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Wyszukujesz frazę ""Donnelly, Deirdre"" wg kryterium: Autor


Tytuł :
22nd Meeting of the Irish Society of Human Genetics
OP01. The Genetic Landscape of Scotland and the Isles
OP02. Interrogating and correcting fine‐scale genetic structure in large (>36,000 samples) GWAS datasets using scalable haplotype sharing methods
OP03. Investigating the genetics of cognitive resilience in healthy ageing using the UK Biobank (n = 333,737)
OP04. Genome-wide DNA methylation analysis for type 1 diabetes
OP05. Development of OPA1 Gene Therapy for Dominant Optic Atrophy
OP06. Who needs rare disease services in Ireland? Constructing a list of high-prevalence rare diseases for Ireland to inform service needs.
OP07. Birth incidence and survival in an 11 year cohort of liveborn babies with a fatal foetal abnormality in the Republic of Ireland
OP08. The Molecular Basis of Acute Porphyria and familial Porphyria Cutanea Tarda in the Republic of Ireland – an update
OP09. European Reference Networks: potential for rare disease research and patient care in Ireland
OP10. Mitochondrial Disease Mimics
P01. Early retinal remodelling in a mouse model of juvenile retinal degeneration.
P02. Detection of putatively pathogenic rare, inherited CNVs from family whole genome sequencing data
P03. Improving the State of Polygenic Prediction: Are Neural Networks Applicable to Genetic Data
P04. The role of common genetic variation in presumed monogenic forms of epilepsy
P05. Investigating the role of microRNAs in the hypoxic response in prostate cancer
P06. The ancient population genetics of Portugal
P07. The Epilepsiome Project: revising the Human Phenotype Ontology for epilepsy and seizures
P08. Modulation of a prodegenerative pathway as a potential therapy for retinal degeneration.
P09. Identifying the Genetic Candidates of Previously Unresolved Inherited Retinopathies in Ireland.
P10. Genes regulated by BCL11B during T-cell development are enriched for de novo mutations found in schizophrenia patients.
P11. The biochemical characterisation of a novel missense variant in Fumarase Hydratase identified in an Irish patient with breast cancer
P12. A randomized controlled trial of folic acid intervention in pregnancy highlights a putative methylation-regulated control element at ZFP57
P13. AAV-ophNdi1: a potential therapy for Leber Hereditary Optic Neuropathy (LHON).
P14. Investigating DHFR2’s growing pool of RNA isoforms
P15. CRISPR/Cas knock-out cell lines to give new insight on DHFR2 function and its interplay with DHFR
P16. Retinoic Acid Receptor Specificity in Glioma Growth Suppression
P17. Detecting pathogenic repeat expansions from genome sequence data
P18. Genetic risk factors in mitochondrial DNA associated with diabetic kidney disease – GWAS discovery and meta-analysis.
P19. Exploration of a tissue specific promoter for retinal ganglion cells
P20. The Contribution of Second-hits in CNV Carriers to Putative Psychiatric Traits
P21. Opposite expression patterns of Spry3 and p75NTR in cerebellar vermis suggest a male-specific mechanism of autism pathogenesis
P22. A genomic exploration of population structure in the Ladakhi, a high-altitude Himalayan population
P23. Towards estimating the incidence of rare diseases in a paediatric population, born in Ireland in the year 2000
P24. Next generation diagnostics in Irish polycystic kidney disease patients
P25. A Large Deletion on Chromosome X Causes Choroideremia by Whole Gene Deletion of CHM in Irish Patients.
P26. Epilepsy alone cohort and routine genetic testing – is it needed
P27. To screen or not to screen; Three cases of RET duplication.
P28. The Northern Ireland Cohort of Neurofibromatosis type 2 patients & clinical correlation of their Genetic Severity Score
P29. The Collar Bone is connected to the Pancreas: a Cytogenetic Explanation
P30. The Significance of Genetic screening in PKU adult cohort & the introduction of Sapropterin dihydrochloride
P31. POT1: An emerging oncological phenotype
P32. Schwannomatosis – the Northern Ireland Cohort
P33. Dying to see you
P34. Interventions to improve psychosocial well-being in female BRCA-mutation carriers following risk-reducing surgery: A Cochrane Systematic Review.
P35. An Irish male with bilateral Fibular Aplasia Tibial Campomelia and Oligosyndactyly (FATCO) syndrome
P36. Natural history of a fibrous cephalic plaque and sustained eight decade follow-up in an 80 year old with tuberous sclerosis complex type 2
P37. Genotype/phenotype landscape of adult Fabry disease in Republic of Ireland
P38. ‘Long shadow of metabolic entropathies: a Tale of Two Extreme Case’
P39. Genetic Characterisation of two Copy Number Variants (CNVs) in the LDLR Gene causing Familial Hypercholesterolaemia
P40. Characterisation of the pathogenic basis of an early-onset familial mucocutaneous ulcerative condition in Irish families
P41. Hurdles to genetic research in Ireland; GDPR and Health Research Regulation in practice
P42. Diagnostic Yield for genetic testing for Hypertrophic Cardiomyopathy in the Irish Population
P43. A 3-year review of Huntington’s disease referrals to the Department of Clinical Genetics, CHI at Crumlin.
P44. Survival Modelling Incorporating Genetic Profile: application to a TCGA dataset
Autorzy :
Gilbert, Edmund
O’Reilly, Seamus
Merrigan, Michael
McGettingan, Darren
Vitart, Veronique
Joshi, Peter K
Clark, David W
Campbell, Harry
Hayward, Caroline
Ring, Susan M
Golding, Jean
Goodfellow, Stephanie
Navarro, Pau
Kerr, Shona M
Amador, Carmen
Campbell, Archie
Haley, Chris S
Porteous, David J
Cavalleri, Gianpiero L
Wilson, James F
Byrne, RP
van Rheenen, W
Veldink, JH
McLaughlin, RL
Fitzgerald, Joan
Fahey, Laura
Whitton, Laura
Donohoe, Gary
Morris, Derek W
Smyth, LJ
Wooster, C
Kilner, J
Kee, F
Young, I
McGuinness, B
Maxwell, AP
McKay, GJ
McKnight, AJ
Maloney, DM
Chadderton, N
Millington-Ward, S
Farrar, GJ
Lambert, DM
Nguengang-Wakap, S
Olry, A
Rath, A
Murphy, D
Lynch, SA
Treacy, EP
Gunne, E
McGarvey, C
Hamilton, K
Savage, S
Rasheed, E
Rashid, A
Keogh, E
MacNamara, B
Collison, C
Brazil, N
Whatley, S
Crowley, VEF
Murphy, DN
Turner, J
Doyle, Samantha
Abidin, Zaza
Senanayake, Suranga
James, Stephanie
Yap, Mei
Hart, Caroline
Crushell, Ellen
Smyth, Shane
Green, Andrew
Treacy, Eileen
Lynch, Tim
Pastores, Gregory
Laffan, Aoife
O’Byrne, James
Palfi, A
Yesmambetov, A
Ormond, CM
Ryan, NM
Heron, EA
Gill, M
Corvin, AP
Kelly, CM
Doherty, MA
Hengeveld, JC
Campbell, C
Leu, C
Delanty, N
Lal, D
Cavalleri, GL
Angel, CZ
McNally, CJ
McKenna, DJ
Breslin, EM
Cassidy, LM
Martiniano, R
Mattiangeli, V
Silva, AM
Bradley, DG
Kearney, H
Balagura, G
Lewis-Smith, D
Ganesan, S
Gan, J
Galer, PD
Wang, Y
Tan, NCK
Lench, NJ
Steward, CA
Krause, R
Robinson, P
Helbig, I
Finnegan, LK
Kenna, P
Carty, M
Bowie, AG
Whelan, L
Dockery, A
Kenna, PF
Keegan, D
Silvestri, G
Khan, M
Cornelis, SS
Dhaenens, CM
Humphries, P
Cremers, FPM
Roosing, S
Broin, Pilib Ó
Morris, Derek
McVeigh, Úna M
McVeigh, Terri P
Miller, Nicola
Kerin, Michael J
Flaus, Andrew
Irwin, RE
Thursby, SJ
Ondičová, M
Pentieva, K
McNulty, H
Richmond, C
Caffrey, A
Lees-Murdock, DJ
McLaughlin, M
Cassidy, T
Suderman, M
Relton, CL
Walsh, CP
Carrigan, M
Maloney, D
Hanlon, K
Bookey, N
Drago, P
Parle-McDermott, A
Flynn, PM
Toulouse, A
Bermingham, N
Jansen, M
Hand, CK
Skelly, RD
Cole, J
Berkeley, M
Dinneen, Thomas
O’Cónail, A
Kirov, George
Lopez, Lorna M
Gallagher, Louise
Ning, Z
Williams, JM
Kumari, R
Baranov, PV
Moore, T
Bhandari, Sushil
Hillman, Sara
Dolma, Padma
Mukerji, Mitali
Prasher, Bhavana
Montgomery, Hugh E.
Gunne, EA
Ward, A
Treacy, E
Lambert, D
Benson, KA
Murray, S
Senum, SR
Kennedy, C
Yachnin, K
Gangadharan, N
Harris, PC
Conlon, P
Zhu, J
Wynne, N
McKenna, C
Humphreys, M
McNerlan, S
Dabir, T
Rea, G
Morrison, PJ
Donnelly, DE
Jeffers, L
Sasaki, E
Kelly, H
Hayes, B
Ryan, K
Carolan, E
Betts, D
Green, A
Sheerin, A
Grabowsky, L
James, S
Senanayake, S
Abidin, Z
O’Byrne, J
Pastores, G
McConnell, V
Bradley, L
Reid, J
Fitzsimons, D
Dempster, M
Pentony, Michaela
Bradley, Lisa
Connor, Pamela O’
Kirk, Claire W
Donnelly, Deirdre E
Hardy, Rachel
Shepherd, Charles W
Morrison, Patrick J
Doyle, S
McVeigh, T
O’Byrne, JJ
Senanayake, SL
Sadok, S
Pastores, GM
Forde, R
Rakovac, A
Abdelfadil, S
Mac Namara, B
O’Connor, P
Heggarty, S
Hart, P
Morgan, NE
Dorris, E
Cummins, E
Adeeb, F
Taylor, C
Savic, S
Killeen, O
Fraser, A
Wilson, AG
Murphy, Jane
Kirk, Claire
Prendiville, Terence
Ward, Deirdre
Galvin, Joseph
Lynch, Sally Ann
Carroll, C
Kirk, C
Murphy, J
Duff, M
Mooney, E
Clark, T
King, C
Fallah, L
Hinde, J
Pokaż więcej
Temat :
Abstracts
Oral Presentations
Poster Presentations
Źródło :
The Ulster Medical Journal
Tytuł :
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Autorzy :
O’Donnell-Luria, Anne
Pais, Lynn
Faundes, Víctor
Wood, Jordan
Sveden, Abigail
Luria, Victor
Abou Jamra, Rami
Accogli, Andrea
Amburgey, Kimberly
Anderlid, Britt Marie
Azzarello-Burri, Silvia
Basinger, Alice
Bianchini, Claudia
Bird, Lynne
Buchert, Rebecca
Carré, Wilfrid
Ceulemans, Sophia
Charles, Perrine
Culliton, Lisa
Currò, Aurora
Demurger, Florence
Dowling, James
Duban-Bedu, Bénédicte
Dubourg, Christèle
Eiset, Saga Elise
Escobar, Luis
Ferrarini, Alessandra
Haack, Tobias
Hashim, Mona
Heide, Solveig
Helbig, Katherine
Helbig, Ingo
Heredia, Raul
Héron, Delphine
Isidor, Bertrand
Jonasson, Amy
Joset, Pascal
Keren, Boris
Kok, Fernando
Kroes, Hester
Lavillaureix, Alinoë
Lu, Xin
Maas, Saskia
Maegawa, Gustavo H.B.
Marcelis, Carlo L.M.
Mark, Paul
Masruha, Marcelo
McLaughlin, Heather
McWalter, Kirsty
Melchinger, Esther
Mercimek-Andrews, Saadet
Nava, Caroline
Pendziwiat, Manuela
Person, Richard
Ramelli, Gian Paolo
Ramos, Luiza L.P.
Rauch, Anita
Reavey, Caitlin
Renieri, Alessandra
Rieß, Angelika
Sanchez-Valle, Amarilis
Sattar, Shifteh
Saunders, Carol
Schwarz, Niklas
Smol, Thomas
Srour, Myriam
Steindl, Katharina
Syrbe, Steffen
Taylor, Jenny
Telegrafi, Aida
Thiffault, Isabelle
Trauner, Doris
van der Linden, Helio
van Koningsbruggen, Silvana
Villard, Laurent
Vogel, Ida
Weber, Yvonne
Wentzensen, Ingrid
Widjaja, Elysa
Zak, Jaroslav
Baxter, Samantha
Rodan, Lance
McRae, Jeremy
Clayton, Stephen
Fitzgerald, Tomas
Kaplanis, Joanna
Prigmore, Elena
Rajan, Diana
Sifrim, Alejandro
Aitken, Stuart
Akawi, Nadia
Alvi, Mohsan
Ambridge, Kirsty
Barrett, Daniel
Bayzetinova, Tanya
Jones, Philip
Jones, Wendy
King, Daniel
Krishnappa, Netravathi
Mason, Laura
Singh, Tarjinder
Tivey, Adrian
Ahmed, Munaza
Anjum, Uruj
Archer, Hayley
Armstrong, Ruth
Awada, Jana
Balasubramanian, Meena
Banka, Siddharth
Baralle, Diana
Barnicoat, Angela
Batstone, Paul
Baty, David
Bennett, Chris
Berg, Jonathan
Bernhard, Birgitta
Bevan, A. Paul
Bitner-Glindzicz, Maria
Blair, Edward
Blyth, Moira
Bohanna, David
Bourdon, Louise
Bourn, David
Bradley, Lisa
Brady, Angela
Brent, Simon
Brewer, Carole
Brunstrom, Kate
Bunyan, David
Burn, John
Canham, Natalie
Castle, Bruce
Chandler, Kate
Chatzimichali, Elena
Cilliers, Deirdre
Clarke, Angus
Clasper, Susan
Clayton-Smith, Jill
Clowes, Virginia
Coates, Andrea
Cole, Trevor
Colgiu, Irina
Collins, Amanda
Collinson, Morag
Connell, Fiona
Cooper, Nicola
Cox, Helen
Cresswell, Lara
Cross, Gareth
Crow, Yanick
D’Alessandro, Mariella
Dabir, Tabib
Davidson, Rosemarie
Davies, Sally
de Vries, Dylan
Dean, John
Deshpande, Charu
Devlin, Gemma
Dixit, Abhijit
Dobbie, Angus
Donaldson, Alan
Donnai, Dian
Donnelly, Deirdre
Donnelly, Carina
Douglas, Angela
Douzgou, Sofia
Duncan, Alexis
Eason, Jacqueline
Ellard, Sian
Ellis, Ian
Elmslie, Frances
Evans, Karenza
Everest, Sarah
Fendick, Tina
Fisher, Richard
Flinter, Frances
Foulds, Nicola
Fry, Andrew
Fryer, Alan
Gardiner, Carol
Gaunt, Lorraine
Ghali, Neeti
Gibbons, Richard
Gill, Harinder
Goodship, Judith
Goudie, David
Gray, Emma
Green, Andrew
Greene, Philip
Greenhalgh, Lynn
Gribble, Susan
Harrison, Rachel
Harrison, Lucy
Harrison, Victoria
Hawkins, Rose
He, Liu
Hellens, Stephen
Henderson, Alex
Hewitt, Sarah
Hildyard, Lucy
Hobson, Emma
Holden, Simon
Holder, Muriel
Holder, Susan
Hollingsworth, Georgina
Homfray, Tessa
Humphreys, Mervyn
Hurst, Jane
Hutton, Ben
Ingram, Stuart
Irving, Melita
Islam, Lily
Jackson, Andrew
Jarvis, Joanna
Jenkins, Lucy
Johnson, Diana
Jones, Elizabeth
Josifova, Dragana
Joss, Shelagh
Kaemba, Beckie
Kazembe, Sandra
Kelsell, Rosemary
Kerr, Bronwyn
Kingston, Helen
Kini, Usha
Kinning, Esther
Kirby, Gail
Kirk, Claire
Kivuva, Emma
Kraus, Alison
Kumar, Dhavendra
Kumar, V.
Lachlan, Katherine
Lam, Wayne
Lampe, Anne
Langman, Caroline
Lees, Melissa
Lim, Derek
Longman, Cheryl
Lowther, Gordon
Lynch, Sally
Magee, Alex
Maher, Eddy
Male, Alison
Mansour, Sahar
Marks, Karen
Martin, Katherine
Maye, Una
McCann, Emma
McConnell, Vivienne
McEntagart, Meriel
McGowan, Ruth
McKay, Kirsten
McKee, Shane
McMullan, Dominic
McNerlan, Susan
McWilliam, Catherine
Mehta, Sarju
Metcalfe, Kay
Middleton, Anna
Miedzybrodzka, Zosia
Miles, Emma
Mohammed, Shehla
Montgomery, Tara
Moore, David
Morgan, Sian
Morton, Jenny
Mugalaasi, Hood
Murday, Victoria
Murphy, Helen
Naik, Swati
Nemeth, Andrea
Nevitt, Louise
Newbury-Ecob, Ruth
Norman, Andrew
O’Shea, Rosie
Ogilvie, Caroline
Ong, Kai-Ren
Park, Soo-Mi
Patel, Chirag
Paterson, Joan
Payne, Stewart
Perrett, Daniel
Phipps, Julie
Pilz, Daniela
Pollard, Martin
Pottinger, Caroline
Poulton, Joanna
Pratt, Norman
Prescott, Katrina
Price, Sue
Pridham, Abigail
Procter, Annie
Purnell, Hellen
Quarrell, Oliver
Ragge, Nicola
Rahbari, Raheleh
Randall, Josh
Rankin, Julia
Raymond, Lucy
Rice, Debbie
Robert, Leema
Roberts, Eileen
Roberts, Jonathan
Roberts, Paul
Roberts, Gillian
Ross, Alison
Rosser, Elisabeth
Saggar, Anand
Samant, Shalaka
Sampson, Julian
Sandford, Richard
Sarkar, Ajoy
Schweiger, Susann
Scott, Richard
Scurr, Ingrid
Selby, Ann
Seller, Anneke
Sequeira, Cheryl
Shannon, Nora
Sharif, Saba
Shaw-Smith, Charles
Shearing, Emma
Shears, Debbie
Sheridan, Eamonn
Simonic, Ingrid
Singzon, Roldan
Skitt, Zara
Smith, Audrey
Smith, Kath
Smithson, Sarah
Sneddon, Linda
Splitt, Miranda
Squires, Miranda
Stewart, Fiona
Stewart, Helen
Straub, Volker
Suri, Mohnish
Sutton, Vivienne
Swaminathan, Ganesh Jawahar
Sweeney, Elizabeth
Tatton-Brown, Kate
Taylor, Cat
Taylor, Rohan
Tein, Mark
Temple, I. Karen
Thomson, Jenny
Tischkowitz, Marc
Tomkins, Susan
Torokwa, Audrey
Treacy, Becky
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Vandersteen, Anthony
Varghese, Vinod
Vasudevan, Pradeep
Vijayarangakannan, Parthiban
Vogt, Julie
Wakeling, Emma
Wallwark, Sarah
Waters, Jonathon
Weber, Astrid
Wellesley, Diana
Whiteford, Margo
Widaa, Sara
Wilcox, Sarah
Wilkinson, Emily
Williams, Denise
Williams, Nicola
Wilson, Louise
Woods, Geoff
Wragg, Christopher
Wright, Michael
Yates, Laura
Yau, Michael
Nellåker, Chris
Parker, Michael
Firth, Helen
Wright, Caroline
Fitzpatrick, David
Barrett, Jeffrey
Hurles, Matthew
Pokaż więcej
Temat :
global developmental delay
epileptic encephalopathy
epilepsy
autism
KMT2E
H3K4 methylation
neurodevelopmental disorder
intellectual disability
[SDV]Life Sciences [q-bio]
[SDV.GEN]Life Sciences [q-bio]/Genetics
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Źródło :
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (6), pp.1210-1222. ⟨10.1016/j.ajhg.2019.03.021⟩
Tytuł :
Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia
Autorzy :
Gorman, Kathleen M.
Meyer, Esther
Grozeva, Detelina
Spinelli, Egidio
McTague, Amy
Sanchis-Juan, Alba
Carss, Keren J.
Bryant, Emily
Reich, Adi
Schneider, Amy L.
Pressler, Ronit M.
Simpson, Michael A.
Debelle, Geoff D.
Wassmer, Evangeline
Morton, Jenny
Sieciechowicz, Diana
Jan-Kamsteeg, Eric
Paciorkowski, Alex R.
King, Mary D.
Cross, J. Helen
Poduri, Annapurna
Mefford, Heather C.
Scheffer, Ingrid E.
Haack, Tobias B.
McCullagh, Gary
Millichap, John J.
Carvill, Gemma L.
Clayton-Smith, Jill
Maher, Eamonn R.
Raymond, F. Lucy
Kurian, Manju A.
McRae, Jeremy F.
Clayton, Stephen
Fitzgerald, Tomas W.
Kaplanis, Joanna
Prigmore, Elena
Rajan, Diana
Sifrim, Alejandro
Aitken, Stuart
Akawi, Nadia
Alvi, Mohsan
Ambridge, Kirsty
Barrett, Daniel M.
Bayzetinova, Tanya
Jones, Philip
Jones, Wendy D.
King, Daniel
Krishnappa, Netravathi
Mason, Laura E.
Singh, Tarjinder
Tivey, Adrian R.
Ahmed, Munaza
Anjum, Uruj
Archer, Hayley
Armstrong, Ruth
Awada, Jana
Balasubramanian, Meena
Banka, Siddharth
Baralle, Diana
Barnicoat, Angela
Batstone, Paul
Baty, David
Bennett, Chris
Berg, Jonathan
Bernhard, Birgitta
Bevan, A. Paul
Bitner-Glindzicz, Maria
Blair, Edward
Blyth, Moira
Bohanna, David
Bourdon, Louise
Bourn, David
Bradley, Lisa
Brady, Angela
Brent, Simon
Brewer, Carole
Brunstrom, Kate
Bunyan, David J.
Burn, John
Canham, Natalie
Castle, Bruce
Chandler, Kate
Chatzimichali, Elena
Cilliers, Deirdre
Clarke, Angus
Clasper, Susan
Clowes, Virginia
Coates, Andrea
Cole, Trevor
Colgiu, Irina
Collins, Amanda
Collinson, Morag N.
Connell, Fiona
Cooper, Nicola
Cox, Helen
Cresswell, Lara
Cross, Gareth
Crow, Yanick
D?Alessandro, Mariella
Dabir, Tabib
Davidson, Rosemarie
Davies, Sally
de Vries, Dylan
Dean, John
Deshpande, Charu
Devlin, Gemma
Dixit, Abhijit
Dobbie, Angus
Donaldson, Alan
Donnai, Dian
Donnelly, Deirdre
Donnelly, Carina
Douglas, Angela
Douzgou, Sofia
Duncan, Alexis
Eason, Jacqueline
Ellard, Sian
Ellis, Ian
Elmslie, Frances
Evans, Karenza
Everest, Sarah
Fendick, Tina
Fisher, Richard
Flinter, Frances
Foulds, Nicola
Fry, Andrew
Fryer, Alan
Gardiner, Carol
Gaunt, Lorraine
Ghali, Neeti
Gibbons, Richard
Gill, Harinder
Goodship, Judith
Goudie, David
Gray, Emma
Green, Andrew
Greene, Philip
Greenhalgh, Lynn
Gribble, Susan
Harrison, Rachel
Harrison, Lucy
Harrison, Victoria
Hawkins, Rose
He, Liu
Hellens, Stephen
Henderson, Alex
Hewitt, Sarah
Hildyard, Lucy
Hobson, Emma
Holden, Simon
Holder, Muriel
Holder, Susan
Hollingsworth, Georgina
Homfray, Tessa
Humphreys, Mervyn
Hurst, Jane
Hutton, Ben
Ingram, Stuart
Irving, Melita
Islam, Lily
Jackson, Andrew
Jarvis, Joanna
Jenkins, Lucy
Johnson, Diana
Jones, Elizabeth
Josifova, Dragana
Joss, Shelagh
Kaemba, Beckie
Kazembe, Sandra
Kelsell, Rosemary
Kerr, Bronwyn
Kingston, Helen
Kini, Usha
Kinning, Esther
Kirby, Gail
Kirk, Claire
Kivuva, Emma
Kraus, Alison
Kumar, Dhavendra
Kumar, V. K. Ajith
Lachlan, Katherine
Lam, Wayne
Lampe, Anne
Langman, Caroline
Lees, Melissa
Lim, Derek
Longman, Cheryl
Lowther, Gordon
Lynch, Sally A.
Magee, Alex
Maher, Eddy
Male, Alison
Mansour, Sahar
Marks, Karen
Martin, Katherine
Maye, Una
McCann, Emma
McConnell, Vivienne
McEntagart, Meriel
McGowan, Ruth
McKay, Kirsten
McKee, Shane
McMullan, Dominic J.
McNerlan, Susan
McWilliam, Catherine
Mehta, Sarju
Metcalfe, Kay
Middleton, Anna
Miedzybrodzka, Zosia
Miles, Emma
Mohammed, Shehla
Montgomery, Tara
Moore, David
Morgan, Sian
Mugalaasi, Hood
Murday, Victoria
Murphy, Helen
Naik, Swati
Nemeth, Andrea
Nevitt, Louise
Newbury-Ecob, Ruth
Norman, Andrew
O'Shea, Rosie
Ogilvie, Caroline
Ong, Kai-Ren
Park, Soo-Mi
Parker, Michael J.
Patel, Chirag
Paterson, Joan
Payne, Stewart
Perrett, Daniel
Phipps, Julie
Pilz, Daniela T.
Pollard, Martin
Pottinger, Caroline
Poulton, Joanna
Pratt, Norman
Prescott, Katrina
Price, Sue
Pridham, Abigail
Procter, Annie
Purnell, Hellen
Quarrell, Oliver
Ragge, Nicola
Rahbari, Raheleh
Randall, Josh
Rankin, Julia
Raymond, Lucy
Rice, Debbie
Robert, Leema
Roberts, Eileen
Roberts, Jonathan
Roberts, Paul
Roberts, Gillian
Ross, Alison
Rosser, Elisabeth
Saggar, Anand
Samant, Shalaka
Sampson, Julian
Sandford, Richard
Sarkar, Ajoy
Schweiger, Susann
Scott, Richard
Scurr, Ingrid
Selby, Ann
Seller, Anneke
Sequeira, Cheryl
Shannon, Nora
Sharif, Saba
Shaw-Smith, Charles
Shearing, Emma
Shears, Debbie
Sheridan, Eamonn
Simonic, Ingrid
Singzon, Roldan
Skitt, Zara
Smith, Audrey
Smith, Kath
Smithson, Sarah
Sneddon, Linda
Splitt, Miranda
Squires, Miranda
Stewart, Fiona
Stewart, Helen
Straub, Volker
Suri, Mohnish
Sutton, Vivienne
Swaminathan, Ganesh Jawahar
Sweeney, Elizabeth
Tatton-Brown, Kate
Taylor, Cat
Taylor, Rohan
Tein, Mark
Temple, I. Karen
Thomson, Jenny
Tischkowitz, Marc
Tomkins, Susan
Torokwa, Audrey
Treacy, Becky
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Vandersteen, Anthony
Varghese, Vinod
Vasudevan, Pradeep
Vijayarangakannan, Parthiban
Vogt, Julie
Wakeling, Emma
Wallwark, Sarah
Waters, Jonathon
Weber, Astrid
Wellesley, Diana
Whiteford, Margo
Widaa, Sara
Wilcox, Sarah
Wilkinson, Emily
Williams, Denise
Williams, Nicola
Wilson, Louise
Woods, Geoff
Wragg, Christopher
Wright, Michael
Yates, Laura
Yau, Michael
Nellåker, Chris
Parker, Michael
Firth, Helen V.
Wright, Caroline F.
FitzPatrick, David R.
Barrett, Jeffrey C.
Hurles, Matthew E.
Al Turki, Saeed
Anderson, Carl
Anney, Richard
Antony, Dinu
Artigas, Maria Soler
Ayub, Muhammad
Balasubramaniam, Senduran
Barroso, Inês
Beales, Phil
Bentham, Jamie
Bhattacharya, Shoumo
Birney, Ewan
Blackwood, Douglas
Bobrow, Martin
Bochukova, Elena
Bolton, Patrick
Bounds, Rebecca
Boustred, Chris
Breen, Gerome
Calissano, Mattia
Carss, Keren
Chatterjee, Krishna
Chen, Lu
Ciampi, Antonio
Cirak, Sebhattin
Clapham, Peter
Clement, Gail
Coates, Guy
Collier, David
Cosgrove, Catherine
Cox, Tony
Craddock, Nick
Crooks, Lucy
Curran, Sarah
Curtis, David
Daly, Allan
Day-Williams, Aaron
Day, Ian N.M.
Down, Thomas
Du, Yuanping
Dunham, Ian
Edkins, Sarah
Ellis, Peter
Evans, David
Faroogi, Sadaf
Fatemifar, Ghazaleh
Fitzpatrick, David R.
Flicek, Paul
Flyod, James
Foley, A. Reghan
Franklin, Christopher S.
Futema, Marta
Gallagher, Louise
Geihs, Matthias
Geschwind, Daniel
Griffin, Heather
Guo, Xueqin
Guo, Xiaosen
Gurling, Hugh
Hart, Deborah
Hendricks, Audrey
Holmans, Peter
Howie, Bryan
Huang, Liren
Hubbard, Tim
Humphries, Steve E.
Hysi, Pirro
Jackson, David K.
Jamshidi, Yalda
Jing, Tian
Joyce, Chris
Kaye, Jane
Keane, Thomas
Keogh, Julia
Kemp, John
Kennedy, Karen
Kolb-Kokocinski, Anja
Lachance, Genevieve
Langford, Cordelia
Lawson, Daniel
Lee, Irene
Lek, Monkol
Liang, Jieqin
Lin, Hong
Li, Rui
Li, Yingrui
Liu, Ryan
Lönnqvist, Jouko
Lopes, Margarida
Iotchkova, Valentina
MacArthur, Daniel
Marchini, Jonathan
Maslen, John
Massimo, Mangino
Mathieson, Iain
Marenne, Gaëlle
McGuffin, Peter
McIntosh, Andrew
McKechanie, Andrew G.
McQuillin, Andrew
Metrustry, Sarah
Mitchison, Hannah
Moayyeri, Alireza
Morris, James
Muntoni, Francesco
Northstone, Kate
O'Donovan, Michael
Onoufriadis, Alexandros
O'Rahilly, Stephen
Oualkacha, Karim
Owen, Michael J.
Palotie, Aarno
Panoutsopoulou, Kalliope
Parker, Victoria
Parr, Jeremy R.
Paternoster, Lavinia
Paunio, Tiina
Payne, Felicity
Pietilainen, Olli
Plagnol, Vincent
Quaye, Lydia
Quail, Michael A.
Rehnström, Karola
Ring, Susan
Ritchie, Graham R.S.
Roberts, Nicola
Savage, David B.
Scambler, Peter
Schiffels, Stephen
Schmidts, Miriam
Schoenmakers, Nadia
Semple, Robert K.
Serra, Eva
Sharp, Sally I.
Shin, So-Youn
Skuse, David
Small, Kerrin
Southam, Lorraine
Spasic-Boskovic, Olivera
St Clair, David
Stalker, Jim
Stevens, Elizabeth
St Pourcian, Beate
Sun, Jianping
Suvisaari, Jaana
Tachmazidou, Ionna
Tobin, Martin D.
Valdes, Ana
Van Kogelenberg, Margriet
Visscher, Peter M.
Wain, Louise V.
Walters, James T.R.
Wang, Guangbiao
Wang, Jun
Wang, Yu
Ward, Kirsten
Wheeler, Elanor
Whyte, Tamieka
Williams, Hywel
Williamson, Kathleen A.
Wilson, Crispian
Wong, Kim
Xu, ChangJiang
Yang, Jian
Zhang, Fend
Zhang, Pingbo
Aitman, Timothy
Alachkar, Hana
Ali, Sonia
Allen, Louise
Allsup, David
Ambegaonkar, Gautum
Anderson, Julie
Antrobus, Richard
Arno, Gavin
Arumugakani, Gururaj
Ashford, Sofie
Astle, William
Attwood, Antony
Austin, Steve
Bacchelli, Chiara
Bakchoul, Tamam
Bariana, Tadbir K.
Baxendale, Helen
Bennett, David
Bethune, Claire
Bibi, Shahnaz
Bleda, Marta
Boggard, Harm
Bolton-Maggs, Paula
Booth, Claire
Bradley, John R.
Brady, Angie
Brown, Matthew
Browning, Michael
Bryson, Christine
Burns, Siobhan
Calleja, Paul
Carmichael, Jenny
Caulfield, Mark
Chalmers, Elizabeth
Chandra, Anita
Chinnery, Patrick
Chitre, Manali
Church, Colin
Clement, Emma
Clements-Brod, Naomi
Coghlan, Gerry
Collins, Peter
Cooper, Nichola
Creaser-Myers, Amanda
DaCosta, Rosa
Daugherty, Louise
Davies, Sophie
Davis, John
De Vries, Minka
Deegan, Patrick
Deevi, Sri V.V.
Devlin, Lisa
Dewhurst, Eleanor
Doffinger, Rainer
Dormand, Natalie
Drewe, Elizabeth
Edgar, David
Egner, William
Erber, Wendy N.
Erwood, Marie
Everington, Tamara
Favier, Remi
Firth, Helen
Fletcher, Debra
Fox, James C.
Frary, Amy
Freson, Kathleen
Furie, Bruce
Furnell, Abigail
Gale, Daniel
Gardham, Alice
Gattens, Michael
Ghataorhe, Pavandeep K.
Ghurye, Rohit
Gibbs, Simon
Gilmour, Kimberley
Gissen, Paul
Goddard, Sarah
Gomez, Keith
Gordins, Pavel
Gräf, Stefan
Greene, Daniel
Greenhalgh, Alan
Greinacher, Andreas
Grigoriadou, Sofia
Hackett, Scott
Hadinnapola, Charaka
Hague, Rosie
Haimel, Matthias
Halmagyi, Csaba
Hammerton, Tracey
Hart, Daniel
Hayman, Grant
Heemskerk, Johan W.M.
Henderson, Robert
Hensiek, Anke
Henskens, Yvonne
Herwadkar, Archana
Hu, Fengyuan
Huissoon, Aarnoud
Humbert, Marc
James, Roger
Jolles, Stephen
Kazmi, Rashid
Keeling, David
Kelleher, Peter
Kelly, Anne M.
Kennedy, Fiona
Kiely, David
Kingston, Nathalie
Koziell, Ania
Krishnakumar, Deepa
Kuijpers, Taco W.
Kumararatne, Dinakantha
Kurian, Manju
Laffan, Michael A.
Lambert, Michele P.
Allen, Hana Lango
Lawrie, Allan
Lear, Sara
Lentaigne, Claire
Liesner, Ri
Linger, Rachel
Longhurst, Hilary
Lorenzo, Lorena
Machado, Rajiv
Mackenzie, Rob
MacLaren, Robert
Maher, Eamonn
Maimaris, Jesmeen
Mangles, Sarah
Manson, Ania
Mapeta, Rutendo
Markus, Hugh S.
Martin, Jennifer
Masati, Larahmie
Mathias, Mary
Matser, Vera
Maw, Anna
McDermott, Elizabeth
McJannet, Coleen
Meacham, Stuart
Meehan, Sharon
Megy, Karyn
Michaelides, Michel
Millar, Carolyn M.
Moledina, Shahin
Moore, Anthony
Morrell, Nicholas
Mumford, Andrew
Murng, Sai
Murphy, Elaine
Nejentsev, Sergey
Noorani, Sadia
Nurden, Paquita
Oksenhendler, Eric
Ouwehand, Willem H.
Papadia, Sofia
Parker, Alasdair
Pasi, John
Patch, Chris
Payne, Jeanette
Peacock, Andrew
Peerlinck, Kathelijne
Penkett, Christopher J.
Pepke-Zaba, Joanna
Perry, David J.
Pollock, Val
Polwarth, Gary
Ponsford, Mark
Qasim, Waseem
Quinti, Isabella
Rankin, Stuart
Rehnstrom, Karola
Reid, Evan
Rhodes, Christopher J.
Richards, Michael
Richardson, Sylvia
Richter, Alex
Roberts, Irene
Rondina, Matthew
Roughley, Catherine
Rue-Albrecht, Kevin
Samarghitean, Crina
Santra, Saikat
Sargur, Ravishankar
Savic, Sinisa
Schulman, Sol
Schulze, Harald
Scully, Marie
Seneviratne, Suranjith
Sewell, Carrock
Shamardina, Olga
Shipley, Debbie
Simeoni, Ilenia
Sivapalaratnam, Suthesh
Smith, Kenneth
Sohal, Aman
Southgate, Laura
Staines, Simon
Staples, Emily
Stauss, Hans
Stein, Penelope
Stephens, Jonathan
Stirrups, Kathleen
Stock, Sophie
Suntharalingam, Jay
Tait, R. Campbell
Talks, Kate
Tan, Yvonne
Thachil, Jecko
Thaventhiran, James
Thomas, Ellen
Thomas, Moira
Thompson, Dorothy
Thrasher, Adrian
Titterton, Catherine
Toh, Cheng-Hock
Toshner, Mark
Treacy, Carmen
Trembath, Richard
Tuna, Salih
Turek, Wojciech
Turro, Ernest
Van Geet, Chris
Veltman, Marijke
von Ziegenweldt, Julie
Vonk Noordegraaf, Anton
Wanjiku, Ivy
Warner, Timothy Q.
Watkins, Hugh
Webster, Andrew
Welch, Steve
Westbury, Sarah
Wharton, John
Whitehorn, Deborah
Wilkins, Martin
Willcocks, Lisa
Williamson, Catherine
Woods, Geoffrey
Wort, John
Yeatman, Nigel
Yong, Patrick
Young, Tim
Yu, Ping
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Opis pliku :
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Tytuł :
CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018)
Autorzy :
Blok, Lot Snijders
Rousseau, Justine
Twist, Joanna
Ehresmann, Sophie
Takaku, Motoki
Venselaar, Hanka
Rodan, Lance H
Nowak, Catherine B
Douglas, Jessica
Swoboda, Kathryn J
Steeves, Marcie A
Sahai, Inderneel
Stumpel, Connie TRM
Stegmann, Alexander PA
Wheeler, Patricia
Willing, Marcia
Fiala, Elise
Kochhar, Aaina
Gibson, William T
Cohen, Ana SA
Agbahovbe, Ruky
Innes, A Micheil
Au, PY Billie
Rankin, Julia
Anderson, Ilse J
Skinner, Steven A
Louie, Raymond J
Warren, Hannah E
Afenjar, Alexandra
Keren, Boris
Nava, Caroline
Buratti, Julien
Isapof, Arnaud
Rodriguez, Diana
Lewandowski, Raymond
Propst, Jennifer
van Essen, Ton
Choi, Murim
Lee, Sangmoon
Chae, Jong H
Price, Susan
Schnur, Rhonda E
Douglas, Ganka
Wentzensen, Ingrid M
Zweier, Christiane
Reis, Andre
Bialer, Martin G
Moore, Christine
Koopmans, Marije
Brilstra, Eva H
Monroe, Glen R
van Gassen, Koen LI
van Binsbergen, Ellen
Newbury-Ecob, Ruth
Bownass, Lucy
Bader, Ingrid
Mayr, Johannes A
Wortmann, Saskia B
Jakielski, Kathy J
Strand, Edythe A
Kloth, Katja
Bierhals, Tatjana
Roberts, John D
Petrovich, Robert M
Machida, Shinichi
Kurumizaka, Hitoshi
Lelieveld, Stefan
Pfundt, Rolph
Jansen, Sandra
Deriziotis, Pelagia
Faivre, Laurence
Thevenon, Julien
Assoum, Mirna
Shriberg, Lawrence
Kleefstra, Tjitske
Brunner, Han G
Wade, Paul A
Fisher, Simon E
Campeau, Philippe M
McRae, Jeremy F
Clayton, Stephen
Fitzgerald, Tomas W
Kaplanis, Joanna
Prigmore, Elena
Rajan, Diana
Sifrim, Alejandro
Aitken, Stuart
Akawi, Nadia
Alvi, Mohsan
Ambridge, Kirsty
Barrett, Daniel M
Bayzetinova, Tanya
Jones, Philip
Jones, Wendy D
King, Daniel
Krishnappa, Netravathi
Mason, Laura E
Singh, Tarjinder
Tivey, Adrian R
Ahmed, Munaza
Anjum, Uruj
Archer, Hayley
Armstrong, Ruth
Awada, Jana
Balasubramanian, Meena
Banka, Siddharth
Baralle, Diana
Barnicoat, Angela
Batstone, Paul
Baty, David
Bennett, Chris
Berg, Jonathan
Bernhard, Birgitta
Bevan, A Paul
Bitner-Glindzicz, Maria
Blair, Edward
Blyth, Moira
Bohanna, David
Bourdon, Louise
Bourn, David
Bradley, Lisa
Brady, Angela
Brent, Simon
Brewer, Carole
Brunstrom, Kate
Bunyan, David J
Burn, John
Canham, Natalie
Castle, Bruce
Chandler, Kate
Chatzimichali, Elena
Cilliers, Deirdre
Clarke, Angus
Clasper, Susan
Clayton-Smith, Jill
Clowes, Virginia
Coates, Andrea
Cole, Trevor
Colgiu, Irina
Collins, Amanda
Collinson, Morag N
Connell, Fiona
Cooper, Nicola
Cox, Helen
Cresswell, Lara
Cross, Gareth
Crow, Yanick
D'Alessandro, Mariella
Dabir, Tabib
Davidson, Rosemarie
Davies, Sally
de Vries, Dylan
Dean, John
Deshpande, Charu
Devlin, Gemma
Dixit, Abhijit
Dobbie, Angus
Donaldson, Alan
Donnai, Dian
Donnelly, Deirdre
Donnelly, Carina
Douglas, Angela
Douzgou, Sofia
Duncan, Alexis
Eason, Jacqueline
Ellard, Sian
Ellis, Ian
Elmslie, Frances
Evans, Karenza
Everest, Sarah
Fendick, Tina
Fisher, Richard
Flinter, Frances
Foulds, Nicola
Fry, Andrew
Fryer, Alan
Gardiner, Carol
Gaunt, Lorraine
Ghali, Neeti
Gibbons, Richard
Gill, Harinder
Goodship, Judith
Goudie, David
Gray, Emma
Green, Andrew
Greene, Philip
Greenhalgh, Lynn
Gribble, Susan
Harrison, Rachel
Harrison, Lucy
Harrison, Victoria
Hawkins, Rose
He, Liu
Hellens, Stephen
Henderson, Alex
Hewitt, Sarah
Hildyard, Lucy
Hobson, Emma
Holden, Simon
Holder, Muriel
Holder, Susan
Hollingsworth, Georgina
Homfray, Tessa
Humphreys, Mervyn
Hurst, Jane
Hutton, Ben
Ingram, Stuart
Irving, Melita
Islam, Lily
Jackson, Andrew
Jarvis, Joanna
Jenkins, Lucy
Johnson, Diana
Jones, Elizabeth
Josifova, Dragana
Joss, Shelagh
Kaemba, Beckie
Kazembe, Sandra
Kelsell, Rosemary
Kerr, Bronwyn
Kingston, Helen
Kini, Usha
Kinning, Esther
Kirby, Gail
Kirk, Claire
Kivuva, Emma
Kraus, Alison
Kumar, Dhavendra
Kumar, VK Ajith
Lachlan, Katherine
Lam, Wayne
Lampe, Anne
Langman, Caroline
Lees, Melissa
Lim, Derek
Longman, Cheryl
Lowther, Gordon
Lynch, Sally A
Magee, Alex
Maher, Eddy
Male, Alison
Mansour, Sahar
Marks, Karen
Martin, Katherine
Maye, Una
McCann, Emma
McConnell, Vivienne
McEntagart, Meriel
McGowan, Ruth
McKay, Kirsten
McKee, Shane
McMullan, Dominic J
McNerlan, Susan
McWilliam, Catherine
Mehta, Sarju
Metcalfe, Kay
Middleton, Anna
Miedzybrodzka, Zosia
Miles, Emma
Mohammed, Shehla
Montgomery, Tara
Moore, David
Morgan, Sian
Morton, Jenny
Mugalaasi, Hood
Murday, Victoria
Murphy, Helen
Naik, Swati
Nemeth, Andrea
Nevitt, Louise
Norman, Andrew
O'Shea, Rosie
Ogilvie, Caroline
Ong, Kai-Ren
Park, Soo-Mi
Parker, Michael J
Patel, Chirag
Paterson, Joan
Payne, Stewart
Perrett, Daniel
Phipps, Julie
Pilz, Daniela T
Pollard, Martin
Pottinger, Caroline
Poulton, Joanna
Pratt, Norman
Prescott, Katrina
Pridham, Abigail
Procter, Annie
Purnell, Hellen
Quarrell, Oliver
Ragge, Nicola
Rahbari, Raheleh
Randall, Josh
Raymond, Lucy
Rice, Debbie
Robert, Leema
Roberts, Eileen
Roberts, Jonathan
Roberts, Paul
Roberts, Gillian
Ross, Alison
Rosser, Elisabeth
Saggar, Anand
Samant, Shalaka
Sampson, Julian
Sandford, Richard
Sarkar, Ajoy
Schweiger, Susann
Scott, Richard
Scurr, Ingrid
Selby, Ann
Seller, Anneke
Sequeira, Cheryl
Shannon, Nora
Sharif, Saba
Shaw-Smith, Charles
Shearing, Emma
Shears, Debbie
Sheridan, Eamonn
Simonic, Ingrid
Singzon, Roldan
Skitt, Zara
Smith, Audrey
Smith, Kath
Smithson, Sarah
Sneddon, Linda
Splitt, Miranda
Squires, Miranda
Stewart, Fiona
Stewart, Helen
Straub, Volker
Suri, Mohnish
Sutton, Vivienne
Swaminathan, Ganesh Jawahar
Sweeney, Elizabeth
Tatton-Brown, Kate
Taylor, Cat
Taylor, Rohan
Tein, Mark
Temple, I Karen
Thomson, Jenny
Tischkowitz, Marc
Tomkins, Susan
Torokwa, Audrey
Treacy, Becky
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Vandersteen, Anthony
Varghese, Vinod
Vasudevan, Pradeep
Vijayarangakannan, Parthiban
Vogt, Julie
Wakeling, Emma
Wallwark, Sarah
Waters, Jonathon
Weber, Astrid
Wellesley, Diana
Whiteford, Margo
Widaa, Sara
Wilcox, Sarah
Wilkinson, Emily
Williams, Denise
Williams, Nicola
Wilson, Louise
Woods, Geoff
Wragg, Christopher
Wright, Michael
Yates, Laura
Yau, Michael
Nellaker, Chris
Parker, Michael
Firth, Helen V
Wright, Caroline F
FitzPatrick, David R
Barrett, Jeffrey C
Hurles, Matthew E
Study, DDD
Pokaż więcej
Opis pliku :
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Tytuł :
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature
Autorzy :
Taylor, Rachel L
Handley, Mark T
Waller, Sarah
Campbell, Christopher
Urquhart, Jill
Meynert, Alison M
Ellingford, Jamie M
Donnelly, Deirdre
Wilcox, Gisela
Lloyd, I Chris
Mundy, Helen
FitzPatrick, David R
Deshpande, Charu
Clayton-Smith, Jill
Black, Graeme C
Pokaż więcej
Temat :
next-generation sequencing
peroxisome biogenesis disorder
genomics
congenital cataract
PEX11B
Article
Źródło :
Investigative ophthalmology & visual science
Taylor, R L, Handley, M T, Waller, S, Campbell, C, Urquhart, J, Meynert, A M, Ellingford, J M, Donnelly, D, Wilcox, G, Lloyd, I C, Mundy, H, FitzPatrick, D R, Deshpande, C, Clayton-Smith, J & Black, G C 2017, ' Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature ', Investigative Ophthalmology & Visual Science, vol. 58, no. 1, pp. 594-603 . https://doi.org/10.1167/iovs.16-21026
Taylor, R L, Handley, M T, Waller, S, Campbell, C, Urquhart, J, Meynert, A M, Ellingford, J M, Donnelly, D, Wilcox, G, Lloyd, I C, Mundy, H, FitzPatrick, D R, Deshpande, C, Clayton-Smith, J & Black, G C 2017, ' Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature ', Investigative ophthalmology & visual science, vol. 58, no. 1, pp. 594-603 . https://doi.org/10.1167/iovs.16-21026
Opis pliku :
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Tytuł :
Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study
Autorzy :
McRae, Jeremy F
Clayton, Stephen
Fitzgerald, Tomas W
Kaplanis, Joanna
Prigmore, Elena
Rajan, Diana
Sifrim, AlejandroW
Aitken, Stuart
Akawi, Nadia
Alvi, Mohsan
Ambridge, Kirsty
Barrett, Daniel M
Bayzetinova, Tanya
Jones, Philip
Jones, Wendy D
King, Daniel
Krishnappa, Netravathi
Mason, Laura E
Singh, Tarjinder
Tivey, Adrian R
Ahmed, Munaza
Anjum, Uruj
Archer, Hayley
Armstrong, Ruth
Awada, Jana
Balasubramanian, Meena
Banka, Siddharth
Baralle, Diana
Barnicoat, Angela
Batstone, Paul
Baty, David
Bennett, Chris
Berg, Jonathan
Bernhard, Birgitta
Bevan, A Paul
Bitner-Glindzicz, Maria
Blair, Edward
Blyth, Moira
Bohanna, David
Bourdon, Louise
Bourn, David
Bradley, Lisa
Brady, Angela
Brent, Simon
Brewer, Carole
Brunstrom, Kate
Bunyan, David J
Burn, John
Canham, Natalie
Castle, Bruce
Chandler, Kate
Chatzimichali, Elena
Cilliers, Deirdre
Clarke, Angus
Clasper, Susan
Clayton-Smith, Jill
Clowes, Virginia
Coates, Andrea
Cole, Trevor
Colgiu, Irina
Collins, Amanda
Collinson, Morag N
Connell, Fiona
Cooper, Nicola
Cox, Helen
Cresswell, Lara
Cross, Gareth
Crow, Yanick
DAlessandro, Mariella
Dabir, Tabib
Davidson, Rosemarie
Davies, Sally
de Vries, Dylan
Dean, John
Deshpande, Charu
Devlin, Gemma
Dixit, Abhijit
Dobbie, Angus
Donaldson, Alan
Donnai, Dian
Donnelly, Deirdre
Donnelly, Carina
Douglas, Angela
Douzgou, Sofia
Duncan, Alexis
Eason, Jacqueline
Ellard, Sian
Ellis, Ian
Elmslie, Frances
Evans, Karenza
Everest, Sarah
Fendick, Tina
Fisher, Richard
Flinter, Frances
Foulds, Nicola
Fry, AndrewW
Fryer, Alan
Gardiner, Carol
Gaunt, Lorraine
Ghali, Neeti
Gibbons, Richard
Gill, Harinder
Goodship, Judith
Goudie, David
Gray, Emma
Green, Andrew
Greene, Philip
Greenhalgh, Lynn
Gribble, Susan
Harrison, Lucy
Harrison, Victoria
Hawkins, Rose
He, Liu
Hellens, Stephen
Henderson, Alex
Hewitt, Sarah
Hildyard, Lucy
Hobson, Emma
Holden, Simon
Holder, Muriel
Holder, Susan
Hollingsworth, Georgina
Homfray, Tessa
Humphreys, Mervyn
Hurst, Jane
Hutton, Ben
Ingram, Stuart
Irving, Melita
Islam, Lily
Jackson, Andrew
Jarvis, Joanna
Jenkins, Lucy
Johnson, Diana
Jones, Elizabeth
Josifova, Dragana
Joss, Shelagh
Kaemba, Beckie
Kazembe, Sandra
Kelsell, Rosemary
Kerr, Bronwyn
Kingston, Helen
Kini, Usha
Kinning, Esther
Kirby, Gail
Kirk, Claire
Kivuva, Emma
Kraus, Alison
Kumar, Dhavendra
Kumar, V.K Ajith
Lachlan, Katherine
Lam, Wayne
Lampe, Anne
Langman, Caroline
Lees, Melissa
Lim, Derek
Longman, Cheryl
Lowther, Gordon
Lynch, Sally A
Magee, Alex
Maher, Eddy
Male, Alison
Mansour, Sahar
Marks, Karen
Martin, Katherine
Maye, Una
McCann, Emma
McConnell, Vivienne
McEntagart, Meriel
McGowan, Ruth
McKay, Kirsten
McKee, Shane
McMullan, Dominic J
McNerlan, Susan
McWilliam, Catherine
Mehta, Sarju
Metcalfe, Kay
Middleton, Anna
Miedzybrodzka, Zosia
Miles, Emma
Mohammed, Shehla
Montgomery, Tara
Moore, David
Morgan, Sian
Morton, Jenny
Mugalaasi, Hood
Murday, Victoria
Murphy, Helen
Naik, Swati
Nemeth, Andrea
Nevitt, Louise
Newbury-Ecob, Ruth
Norman, Andrew
OShea, Rosie
Ogilvie, Caroline
Ong, Kai-Ren
Park, Soo-Mi
Parker, Michael J
Patel, Chirag
Paterson, Joan
Payne, Stewart
Perrett, Daniel
Phipps, Julie
Pilz, Daniela T
Pollard, Martin
Pottinger, Caroline
Poulton, Joanna
Pratt, Norman
Prescott, Katrina
Price, Sue
Pridham, Abigail
Procter, Annie
Purnell, Hellen
Quarrell, Oliver
Ragge, Nicola
Rahbari, Raheleh
Randall, Josh
Rankin, Julia
Raymond, Lucy
Rice, Debbie
Robert, Leema
Roberts, Eileen
Roberts, Jonathan
Roberts, Paul
Roberts, Gillian
Ross, Alison
Rosser, Elisabeth
Saggar, Anand
Samant, Shalaka
Sampson, Julian
Sandford, Richard
Sarkar, Ajoy
Schweiger, Susann
Scott, Richard
Scurr, Ingrid
Selby, Ann
Seller, Anneke
Sequeira, Cheryl
Shannon, Nora
Sharif, Saba
Shaw-Smith, Charles
Shearing, Emma
Shears, Debbie
Sheridan, Eamonn
Simonic, Ingrid
Singzon, Roldan
Skitt, Zara
Smith, Audrey
Smith, Kath
Smithson, Sarah
Sneddon, Linda
Splitt, Miranda
Squires, Miranda
Stewart, Fiona
Stewart, Helen
Straub, Volker
Suri, Mohnish
Sutton, Vivienne
Swaminathan, Ganesh Jawahar
Sweeney, Elizabeth
Tatton-Brown, Kate
Taylor, Cat
Taylor, Rohan
Tein, Mark
Temple, I Karen
Thomson, Jenny
Tischkowitz, Marc
Tomkins, Susan
Torokwa, Audrey
Treacy, Becky
Turner, Claire
Turnpenny, Peter
Tysoe, Carolyn
Vandersteen, Anthony
Varghese, Vinod
Vasudevan, Pradeep
Vijayarangakannan, Parthiban
Vogt, Julie
Wakeling, Emma
Wallwark, Sarah
Waters, Jonathon
Weber, Astrid
Wellesley, Diana
Whiteford, Margo
Widaa, Sara
Wilcox, Sarah
Wilkinson, Emily
Williams, Denise
Williams, Nicola
Wilson, Louise
Woods, Geoff
Wragg, Christopher
Wright, Michael
Yates, Laura
Yau, Michael
Nellaker, Chris
Firth, Helen V
Wright, Caroline F
FitzPatrick, David R
Barrett, Jeffrey C
Hurles, Matthew E
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