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Wyszukujesz frazę ""Faundes, Víctor"" wg kryterium: Autor


Tytuł :
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
Autorzy :
Faundes, VíctorAff1, Aff2
Jennings, Martin D.Aff3, Aff4
Crilly, Siobhan
Legraie, Sarah
Withers, Sarah E.
Cuvertino, Sara
Davies, Sally J.
Douglas, Andrew G. L.Aff7, Aff8
Fry, Andrew E.Aff6, Aff9
Harrison, Victoria
Amiel, JeanneAff10, Aff11, Aff12
Lehalle, Daphné
Newman, William G.Aff1, Aff13
Newkirk, Patricia
Ranells, Judith
Splitt, Miranda
Cross, Laura A.Aff16, Aff17
Saunders, Carol J.Aff18, Aff19, Aff20
Sullivan, Bonnie R.Aff16, Aff17
Granadillo, Jorge L.
Gordon, Christopher T.Aff11, Aff12
Kasher, Paul R.Aff4, Aff5
Pavitt, Graham D.Aff3, Aff4
Banka, SiddharthAff1, Aff13
Pokaż więcej
Źródło :
Nature Communications. 12(1)
Czasopismo naukowe
Tytuł :
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
Autorzy :
O'Donnell-Luria, Anne H
Pais, Lynn S
Faundes, Víctor
et al
Joset, Pascal
Rauch, Anita
Steindl, Katharina
Pokaż więcej
Temat :
Institute of Medical Genetics
570 Life sciences
biology
610 Medicine & health
Źródło :
O'Donnell-Luria, Anne H; Pais, Lynn S; Faundes, Víctor; et al; Joset, Pascal; Rauch, Anita; Steindl, Katharina (2019). Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy. American Journal of Human Genetics, 104(6):1210-1222.
Opis pliku :
application/pdf
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 :
Patients With Fragile X Syndrome Attending a Specialized Centre in Chile: Parent Satisfaction, Costs and Adherence.
Autorzy :
Faundes, Víctor
Salas, Isabel
Correa‐Burrows, Paulina
Soto, Paula
Peña, María Ignacia
Pugin, Ángela
Bravo, Paulina
Santa María, Lorena
Morales, Paulina
Curotto, Bianca
Aliaga, Solange
Alliende, María Angélica
Pokaż więcej
Źródło :
Journal of Policy & Practice in Intellectual Disabilities. Mar2018, Vol. 15 Issue 1, p63-69. 7p.
Czasopismo naukowe
Tytuł :
Histone lysine methylases and demethylases in the landscape of human developmental disorders
Autorzy :
Faundes, Víctor
Newman, William G.
Bernardini, Laura
Canham, Natalie
Clayton-Smith, Jill
Dallapiccola, Bruno
Davies, Sally J.
Demos, Michelle K.
Goldman, Amy
Gill, Harinder
Horton, Rachel
Kerr, Bronwyn
Kumar, Dhavendra
Lehman, Anna
McKee, Shane
Morton, Jenny
Parker, Michael J.
Rankin, Julia
Robertson, Lisa
Temple, I. Karen
Banka, Siddharth
Pokaż więcej
Temat :
Genetics(clinical)
chromatin remodeling
KMT5B
KDM5B
Genetics
KMT2C
KMT2B
histone lysine methyltransferase
histone lysine demethylase
Report
ASH1L
Developmental disorders
Źródło :
Faundes, V, Newman, W G, Bernardini, L, Canham, N, Clayton-Smith, J, Dallapiccola, B, Davies, S J, Demos, M K, Goldman, A, Gill, H, Horton, R, Kerr, B, Kumar, D, Lehman, A, McKee, S, Morton, J, Parker, M J, Rankin, J, Robertson, L, Temple, I K & Banka, S 2018, ' Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders. ', American Journal of Human Genetics, vol. 102, no. 1, pp. 175-187 . https://doi.org/10.1016/j.ajhg.2017.11.013
Opis pliku :
application/pdf; text
Tytuł :
A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population
Autorzy :
Faundes, Víctor
Malone, Geraldine
Newman, William G
Banka, Siddharth
Pokaż więcej
Źródło :
Faundes, V, Malone, G, Newman, W G & Banka, S 2018, ' A comparative analysis of KMT2D missense variants in Kabuki syndrome, cancers and the general population ', Journal of Human Genetics . https://doi.org/10.1038/s10038-018-0536-6
Opis pliku :
application/pdf
Tytuł :
Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities
Autorzy :
Faundes, Víctor
Santa María, Lorena
Morales, Paulina
Curotto, Bianca
Alliende, María Angélica
Pokaż więcej
Temat :
humanities
Congenital Abnormalities
health care economics and organizations
Comparative Genomic Hybridization
Neurodevelopmental Disorders
Źródło :
Revista médica de Chile, Volume: 145, Issue: 7, Pages: 854-861, Published: JUL 2017
Opis pliku :
text/html
Tytuł :
Congenital anomalies of poor prognosis
Autorzy :
Pardo Vargas, Rosa A
Aracena, Mariana
Aravena, Teresa
Cares, Carolina
Cortés, Fanny
Faundes, Víctor
Mellado, Cecilia
Passalacqua, Cristóbal
Sanz, Patricia
Castillo Taucher, Silvia
Pokaż więcej
Temat :
Anomalías congénitas
Aborto
Abortion
Chromosomal aberrations
Alteraciones cromosómicas
Congenital anomalies
Pronóstico
Prognosis
Źródło :
Revista chilena de pediatría, Volume: 87, Issue: 5, Pages: 422-431, Published: OCT 2016
Opis pliku :
text/html
Tytuł :
Consenso de la Rama de Genética de la Sociedad Chilena de Pediatría sobre las anomalías congénitas de mal pronóstico vital (ACMPV): Genetics Consensus Committee
Autorzy :
Pardo Vargas, Rosa A.
Aracena, Mariana
Aravena, Teresa
Cares, Carolina
Cortés, Fanny
Faundes, Víctor
Mellado, Cecilia
Passalacqua, Cristóbal
Sanz, Patricia
Castillo Taucher, Silvia
Pokaż więcej
Temat :
Pediatrics, Perinatology, and Child Health
Anomalías congénitas
Aborto
Alteraciones cromosómicas
Pronóstico
Źródło :
Revista chilena de pediatría v.87 n.5 2016
Opis pliku :
text/html

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