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Tytuł:
Feasibility of low-intensity psychological interventions for emotional and behavioural difficulties in children and young people with genetic conditions: a case series.
Autorzy:
Ching, Brian C.F. (AUTHOR)
Bennett, Sophie D. (AUTHOR)
Rojas, Natalia (AUTHOR)
Heyman, Isobel (AUTHOR)
Liang, Holan (AUTHOR)
Catanzano, Matteo (AUTHOR)
Coughtrey, Anna E. (AUTHOR)
Ashraf, Tazeen (AUTHOR)
Jones, Wendy D. (AUTHOR)
Male, Alison (AUTHOR)
Shafran, Roz (AUTHOR)
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Źródło:
Cognitive Behaviour Therapist. 2022, Vol. 15, p1-15. 15p.
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study
Autorzy:
Adams, Lisa
Adlard, Julian
Alfonso, Rosa
Ali, Saira
Andrew, Angela
Araújo, Luís
Azam, Nazya
Ball, Darran
Barker, Queenstone
Basevitch, Alon
Benton, Barbara
Berlin, Cheryl
Bermingham, Nicola
Biller, Leah
Bloss, Angela
Bradford, Matilda
Bradshaw, Nicola
Branson, Amy
Brendler, Charles
Brennan, Maria
Bulman, Barbara
Burgess, Lucy
Cahill, Declan
Callard, Alice
Calvo Verges, Nuria
Cardoso, Marta
Carter, Vanda
Catanzaro, Mario
Chamberlain, Anthony
Chapman, Cyril
Chong, Michael
Clark, Caroline
Clowes, Virginia
Cogley, Lyn
Cole, Trevor
Compton, Cecilia
Conner, Tom
Cookson, Sandra
Cornford, Philip
Costello, Philandra
Coulier, Laura
Davies, Michaela
Dechet, Christopher
DeSouza, Bianca
Devlin, Gemma
Douglas, Fiona
Douglas, Emma
Dudakia, Darshna
Duncan, Alexis
Ellery, Natalie
Everest, Sarah
Freemantle, Sue
Frydenberg, Mark
Fuller, Debbie
Gabriel, Camila
Gale, Madeline
Garcia, Lynda
Gay, Simona
Genova, Elena
George, Angela
Georgiou, Demetra
Gisbert, Alexandra
Gleeson, Margaret
Glover, Wayne
Gnanapragasam, Vincent
Goff, Sally
Goldgar, David
Gonçalves, Nuno
Goodman, Selina
Gorrie, Jennifer
Gott, Hannah
Grant, Anna
Gray, Catherine
Griffiths, Julie
Gupwell, Karin
Gurasashvili, Jana
Hanslien, Eldbjørg
Haraldsdottir, Sigurdis
Hart, Rachel
Hartigan, Catherine
Hawkes, Lara
Heaton, Tricia
Henderson, Alex
Henrique, Rui
Hilario, Kathrine
Hill, Kathryn
Hulick, Peter
Hunt, Clare
Hutchings, Melanie
Ibitoye, Rita
Inglehearn, Thomas
Ireland, Joanna
Islam, Farah
Ismail, Siti
Jacobs, Chris
James, Denzil
Jenkins, Sharon
Jobson, Irene
Johnstone, Anne
Jones, Oliver
Josefsberg Ben-Yehoshua, Sagi
Kaemba, Beckie
Kaul, Karen
Kemp, Zoe
Kinsella, Netty
Klehm, Margaret
Kockelbergh, Roger
Kohut, Kelly
Kosicka-Slawinska, Monika
Kulkarni, Anjana
Kumar, Pardeep
Lam, Jimmy
LeButt, Mandy
Leibovici, Dan
Lim, Ramona
Limb, Lauren
Lomas, Claire
Longmuir, Mark
López, Consol
Magnani, Tiziana
Maia, Sofia
Maiden, Jessica
Male, Alison
Manalo, Merrie
Martin, Phoebe
McBride, Donna
McGuire, Michael
McMahon, Romayne
McNally, Claire
McVeigh, Terri
Melzer, Ehud
Mencias, Mark
Mercer, Catherine
Mitchell, Gillian
Mora, Josefina
Morton, Catherine
Moss, Cathryn
Murphy, Morgan
Murphy, Declan
Mzazi, Shumi
Nadolski, Maria
Newlin, Anna
Nogueira, Pedro
O'Keefe, Rachael
O'Toole, Karen
O'Connell, Shona
Ogden, Chris
Okoth, Linda
Oliveira, Jorge
Paez, Edgar
Palou, Joan
Park, Linda
Patel, Nafisa
Paulo Souto, João
Pearce, Allison
Peixoto, Ana
Perez, Kimberley
Petelin, Lara
Pichert, Gabriella
Poile, Charlotte
Potter, Alison
Preitner, Nadia
Purnell, Helen
Quinn, Ellen
Radice, Paolo
Rankin, Brigette
Rees, Katie
Renton, Caroline
Richardson, Kate
Risby, Peter
Rogers, Jason
Ruderman, Maggie
Ruiz, April
Sajoo, Anaar
Salvatore, Natale
Sands, Victoria
Sanguedolce, Francesco
Sattar, Ayisha
Saunders, Kathryn
Schofield, Lyn
Scott, Rodney
Searle, Anne
Sehra, Ravinder
Selkirk, Christina
Shackleton, Kylie
Shanley, Sue
Shaw, Adam
Shevrin, Daniel
Shipman, Hannah
Sidat, Zahirah
Siguake, Kas
Simon, Kate
Smyth, Courtney
Snadden, Lesley
Solanky, Nita
Solomons, Joyce
Sorrentino, Margherita
Stayner, Barbara
Stephenson, Robert
Stoffel, Elena
Thomas, Maggie
Thompson, Alan
Tidey, Lizzie
Tischkowitz, Marc
Torokwa, Audrey
Townshend, Sharron
Treherne, Katy
Tricker, Karen
Trinh, Quoc-Dien
Tripathi, Vishakha
Turnbull, Clare
Valdagni, Riccardo
Van As, Nicholas
Venne, Vickie
Verdon, Lizzie
Vitellaro, Marco
Vogel, Kristen
Walker, Lisa
Watford, Amy
Watt, Cathy
Weintroub, Ilana
Weiss, Shelly
Weissman, Scott
Weston, Michelle
Wiggins, Jennifer
Wise, Gillian
Woodhouse, Christopher
Yesildag, Pembe
Youngs, Alice
Yurgelun, Matthew
Zollo, Fabiana
Bancroft, Elizabeth K
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Źródło:
In The Lancet Oncology November 2021 22(11):1618-1631
Czasopismo naukowe
Szczegóły
Tytuł:
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
Autorzy:
Nemani T; Department of Paediatric Neurology, Great Ormond Street Hospital, London, UK.
Steel D; Department of Paediatric Neurology, Great Ormond Street Hospital, London, UK.; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child, London, UK.
Kaliakatsos M; Department of Paediatric Neurology, Great Ormond Street Hospital, London, UK.
DeVile C; Department of Paediatric Neurology, Great Ormond Street Hospital, London, UK.
Ververi A; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
Scott R; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
Getov S; Department of Neurophysiology, Great Ormond Street Hospital, London, UK.
Sudhakar S; Department of Radiology, Great Ormond Street Hospital, London, UK.
Male A; Department of Clinical Genetics, Great Ormond Street Hospital, London, UK.
Mankad K; Department of Radiology, Great Ormond Street Hospital, London, UK.
Muntoni F; Department of Paediatric Neurology, Great Ormond Street Hospital, London, UK.; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child, London, UK.
Reilly MM; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK.
Kurian MA; Department of Paediatric Neurology, Great Ormond Street Hospital, London, UK.; Department of Developmental Neurosciences, UCL Great Ormond Street Institute of Child, London, UK.
Carr L; Department of Paediatric Neurology, Great Ormond Street Hospital, London, UK.
Munot P; Department of Paediatric Neurology, Great Ormond Street Hospital, London, UK.
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Corporate Authors:
Genomics England Research Consortium; Genomics England, Queen Mary University of London, UK.
Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2020 Jun; Vol. 25 (2), pp. 117-124. Date of Electronic Publication: 2020 Mar 06.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Central Nervous System Diseases*/diagnosis
Central Nervous System Diseases*/genetics
Central Nervous System Diseases*/pathology
Central Nervous System Diseases*/physiopathology
Dystonia*/diagnosis
Dystonia*/genetics
Dystonia*/pathology
Dystonia*/physiopathology
Peripheral Nervous System Diseases*/diagnosis
Peripheral Nervous System Diseases*/genetics
Peripheral Nervous System Diseases*/pathology
Peripheral Nervous System Diseases*/physiopathology
Primary Dysautonomias*/diagnosis
Primary Dysautonomias*/genetics
Primary Dysautonomias*/pathology
Primary Dysautonomias*/physiopathology
Spastic Paraplegia, Hereditary*/diagnosis
Spastic Paraplegia, Hereditary*/genetics
Spastic Paraplegia, Hereditary*/pathology
Spastic Paraplegia, Hereditary*/physiopathology
Kinesins/*genetics
Adult ; Child ; Female ; Humans ; Infant ; Male ; Retrospective Studies ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome‐related disorders.
Autorzy:
Vogt, Julie (AUTHOR)
Al‐Saedi, Atif (AUTHOR)
Willis, Tracey (AUTHOR)
Male, Alison (AUTHOR)
McKie, Arthur (AUTHOR)
Kiely, Nigel (AUTHOR)
Maher, Eamonn R. (AUTHOR)
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Źródło:
Clinical Genetics. Jun2020, Vol. 97 Issue 6, p908-914. 7p. 1 Color Photograph, 1 Diagram, 1 Chart.
Czasopismo naukowe
Szczegóły
Tytuł:
Mutations in ZBTB20 cause Primrose syndrome.
Autorzy:
Cordeddu V; 1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2].
Redeker B; 1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2].
Stellacci E; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
Jongejan A; Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Fragale A; Dipartimento di Malattie Infettive, Parassitarie e Immunomediate, Istituto Superiore di Sanità, Rome, Italy.
Bradley TE; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Anselmi M; Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
Ciolfi A; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
Cecchetti S; Dipartimento di Biologia Cellulare e Neuroscienze, Istituto Superiore di Sanità, Rome, Italy.
Muto V; Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
Bernardini L; Laboratorio Mendel, Fondazione Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Azage M; Department of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Carvalho DR; Medical Genetic Unit, SARAH Network of Rehabilitation Hospitals, Brasilia, Brazil.
Espay AJ; Department of Neurology, University of Cincinnati, Gardner Family Center for Parkinson's Disease and Movement Disorders, Cincinnati, Ohio, USA.
Male A; Clinical Genetics Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, UK.
Molin AM; Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden.
Posmyk R; Podlaskie Center of Clinical Genetics, Białystok, Poland.
Battisti C; Dipartimento di Scienze Neurologiche, Neurochirurgiche e del Comportamento, Università degli Studi di Siena, Policlinico Le Scotte, Siena, Italy.
Casertano A; Dipartimento di Pediatria, Facoltà di Medicina e Chirurgia, Università 'Federico II', Naples, Italy.
Melis D; Dipartimento di Pediatria, Facoltà di Medicina e Chirurgia, Università 'Federico II', Naples, Italy.
van Kampen A; Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Baas F; Department of Genome Analysis, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Mannens MM; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.
Bocchinfuso G; Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
Stella L; Dipartimento di Scienze e Tecnologie Chimiche, Università 'Tor Vergata', Rome, Italy.
Tartaglia M; 1] Dipartimento di Ematologia, Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy. [2].
Hennekam RC; 1] Department of Clinical Genetics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [2] Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands. [3].
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Źródło:
Nature genetics [Nat Genet] 2014 Aug; Vol. 46 (8), pp. 815-7. Date of Electronic Publication: 2014 Jul 13.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mutation, Missense*
Abnormalities, Multiple/*genetics
Calcinosis/*genetics
Ear Diseases/*genetics
Intellectual Disability/*genetics
Muscular Atrophy/*genetics
Nerve Tissue Proteins/*genetics
Transcription Factors/*genetics
Amino Acid Sequence ; Base Sequence ; Cell Line ; Chromosome Deletion ; Chromosomes, Human, Pair 3 ; Developmental Disabilities/genetics ; Female ; Genetic Predisposition to Disease ; HEK293 Cells ; Humans ; Male ; Models, Molecular ; Molecular Sequence Data ; Sequence Homology, Amino Acid
SCR Disease Name:
Primrose syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Autorzy:
Czeschik JC; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Hufelandstr, 55, 45122, Essen, Germany. .
Bauer P
Buiting K
Dufke C
Guillén-Navarro E
Johnson DS
Koehler U
López-González V
Lüdecke HJ
Male A
Morrogh D
Rieß A
Tzschach A
Wieczorek D
Kuechler A
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2013 Sep 21; Vol. 8, pp. 146. Date of Electronic Publication: 2013 Sep 21.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Mental Retardation, X-Linked/*genetics
Adolescent ; Adult ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Mental Retardation, X-Linked/diagnosis ; Mutation, Missense/genetics ; Real-Time Polymerase Chain Reaction ; Ubiquitin-Conjugating Enzymes/genetics ; Young Adult
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.
Autorzy:
Rice GI; Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, UK.
Kasher PR
Forte GM
Mannion NM
Greenwood SM
Szynkiewicz M
Dickerson JE
Bhaskar SS
Zampini M
Briggs TA
Jenkinson EM
Bacino CA
Battini R
Bertini E
Brogan PA
Brueton LA
Carpanelli M
De Laet C
de Lonlay P
del Toro M
Desguerre I
Fazzi E
Garcia-Cazorla A
Heiberg A
Kawaguchi M
Kumar R
Lin JP
Lourenco CM
Male AM
Marques W Jr
Mignot C
Olivieri I
Orcesi S
Prabhakar P
Rasmussen M
Robinson RA
Rozenberg F
Schmidt JL
Steindl K
Tan TY
van der Merwe WG
Vanderver A
Vassallo G
Wakeling EL
Wassmer E
Whittaker E
Livingston JH
Lebon P
Suzuki T
McLaughlin PJ
Keegan LP
O'Connell MA
Lovell SC
Crow YJ
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Źródło:
Nature genetics [Nat Genet] 2012 Nov; Vol. 44 (11), pp. 1243-8. Date of Electronic Publication: 2012 Sep 23.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Interferon Type I*/genetics
Interferon Type I*/metabolism
Adenosine Deaminase/*genetics
Autoimmune Diseases of the Nervous System/*genetics
Nervous System Malformations/*genetics
RNA, Double-Stranded/*metabolism
Alu Elements/genetics ; Animals ; Exome ; Gene Expression ; Humans ; Mice ; Mutation ; Protein Conformation ; RNA, Double-Stranded/genetics ; RNA-Binding Proteins ; Sequence Analysis, DNA ; Signal Transduction ; Structure-Activity Relationship
SCR Disease Name:
Aicardi-Goutieres syndrome
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
The rs10993994 risk allele for prostate cancer results in clinically relevant changes in microseminoprotein-beta expression in tissue and urine.
Autorzy:
Whitaker HC; Uro-Oncology Research Group, CRUK Cambridge Research Institute, Cambridge, United Kingdom. />Kote-Jarai Z
Ross-Adams H
Warren AY
Burge J
George A
Bancroft E
Jhavar S
Leongamornlert D
Tymrakiewicz M
Saunders E
Page E
Mitra A
Mitchell G
Lindeman GJ
Evans DG
Blanco I
Mercer C
Rubinstein WS
Clowes V
Douglas F
Hodgson S
Walker L
Donaldson A
Izatt L
Dorkins H
Male A
Tucker K
Stapleton A
Lam J
Kirk J
Lilja H
Easton D
Cooper C
Eeles R
Neal DE
Pokaż więcej
Corporate Authors:
IMPACT Study Steering Committee
IMPACT Study Collaborators
UK GPCS Collaborators
Źródło:
PloS one [PLoS One] 2010 Oct 13; Vol. 5 (10), pp. e13363. Date of Electronic Publication: 2010 Oct 13.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Alleles*
Genetic Predisposition to Disease*
Prostatic Neoplasms/*genetics
Prostatic Secretory Proteins/*genetics
Biomarkers, Tumor/genetics ; Biomarkers, Tumor/metabolism ; Biomarkers, Tumor/urine ; Enzyme-Linked Immunosorbent Assay ; Genotype ; Humans ; Immunohistochemistry ; Male ; Prostate-Specific Antigen/blood ; Prostate-Specific Antigen/urine ; Prostatic Neoplasms/metabolism ; Prostatic Neoplasms/urine ; Prostatic Secretory Proteins/metabolism ; Prostatic Secretory Proteins/urine
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
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