نتائج البحث - Meredith Wilson
- يعرض 1 - 20 نتائج من 41
- اذهب إلى الاصفحة التالية
-
1
-
2
-
3
<scp>CHARGE</scp> syndrome: A review حسب Peter Hsu, Alan Ma, Meredith Wilson, George L. Williams, John Curotta, Craig Munns, Sam Mehr
منشور في 2014Revisão -
4
-
5
-
6
Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23. حسب David Mowat, Geoffrey David Hain Croaker, Daniel T. Cass, Bronwyn Kerr, Jeffrey Chaitow, Lesley C. Adès, Nicole Chia, Meredith Wilson
منشور في 1998Artigo -
7
-
8
Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and<i>SOX10</i>Mutations حسب Monique Elmaleh, Clarisse Baumann, N. Noël‐Pétroff, A. Sekkal, V. Couloigner, Koenraad Devriendt, Meredith Wilson, Sandrine Marlin, G. Sebag, Véronique Pingault
منشور في 2012Artigo -
9
What constitutes cerebral palsy in the twenty‐first century? حسب Hayley Smithers‐Sheedy, Nadia Badawi, Eve Blair, Christine Cans, Kate Himmelmann, Ingeborg Krägeloh‐Mann, Sarah McIntyre, Jennie Slee, Peter Uldall, Linda Watson, Meredith Wilson
منشور في 2013Revisão -
10
Quality of life and burden in caregivers of youth with obsessive-compulsive disorder presenting for intensive treatment حسب Monica S. Wu, Rebecca J. Hamblin, Joshua M. Nadeau, J. Alan Simmons, Ashley M. Smith, Meredith Wilson, Stephanie C. Eken, Brent J. Small, Vicky Phares, Eric A. Storch
منشور في 2017Artigo -
11
Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level حسب Stephanie Best, Helen Brown, Sebastian Lunke, Chirag Patel, Jason Pinner, Christopher Barnett, Meredith Wilson, Sarah A. Sandaradura, Belinda McClaren, Gemma R. Brett, Jeffrey Braithwaite, Zornitza Stark
منشور في 2021Artigo -
12
The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy حسب Stephanie Fehr, Meredith Wilson, Jenny Downs, Simon Williams, Alessandra Murgia, Stefano Sartori, Marilena Vecchi, Gladys Ho, Roberta Polli, Stavroula Psoni, Xinhua Bao, Nicholas de Klerk, Helen Leonard, John Christodoulou
منشور في 2012Artigo -
13
-
14
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations حسب Michael Field, Ingrid E. Scheffer, Deepak Gill, Meredith Wilson, Louise Christie, Marie Shaw, Alison Gardner, Georgie C. Glubb, Lynne Hobson, Mark Corbett, Kathryn Friend, Saffron A.G. Willis‐Owen, Jozef Gécz
منشور في 2012Artigo -
15
De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability حسب Detelina Grozeva, Keren Carss, Olivera Spasić-Bošković, Michael Parker, Hayley Archer, Helen V. Firth, Soo‐Mi Park, Natalie Canham, Susan Holder, Meredith Wilson, Anna Hackett, Michael Field, James Floyd, Matthew E. Hurles, F. Lucy Raymond
منشور في 2014Artigo -
16
The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies حسب Patrizia D’Adamo, Lucia Fassone, Ági K. Gedeon, Emiel A. M. Janssen, Silvia Bione, Pieter A. Bolhuis, P. G. Barth, Meredith Wilson, Eric Haan, Karen Helen Örstavik, Michael A. Patton, Andrew Green, Enrico Zammarchi, Maria Alice Donati, Daniela Toniolo
منشور في 1997Artigo -
17
Further delineation of the phenotype associated with heterozygous mutations in <i>ZFHX1B</i> حسب Meredith Wilson, David Mowat, Florence Dastot‐Le Moal, Valère Cacheux, Helena Kääriäinen, Danny Cass, Dian Donnai, Jill Clayton‐Smith, Sharron Townshend, Cynthia J. Curry, Michael Gattas, Stephen R. Braddock, Bronwyn Kerr, Salim Aftimos, Harry Zehnwirth, Catherine Barrey, Michel Goossens
منشور في 2003Artigo -
18
Mutations in Cohesin Complex Members SMC3 and SMC1A Cause a Mild Variant of Cornelia de Lange Syndrome with Predominant Mental Retardation حسب Matthew A. Deardorff, Maninder Kaur, Dinah Yaeger, Abhinav Rampuria, Sergey Korolev, Juan Pié, Concepcion Gil-Rodríguez, María Arnedo, Bart Loeys, Antonie D. Kline, Meredith Wilson, K Lillquist, Victoria Mok Siu, Feliciano J. Ramos, Antonio Musio, Laird S. Jackson, Dale Dorsett, Ian D. Krantz
منشور في 2007Artigo -
19
Parental experiences of ultrarapid genomic testing for their critically unwell infants and children حسب Gemma R. Brett, Melissa Martyn, Fiona Lynch, M. De Silva, Samantha Ayres, Lyndon Gallacher, Kirsten Boggs, Anne Baxendale, Sarah Schenscher, Sarah L. King‐Smith, Lindsay Fowles, Amanda Springer, Sebastian Lunke, Anand Vasudevan, Emma Krzesinski, Jason Pinner, Sarah A. Sandaradura, Christopher Barnett, Chirag Patel, Meredith Wilson, Zornitza Stark
منشور في 2020Artigo -
20
Nemaline myopathy and distal arthrogryposis associated with an autosomal recessive <i>TNNT3</i> splice variant حسب Sarah A. Sandaradura, Adam Bournazos, Amali Mallawaarachchi, Beryl B. Cummings, Leigh B. Waddell, Kristi Jones, Christopher Troedson, Annapurna Sudarsanam, Benjamin M. Nash, Gregory B. Peters, Elizabeth M. Algar, Daniel G. MacArthur, Kathryn N. North, Susan Brammah, Amanda Charlton, Nigel G. Laing, Meredith Wilson, Mark R. Davis, Sandra T. Cooper
منشور في 2017Artigo
أدوات البحث:
موضوعات ذات صلة
Biology
Genetics
Gene
Medicine
Phenotype
Mutation
Pathology
Internal medicine
Disease
Psychology
Computer science
Genome
Pediatrics
Bioinformatics
Candidate gene
Intellectual disability
Microcephaly
Psychiatry
Artificial intelligence
Autism
Cell biology
Developmental psychology
Exome sequencing
Genetic heterogeneity
Genetic testing
Genomics
Intensive care medicine
Audiology
Chromosome
Clinical psychology