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Susan M White

Showing results (61-70 of 160) with videos related to

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JAMA Pediatrics|June 7, 2017
Association Between Prenatal Alcohol Exposure and Craniofacial Shape of Children at 12 Months of AgeEvelyne Muggli, Harold Matthews, Anthony Penington, et al.
Molecular Syndromology|January 8, 2015
A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal developmentKerry A Miller, Tiong Y Tan, Megan F Welfare, et al.
American Journal of Medical Genetics. Part A|October 16, 2007
Molecular characterization of a novel X-linked syndrome involving developmental delay and deafnessMichael S Hildebrand, Michelle G de Silva, Tiong Yang Tan, et al.
BMC Biotechnology|December 21, 2017
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disabilityTracy Dudding-Byth, Anne Baxter, Elizabeth G Holliday, et al.
Seminars in Pediatric Neurology|July 3, 2018
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere SyndromeIan R Woodcock, Manoj P Menezes, Lee Coleman, et al.
American Journal of Medical Genetics. Part A|December 20, 2013
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletionsTrent Burgess, Natasha J Brown, Zornitza Stark, et al.
European Journal of Human Genetics : EJHG|November 23, 2020
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activityAlexander J M Blakes, Emily Gaul, Wayne Lam, et al.
Genome Medicine|July 29, 2015
Cpipe: a shared variant detection pipeline designed for diagnostic settingsSimon P Sadedin, Harriet Dashnow, Paul A James, et al.
Iscience|April 23, 2026
ISGylation is disrupted by <i>UBA7</i> gene variants identified in individuals with neurodevelopmental disorder phenotypesVenkateshwarlu Bandi, Myrrhe Venema, Iona Wallace, et al.
Human Molecular Genetics|September 8, 2021
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humansNicole J Van Bergen, Katrina M Bell, Kirsty Carey, et al.
Pageof 16

Showing results (61-70 of 160) with videos related to

Sort By:
Pageof 16
JAMA Pediatrics|June 7, 2017
Association Between Prenatal Alcohol Exposure and Craniofacial Shape of Children at 12 Months of AgeEvelyne Muggli, Harold Matthews, Anthony Penington, et al.
Molecular Syndromology|January 8, 2015
A mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal developmentKerry A Miller, Tiong Y Tan, Megan F Welfare, et al.
American Journal of Medical Genetics. Part A|October 16, 2007
Molecular characterization of a novel X-linked syndrome involving developmental delay and deafnessMichael S Hildebrand, Michelle G de Silva, Tiong Yang Tan, et al.
BMC Biotechnology|December 21, 2017
Computer face-matching technology using two-dimensional photographs accurately matches the facial gestalt of unrelated individuals with the same syndromic form of intellectual disabilityTracy Dudding-Byth, Anne Baxter, Elizabeth G Holliday, et al.
Seminars in Pediatric Neurology|July 3, 2018
Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere SyndromeIan R Woodcock, Manoj P Menezes, Lee Coleman, et al.
American Journal of Medical Genetics. Part A|December 20, 2013
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletionsTrent Burgess, Natasha J Brown, Zornitza Stark, et al.
European Journal of Human Genetics : EJHG|November 23, 2020
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activityAlexander J M Blakes, Emily Gaul, Wayne Lam, et al.
Genome Medicine|July 29, 2015
Cpipe: a shared variant detection pipeline designed for diagnostic settingsSimon P Sadedin, Harriet Dashnow, Paul A James, et al.
Iscience|April 23, 2026
ISGylation is disrupted by <i>UBA7</i> gene variants identified in individuals with neurodevelopmental disorder phenotypesVenkateshwarlu Bandi, Myrrhe Venema, Iona Wallace, et al.
Human Molecular Genetics|September 8, 2021
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humansNicole J Van Bergen, Katrina M Bell, Kirsty Carey, et al.
Pageof 16