Showing results (21-30 of 41) with videos related to
Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|February 21, 2018
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndromeLeonie A Menke, , Thatjana Gardeitchik, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 28, 2013
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literatureFrédérique Béna, Damien L Bruno, Mats Eriksson, et al.American Journal of Medical Genetics. Part A|March 3, 2015
Refinement of genotype-phenotype correlation in 18 patients carrying a 1q24q25 deletionNicolas Chatron, Véronique Haddad, Joris Andrieux, et al.American Journal of Human Genetics|August 25, 2015
Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver SyndromeJosephina A N Meester, Laura Southgate, Anna-Barbara Stittrich, et al.American Journal of Human Genetics|August 30, 2016
DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human GenomeRicky S Joshi, Paras Garg, Noah Zaitlen, et al.American Journal of Human Genetics|March 31, 2022
De novo variants in ATP2B1 lead to neurodevelopmental delayMeer Jacob Rahimi, Nicole Urban, Meret Wegler, et al.Frontiers in Cell and Developmental Biology|February 2, 2023
<i>PHIP</i>-associated Chung-Jansen syndrome: Report of 23 new individualsAntje Kampmeier, Elsa Leitão, Ilaria Parenti, et al.HGG Advances|April 26, 2022
Variants in <i>PHF8</i> cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K Sobering, Laura M Bryant, Dong Li, et al.American Journal of Human Genetics|December 13, 2016
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone AcetylationKezhi Yan, Justine Rousseau, Rebecca Okashah Littlejohn, et al.International Journal of Molecular Sciences|November 26, 2022
Episignature Mapping of <i>TRIP12</i> Provides Functional Insight into Clark-Baraitser SyndromeLiselot van der Laan, Kathleen Rooney, Mariëlle Alders, et al.Pageof 5