Showing results (381-390 of 443) with videos related to
Sort By:
Pageof 45
American Journal of Human Genetics|May 6, 2017
CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping ConditionsDarci T Butcher, Cheryl Cytrynbaum, Andrei L Turinsky, et al.Prenatal Diagnosis|October 18, 2008
Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counselingBrigitte Simon-Bouy, Agnès Taillandier, Delphine Fauvert, et al.Prenatal Diagnosis|December 6, 2023
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysisGillian V Blayney, Eoghan Laffan, Preethi A Jacob, et al.Journal of Medical Genetics|March 31, 2018
Chitayat-Hall and Schaaf-Yang syndromes:a common aetiology: expanding the phenotype of MAGEL2-related disordersRebekah Jobling, Dimitri James Stavropoulos, Christian R Marshall, et al.BMC Pregnancy and Childbirth|February 12, 2022
Adapting obstetric and neonatal services during the COVID-19 pandemic: a scoping reviewShira Gold, Lauren Clarfield, Jennie Johnstone, et al.JAMA Network Open|September 22, 2020
Genome Sequencing as a Diagnostic Test in Children With Unexplained Medical ComplexityGregory Costain, Susan Walker, Maria Marano, et al.European Journal of Human Genetics : EJHG|May 22, 2024
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart diseaseKaitlin J Stanley, Kelsey J Kalbfleisch, Olivia M Moran, et al.American Journal of Human Genetics|May 14, 2013
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disordersMasahiro Nakajima, Shuji Mizumoto, Noriko Miyake, et al.Brain Communications|December 15, 2021
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathyLaura C Bott, Mitra Forouhan, Maria Lieto, et al.Epilepsia|September 27, 2016
The molecular and phenotypic spectrum of IQSEC2-related epilepsyAyelet Zerem, Kazuhiro Haginoya, Dorit Lev, et al.Pageof 45