Showing results (121-130 of 166) with videos related to
Sort By:
Pageof 17
Journal of Medical Genetics|December 8, 2011
Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashionEva Klopocki, Silke Lohan, Sandra C Doelken, et al.American Journal of Human Genetics|December 7, 2014
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndromeNadja Ehmke, Almuth Caliebe, Rainer Koenig, et al.Journal of Medical Genetics|June 26, 2007
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeMartin Zenker, Denise Horn, Dagmar Wieczorek, et al.Proceedings of the National Academy of Sciences of the United States of America|January 6, 2021
A CRISPR-Cas9-engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctionsMiguel Rodríguez de Los Santos, Marion Rivalan, Friederike S David, et al.Human Genetics|April 15, 2019
Variants in KIAA0825 underlie autosomal recessive postaxial polydactylyIrfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 14, 2017
Noncoding copy-number variations are associated with congenital limb malformationRicarda Flöttmann, Bjørt K Kragesteen, Sinje Geuer, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 13, 2022
Biallelic variants in ADAMTS15 cause a novel form of distal arthrogryposisFelix Boschann, Muhsin Ö Cogulu, Davut Pehlivan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2019
PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristicsAllan Bayat, Alexej Knaus, Annika Wollenberg Juul, et al.American Journal of Medical Genetics. Part A|June 18, 2016
CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotypeLeonie A Menke, Martine J van Belzen, Marielle Alders, et al.American Journal of Human Genetics|May 31, 2016
A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones SyndromeStephen R F Twigg, Robert B Hufnagel, Kerry A Miller, et al.Pageof 17