Showing results (131-140 of 223) with videos related to

Sort By:
Pageof 23
Research in Developmental Disabilities|February 18, 2026
Communicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic reviewZuzanna Laudańska, Patrice van der Venne, Helena Preis, et al.
American Journal of Medical Genetics. Part A|October 11, 2018
Schaaf-Yang syndrome overview: Report of 78 individualsJohn McCarthy, Philip J Lupo, Erin Kovar, et al.
HGG Advances|June 23, 2026
Clustered monoallelic mosaicism in twins suggests previously unrecognized path of mutagenesisJonas Böhnlein, Johann G Maass, Julia Dennig, et al.
Nature Genetics|October 1, 2013
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autismChristian P Schaaf, Manuel L Gonzalez-Garay, Fan Xia, et al.
American Journal of Medical Genetics. Part A|August 18, 2017
Clinical and molecular characterization of de novo loss of function variants in HNRNPUMagalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, et al.
Langenbeck'S Archives of Surgery|June 12, 2026
Interdisciplinary vascular genetics evaluations in routine clinical care: insights from a five-year single-center experienceSebastian Burkart, Sebastian Sailer, Daniel Körfer, et al.
Acta Biomaterialia|November 27, 2016
Harnessing Wharton's jelly stem cell differentiation into bone-like nodule on calcium phosphate substrate without osteoinductive factorsS Mechiche Alami, H Rammal, C Boulagnon-Rombi, et al.
BMC Medical Genetics|August 14, 2012
A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3' untranslated region in the MECP2 duplication phenotypeNeil A Hanchard, Claudia M B Carvalho, Patricia Bader, et al.
Scientific Reports|October 31, 2025
In-depth behavioral characterization of a rat model of Schaaf-Yang syndromeFelix Franke, Semih Ertürk, Johann G Maass, et al.
Orphanet Journal of Rare Diseases|October 20, 2020
The adult phenotype of Schaaf-Yang syndromeFelix Marbach, Magdeldin Elgizouli, Megan Rech, et al.
Pageof 23