Showing results (271-280 of 408) with videos related to
Sort By:
Pageof 41
American Journal of Human Genetics|May 10, 2011
Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPPLisenka E L M Vissers, Ekkehart Lausch, Sheila Unger, et al.European Journal of Human Genetics : EJHG|February 2, 2012
Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicismDavid A Koolen, Juliette Dupont, Nicole de Leeuw, et al.American Journal of Human Genetics|April 10, 2012
Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencingAndy Itsara, Lisenka E L M Vissers, Karyn Meltz Steinberg, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2018
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disordersRoos van der Donk, Sandra Jansen, Janneke H M Schuurs-Hoeijmakers, et al.Nature Genetics|June 21, 2016
Parent-of-origin-specific signatures of de novo mutationsJakob M Goldmann, Wendy S W Wong, Michele Pinelli, et al.Nature Genetics|October 7, 2018
Author Correction: Parent-of-origin-specific signatures of de novo mutationsJakob M Goldmann, Wendy S W Wong, Michele Pinelli, et al.Nature Genetics|November 16, 2010
A de novo paradigm for mental retardationLisenka E L M Vissers, Joep de Ligt, Christian Gilissen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Phenotype based prediction of exome sequencing outcome using machine learning for neurodevelopmental disordersAlexander J M Dingemans, Max Hinne, Sandra Jansen, et al.The Journal of Infection|October 29, 2021
Chemokine profiling in children and adults with symptomatic and asymptomatic respiratory viral infectionsG Den Hartog, T H A Ederveen, P B Venkatasubramanian, et al.American Journal of Human Genetics|June 4, 2026
HiFi sequencing accurately identifies clinically relevant variants in paralogous genesBart van der Sanden, Christian Betz, Katharina Herzog, et al.Pageof 41