Showing results (251-260 of 517) with videos related to

Sort By:
Pageof 52
Plos Genetics|March 27, 2007
Genome-wide linkage analysis of malaria infection intensity and mild diseaseChristian Timmann, Jennifer A Evans, Inke R König, et al.
European Journal of Medical Genetics|August 17, 2021
MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare diseaseKatharina Khuller, Gökhan Yigit, Carolina Martínez Grijalva, et al.
Hereditary Cancer in Clinical Practice|December 8, 2017
Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS)Sukanya Horpaopan, Jutta Kirfel, Sophia Peters, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 26, 2001
Evidence for a NOD2-independent susceptibility locus for inflammatory bowel disease on chromosome 16pJochen Hampe, Henning Frenzel, Muddassar M Mirza, et al.
American Journal of Human Genetics|February 23, 2010
Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing lossYun Li, Esther Pohl, Redouane Boulouiz, et al.
Human Molecular Genetics|October 21, 2011
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathyMarian A J Weterman, Vincenzo Sorrentino, Paul R Kasher, et al.
Human Mutation|November 24, 2015
PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and MicrocephalyMaha S Zaki, Raoul Heller, Michaela Thoenes, et al.
Genes|August 27, 2021
A Novel Missense Mutation in <i>TNNI3K</i> Causes Recessively Inherited Cardiac Conduction Disease in a Consanguineous Pakistani FamilyShafaq Ramzan, Stephanie Tennstedt, Muhammad Tariq, et al.
Human Mutation|August 27, 2009
Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomaliesSibel Ugur Iseri, Robert J Osborne, Martin Farrall, et al.
Frontiers in Cell and Developmental Biology|December 5, 2022
Somatic mosaicism in <i>STAG2</i>-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrumJulia Schmidt, Steffi Dreha-Kulaczewski, Maria-Patapia Zafeiriou, et al.
Pageof 52