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European Journal of Human Genetics : EJHG|July 9, 2015
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activationAnja K Mayer, Klaus Rohrschneider, Tim M Strom, et al.
Pediatrics|April 4, 2018
Blue Diaper Syndrome and PCSK1 MutationsFelix Distelmaier, Diran Herebian, Claudia Atasever, et al.
Case Reports in Genetics|December 8, 2017
SOX5-Null Heterozygous Mutation in a Family with Adult-Onset Hyperkinesia and Behavioral AbnormalitiesMichael Zech, Katharina Poustka, Sylvia Boesch, et al.
BMC Genomics|April 19, 2015
Genomic factors related to tissue tropism in Chlamydia pneumoniae infectionThomas Weinmaier, Jonathan Hoser, Sebastian Eck, et al.
Plos Genetics|March 4, 2014
Classic selective sweeps revealed by massive sequencing in cattleSaber Qanbari, Hubert Pausch, Sandra Jansen, et al.
Bone|July 23, 2004
FGF23 is processed by proprotein convertases but not by PHEXAnna Benet-Pagès, Bettina Lorenz-Depiereux, Hans Zischka, et al.
American Journal of Medical Genetics. Part A|August 14, 2009
Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterizationMaja Hempel, Nuria Rivera Brugués, Janine Wagenstaller, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprintedMonika Grabowski, Alexander Zimprich, Bettina Lorenz-Depiereux, et al.
Brain : a Journal of Neurology|September 28, 2007
Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotypeFriedrich Asmus, Lena Elisabeth Hjermind, Erik Dupont, et al.
European Journal of Human Genetics : EJHG|May 11, 2017
Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limbMuhammad Umair, Khadim Shah, Bader Alhaddad, et al.
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