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Human Genetics|October 27, 2005
Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathySarah A Shoichet, Laurence Duprez, Olivier Hagens, et al.Journal of Cell Science|January 22, 2002
Formation of higher-order nuclear Rad51 structures is functionally linked to p21 expression and protection from DNA damage-induced apoptosisElke Raderschall, Alex Bazarov, Jiangping Cao, et al.American Journal of Medical Genetics. Part A|July 16, 2008
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndromeVera M Kalscheuer, Ilse Feenstra, Conny M A Van Ravenswaaij-Arts, et al.Human Molecular Genetics|November 9, 2007
Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophreniaGeorge Kirov, Dilihan Gumus, Wei Chen, et al.Developmental Biology|July 10, 2004
Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissuesWei Shi, José A J M van den Hurk, Victor Alamo-Bethencourt, et al.Journal of Neurochemistry|August 16, 2012
Ca++/CaMKII switches nociceptor-sensitizing stimuli into desensitizing stimuliTim Hucho, Vanessa Suckow, Elizabeth K Joseph, et al.American Journal of Medical Genetics. Part A|July 5, 2013
A novel ALDH5A1 mutation is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability in an Iranian familyLucia Püttmann, Henning Stehr, Masoud Garshasbi, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 20, 2018
CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disabilitySomayeh Kazeminasab, Ibrahim Ihsan Taskiran, Zohreh Fattahi, et al.Human Mutation|March 17, 2006
Novel JARID1C/SMCX mutations in patients with X-linked mental retardationAndreas Tzschach, Steffen Lenzner, Bettina Moser, et al.The Journal of Molecular Diagnostics : JMD|September 26, 2009
A new chromosome x exon-specific microarray platform for screening of patients with X-linked disordersStavros Bashiardes, Ludmila Kousoulidou, Hans van Bokhoven, et al.Pageof 13