Showing results (191-200 of 283) with videos related to
Sort By:
Pageof 29
Human Genetics|July 3, 2016
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2Lyndal Henden, Saskia Freytag, Zaid Afawi, et al.Orphanet Journal of Rare Diseases|June 11, 2011
TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new familiesElena Andreucci, Salim Aftimos, Melanie Alcausin, et al.Pediatric Pulmonology|August 14, 2012
RPGR mutations might cause reduced orientation of respiratory ciliaZuzanna Bukowy-Bieryłło, Ewa Ziętkiewicz, Niki Tomas Loges, et al.Nature Communications|February 8, 2024
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopmentRudrarup Bhattacharjee, Lachlan A Jolly, Mark A Corbett, et al.European Journal of Human Genetics : EJHG|April 10, 2008
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints, Steffen Lenzner, Mareike Bauters, et al.Nature Genetics|February 14, 2017
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biasesHolly A F Stessman, Bo Xiong, Bradley P Coe, et al.Medrxiv : the Preprint Server for Health Sciences|March 23, 2026
Novel PCDH12 pathogenic missense variants cause neurodevelopmental disorders with ocular malformationJennifer Rakotomamonjy, Lucas Fares-Taie, Raman Kumar, et al.Human Molecular Genetics|January 11, 2007
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factorAsif Ali, Paul T Christie, Irina V Grigorieva, et al.Nature Medicine|May 1, 2024
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsyYangong Wang, Yiran Xu, Chongchen Zhou, et al.American Journal of Human Genetics|June 9, 2004
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardationPatrick Tarpey, Josep Parnau, Matthew Blow, et al.Pageof 29