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Human Molecular Genetics|January 2, 2016
TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse functionWei Ba, Yan Yan, Margot R F Reijnders, et al.Epidemiology and Psychiatric Sciences|July 9, 2020
Intermittent explosive disorder subtypes in the general population: association with comorbidity, impairment and suicidalityK M Scott, Y A de Vries, S Aguilar-Gaxiola, et al.American Journal of Human Genetics|September 22, 2005
Diagnostic genome profiling in mental retardationBert B A de Vries, Rolph Pfundt, Martijn Leisink, et al.Biorxiv : the Preprint Server for Biology|September 11, 2023
SOD1 is a synthetic lethal target in PPM1D-mutant leukemia cellsLinda Zhang, Joanne I Hsu, Etienne D Braekeleer, et al.Genome Medicine|July 2, 2026
De novo variants in NPTN cause a neurodevelopmental disorder with autism and neuroplastin-PMCA hypofunctionYi Liang, Rodrigo Ormazabal-Toledo, Harini Srinivasan, et al.European Journal of Human Genetics : EJHG|May 13, 2010
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndromeVeronica Parri, Eleni Katzaki, Vera Uliana, et al.Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.European Journal of Human Genetics : EJHG|August 1, 2013
A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophyArjan P M de Brouwer, Sander B Nabuurs, Ingrid E C Verhaart, et al.Human Molecular Genetics|April 12, 2013
CEP89 is required for mitochondrial metabolism and neuronal function in man and flyBregje W M van Bon, Merel A W Oortveld, Leo G Nijtmans, et al.Nature|June 5, 2014
Genome sequencing identifies major causes of severe intellectual disabilityChristian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, et al.Pageof 88