Showing results (221-230 of 289) with videos related to
Sort By:
Pageof 29
Attention Deficit and Hyperactivity Disorders|July 23, 2011
Potential cognitive endophenotypes in multigenerational families: segregating ADHD from a genetic isolateDavid A Pineda, Francisco Lopera, Isabel C Puerta, et al.Lancet (London, England)|July 10, 2002
Association between conformational mutations in neuroserpin and onset and severity of dementiaRichard L Davis, Antony E Shrimpton, Robin W Carrell, et al.Pediatrics|May 16, 2012
Incidental medical information in whole-exome sequencingBenjamin D Solomon, Donald W Hadley, Daniel E Pineda-Alvarez, et al.Bone|January 11, 2020
Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangismNadja Ehmke, Kristina Cusmano-Ozog, Rainer Koenig, et al.Journal of Medical Genetics|July 14, 2012
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic HedgehogBenjamin D Solomon, Kelly A Bear, Adrian Wyllie, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 23, 2017
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristicsKarin Weiss, Paul Kruszka, Maria J Guillen Sacoto, et al.Journal of Medical Genetics|June 9, 2017
Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defectsPaul Kruszka, Pranoot Tanpaiboon, Katherine Neas, et al.Journal of Medical Genetics|November 22, 2014
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndromePaul Kruszka, Dong Li, Margaret H Harr, et al.American Journal of Medical Genetics. Part A|November 16, 2007
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literatureEmily S Doherty, Felicitas Lacbawan, Donald W Hadley, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 19, 2018
MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancerMaegan E Roberts, Sarah A Jackson, Lisa R Susswein, et al.Pageof 29