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Pediatrics|February 5, 2008
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardationAgatino Battaglia, H Eugene Hoyme, Bruno Dallapiccola, et al.American Journal of Medical Genetics. Part A|April 18, 2018
Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiersMarta Unolt, Paolo Versacci, Silvia Anaclerio, et al.Epilepsy Research|June 23, 2018
PCDH19-related epilepsy in a male with Klinefelter syndrome: Additional evidence supporting PCDH19 cellular interference disease mechanismEdward J Romasko, Elizabeth T DeChene, Jorune Balciuniene, et al.Genes|January 28, 2026
22q11.2 Deletion Syndrome in Offspring Conceived via Assisted Reproductive Technology Versus SpontaneouslyJennifer Borowka, Terrence Blaine Crowley, Ashika Mani, et al.Journal of Pediatric Gastroenterology and Nutrition|June 1, 2022
Gastrointestinal Features of 22q11.2 Deletion Syndrome Include Chronic Motility Problems From Childhood to AdulthoodRebecca E Kotcher, Daniel B Chait, Jason M Heckert, et al.Congenital Heart Disease|March 17, 2017
Rates of autism and potential risk factors in children with congenital heart defectsJessica L Bean Jaworski, Thomas Flynn, Nancy Burnham, et al.American Journal of Medical Genetics|June 13, 1997
Lateral meningocele syndrome: three new patients and review of the literatureK W Gripp, C I Scott, H E Hughes, et al.American Journal of Human Genetics|May 29, 2000
Additional copies of the proteolipid protein gene causing Pelizaeus-Merzbacher disease arise by separate integration into the X chromosomeM E Hodes, K Woodward, N B Spinner, et al.Human Genetics|July 11, 2002
Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patientsA M Slavotinek, C Searby, L Al-Gazali, et al.Psychological Medicine|September 11, 2013
Psychiatric disorders in 22q11.2 deletion syndrome are prevalent but undertreatedS X Tang, J J Yi, M E Calkins, et al.Pageof 63