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Archives of Disease in Childhood|September 5, 2019
Exome sequencing in patients with antiepileptic drug exposure and complex phenotypesAdam Jackson, Heather Ward, Rebecca Louise Bromley, et al.Blood|July 7, 2011
Prolonged self-renewal activity unmasks telomerase control of telomere homeostasis and function of mouse hematopoietic stem cellsSanja Sekulovic, Vala Gylfadottir, Irma Vulto, et al.American Journal of Medical Genetics|January 30, 1995
Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X)R J Gibbons, L Brueton, V J Buckle, et al.Journal of Neurology, Neurosurgery, and Psychiatry|February 2, 2013
The prevalence of neurodevelopmental disorders in children prenatally exposed to antiepileptic drugsRebecca Louise Bromley, George E Mawer, Maria Briggs, et al.Journal of Medical Genetics|June 3, 1999
Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeresA Slavotinek, M Rosenberg, S Knight, et al.American Journal of Medical Genetics. Part A|February 9, 2019
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disabilityPantelis Nicola, Patrick R Blackburn, Kristen J Rasmussen, et al.Ophthalmology|August 24, 2014
Personalized diagnosis and management of congenital cataract by next-generation sequencingRachel L Gillespie, James O'Sullivan, Jane Ashworth, et al.American Journal of Medical Genetics. Part A|December 31, 2003
Unexpected death and critical illness in Prader-Willi syndrome: report of ten individualsDavid A Stevenson, Theresa M Anaya, Jill Clayton-Smith, et al.Seizure|December 29, 2009
Pregnancy with epilepsy: obstetric and neonatal outcome of a controlled studyG Mawer, M Briggs, G A Baker, et al.Journal of Human Genetics|January 16, 2015
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2Panagiotis I Sergouniotis, Jill E Urquhart, Simon G Williams, et al.Pageof 36