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Human Molecular Genetics|December 16, 2014
Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorderRaman Kumar, Mark A Corbett, Nicholas J C Smith, et al.
Scientific Reports|June 1, 2016
Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in MiceDaniel T Pederick, Claire C Homan, Emily J Jaehne, et al.
American Journal of Human Genetics|December 19, 2012
A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXLoredana Poeta, Francesca Fusco, Denise Drongitis, et al.
American Journal of Medical Genetics. Part A|April 18, 2020
CDH1-related blepharocheilodontic syndrome is associated with diffuse gastric cancer riskShannon LeBlanc, Dildeepa Naveen, Eric Haan, et al.
Pediatrics|April 25, 2007
Upper-limb botulinum toxin A injection and occupational therapy in children with hemiplegic cerebral palsy identified from a population register: a single-blind, randomized, controlled trialRemo N Russo, Maria Crotty, Michelle D Miller, et al.
Developmental Medicine and Child Neurology|June 17, 2020
Definition and diagnosis of cerebral palsy in genetic studies: a systematic reviewRyan Pham, Ben W Mol, Jozef Gecz, et al.
BMC Medical Genetics|April 27, 2005
XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneMonica L Stepp, A Lauren Cason, Merran Finnis, et al.
The Journal of Maternal-Fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians|March 1, 2012
Cytomegalovirus and Epstein-Barr virus may be associated with some cases of cerebral palsyGai McMichael, Alastair MacLennan, Catherine Gibson, et al.
Australian and New Zealand Journal of Public Health|December 22, 2005
Health professionals' knowledge, practice and opinions about fetal alcohol syndrome and alcohol consumption in pregnancyJan Payne, Elizabeth Elliott, Heather D'Antoine, et al.
European Journal of Medical Genetics|October 27, 2019
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalitiesMarie Shaw, Anna Winczewska-Wiktor, Magdalena Badura-Stronka, et al.
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