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Developmental Medicine and Child Neurology|February 22, 2025
Pathogenic variants in chromatin-related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disordersRussell C Dale, Shekeeb Mohammad, Velda X Han, et al.American Journal of Medical Genetics. Part A|June 18, 2019
Expanding the phenotype of intellectual disability caused by HIVEP2 variantsHeidi Goldsmith, Anna Wells, Maria J N Sá, et al.American Journal of Medical Genetics. Part A|January 11, 2013
Maternal attitudes to newborn screening for fragile X syndromeLouise Christie, Tiffany Wotton, Bruce Bennetts, et al.Clinical Dysmorphology|July 6, 2019
Expansion of phenotype of DDX3X syndrome: six new casesBryony Beal, Ian Hayes, Julie McGaughran, et al.Journal of Medical Genetics|January 25, 2024
Genotype and phenotype correlation of PHACTR1-related neurological disordersZhao Xu, Lynette Sadleir, Himanshu Goel, et al.Orphanet Journal of Rare Diseases|July 27, 2025
Safety findings from the phase 1/2 MOSAIC study of miransertib for patients with PIK3CA-related overgrowth spectrum or Proteus syndromeWhitney Eng, Ionela Iacobas, Jonathan Perkins, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|February 29, 2024
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication interventionElana J Forbes, Lottie D Morison, Fatma Lelik, et al.American Journal of Medical Genetics. Part A|April 28, 2017
KBG syndrome: An Australian experienceNatalia Murray, Bronwyn Burgess, Robin Hay, et al.Developmental Medicine and Child Neurology|June 10, 2021
Severe speech impairment is a distinguishing feature of FOXP1-related disorderRuth O Braden, David J Amor, Simon E Fisher, et al.Ebiomedicine|August 27, 2022
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case seriesSimone Seiffert, Manuela Pendziwiat, Tatjana Bierhals, et al.Pageof 11