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Molecular Genetics and Metabolism|November 26, 2013
Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoringSylvia Stockler-Ipsiroglu, Clara van Karnebeek, Nicola Longo, et al.
Ebiomedicine|July 3, 2022
KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanismFrancesco Miceli, Charissa Millevert, Maria Virginia Soldovieri, et al.
Science Translational Medicine|March 2, 2022
Pathogenic variants in MDFIC cause recessive central conducting lymphatic anomaly with lymphedemaAlicia B Byrne, Pascal Brouillard, Drew L Sutton, et al.
Neurology|December 14, 2018
SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathyDanique R M Vlaskamp, Benjamin J Shaw, Rosemary Burgess, et al.
American Journal of Medical Genetics. Part A|December 21, 2024
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben-Mahmoud, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 30, 2017
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variantsDiana Mitter, Milka Pringsheim, Marc Kaulisch, et al.
Brain : a Journal of Neurology|October 21, 2017
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophySteffen Syrbe, Frederike L Harms, Elena Parrini, et al.
Journal of Medical Genetics|March 19, 2016
Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsyCyril Mignot, Celina von Stülpnagel, Caroline Nava, et al.
Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause neurological, intestinal and immunological diseaseClaire G Salter, Yiying Cai, Bernice Lo, et al.
American Journal of Human Genetics|October 23, 2025
Bi-allelic variants in the ribosomal protein RPS6KC1 cause a complex neurodevelopmental disorderLaura Planas-Serra, Mar Rodríguez-Ruiz, Eric Nathaniel Anderson, et al.
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