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Cold Spring Harbor Molecular Case Studies|October 11, 2023
<i>ITPR1</i>-associated spinocerebellar ataxia with craniofacial features-additional evidence for germline mosaicismRobert Kleyner, Nathaniel Ung, Mohammad Arif, et al.
Medrxiv : the Preprint Server for Health Sciences|February 14, 2024
Ophthalmic Manifestations of NAA10-Related and NAA15-Related Neurodevelopmental Syndrome: Analysis of Cortical Visual Impairment and Refractive ErrorsRahi Patel, Agnes Y Park, Elaine Marchi, et al.
American Journal of Medical Genetics. Part A|July 16, 2024
Ophthalmic manifestations of NAA10-related and NAA15-related neurodevelopmental syndromes: Analysis of cortical visual impairment and refractive errorsRahi Patel, Agnes Y Park, Elaine Marchi, et al.
Clinical Case Reports|January 9, 2025
Novel Copy Number Deletion Involving <i>NUS1</i> Associated With Epilepsy, Tremor, and Intellectual DisabilityJing Y Hsu, Daniah H Ibrahim, Riza Ali, et al.
American Journal of Medical Genetics. Part A|October 4, 2024
Assessment of Adaptive Functioning and the Impact of Seizures in KBG SyndromeKathleen P Sarino, Lily Guo, Edward Yi, et al.
Journal of Neuroradiology = Journal De Neuroradiologie|April 9, 2025
Neuroanatomical features of NAA10 and NAA15-related neurodevelopmental syndromesRahi Patel, Rikhil Makwana, Carolina Christ, et al.
Cold Spring Harbor Molecular Case Studies|October 30, 2021
Autosomal recessive <i>SLC30A9</i> variants in a proband with a cerebrorenal syndrome and no parental consanguinityRobert Kleyner, Mohammad Arif, Elaine Marchi, et al.
Autism Research : Official Journal of the International Society for Autism Research|February 3, 2018
Folate receptor autoantibodies are prevalent in children diagnosed with autism spectrum disorder, their normal siblings and parentsEdward V Quadros, Jeffrey M Sequeira, W Ted Brown, et al.
Medrxiv : the Preprint Server for Health Sciences|July 9, 2024
Neuroanatomical Features of NAA10- and NAA15-Related Neurodevelopmental SyndromesRahi Patel, Rikhil Makwana, Carolina Christ, et al.
Journal of Neuroscience Research|January 19, 2012
Effect of DYRK1A activity inhibition on development of neuronal progenitors isolated from Ts65Dn miceBozena Mazur-Kolecka, Adam Golabek, Elizabeth Kida, et al.
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