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Clinical Genetics|September 23, 2025
HYPK-Related Neurodevelopmental Syndrome: Case Report of Intellectual Disability, Developmental Delay, and Dysmorphic FeaturesRahi Patel, Rikhil Makwana, Elaine Marchi, et al.
Biorxiv : the Preprint Server for Biology|May 10, 2023
Evaluating possible maternal effect lethality and genetic background effects in <i>Naa10</i> knockout miceGholson J Lyon, Joseph Longo, Andrew Garcia, et al.
Plos One|May 7, 2024
Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout miceGholson J Lyon, Joseph Longo, Andrew Garcia, et al.
Arxiv|May 7, 2024
GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical TextsDa Wu, Jingye Yang, Cong Liu, et al.
International Journal of Molecular Sciences|September 13, 2025
Transgenerational Effects and Heritability of Folate Receptor Alpha Autoantibodies in Autism Spectrum DisorderRichard E Frye, Ira L Cohen, Jeffrey M Sequeira, et al.
Cold Spring Harbor Molecular Case Studies|August 8, 2019
<i>VAC14</i> syndrome in two siblings with retinitis pigmentosa and neurodegeneration with brain iron accumulationGholson J Lyon, Elaine Marchi, Joseph Ekstein, et al.
European Journal of Human Genetics : EJHG|August 15, 2022
KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patientsLily Guo, Jiyeon Park, Edward Yi, et al.
Acta Neuropathologica|March 4, 2010
The neuropathology of autism: defects of neurogenesis and neuronal migration, and dysplastic changesJerzy Wegiel, Izabela Kuchna, Krzysztof Nowicki, et al.
Biorxiv : the Preprint Server for Biology|October 10, 2024
A repository of Ogden syndrome patient derived iPSC lines and isogenic pairs by X-chromosome screening and genome-editingJosephine Wesely, Tom Rusielewicz, Yu-Ren Chen, et al.
Journal of Neuropathology and Experimental Neurology|April 11, 2012
Differences between the pattern of developmental abnormalities in autism associated with duplications 15q11.2-q13 and idiopathic autismJerzy Wegiel, N Carolyn Schanen, Edwin H Cook, et al.
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