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Nature Genetics|October 5, 2010
Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architectureTimothy W Yu, Ganeshwaran H Mochida, David J Tischfield, et al.
Biorxiv : the Preprint Server for Biology|March 17, 2025
Recurrent patterns of widespread neuronal genomic damage shared by major neurodegenerative disordersZinan Zhou, Lovelace J Luquette, Guanlan Dong, et al.
Diabetologia|October 8, 2020
Type 1 diabetes can present before the age of 6 months and is characterised by autoimmunity and rapid loss of beta cellsMatthew B Johnson, Kashyap A Patel, Elisa De Franco, et al.
Medrxiv : the Preprint Server for Health Sciences|April 16, 2025
Complete Loss of PAX4 causes Transient Neonatal Diabetes in HumansJames Russ-Silsby, Yunkyeong Lee, Varsha Rajesh, et al.
Molecular Metabolism|July 4, 2025
Complete loss of PAX4 causes transient neonatal diabetes in humansJames Russ-Silsby, Yunkyeong Lee, Varsha Rajesh, et al.
Neurology. Genetics|December 27, 2023
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived ElectrophysiologyH Westley Phillips, Alissa M D'Gama, Yilan Wang, et al.
Human Molecular Genetics|June 24, 2005
The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle proteinNatalay Kouprina, Adam Pavlicek, N Keith Collins, et al.
Medrxiv : the Preprint Server for Health Sciences|October 4, 2023
Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder riskTaehwan Shin, Janet H T Song, Michael Kosicki, et al.
Cell Reports|December 28, 2017
Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical DysplasiasAlissa M D'Gama, Mollie B Woodworth, Amer A Hossain, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|November 14, 2018
PSMD12 haploinsufficiency in a neurodevelopmental disorder with autistic featuresRaida Khalil, Connor Kenny, R Sean Hill, et al.
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