Results 241 to 250 of about 128,632 (290)

CAPRIN1 (Cell Cycle-Associated Protein 1)-Related Neurodevelopmental Disorder: A Novel Mutation With Ataxia. [PDF]

Cureus
Civan RA, Kottmeier J, Sidlow R.
europepmc   +1 more source

De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder. [PDF]

Eur J Hum Genet
Jost C, Busa T, Wegner D, Shinawi M, Schaefer E, Piton A, Schluth-Bolard C, Charles P, Keren B, Mayerhanser K, Brunet T, Schatz U, Neil JE, Walsh CA, Sisco K, J Paul A, Undiagnosed Diseases Network, Lee C, Dykzeul N, Bonner D, Bernstein JA, Sutcliffe E, Wentzensen IM, Froehlich C, Liebler K, Galvin Parton P, Weiss-Burns J, Sagnol C, Delanne J, Racine C, Thauvin-Robinet C, Safraou H, Tran Mau-Them F, Duffourd Y, Bruel AL, Faivre L.   +35 more
europepmc   +1 more source

Delta Power in SLC6A1-Related Neurodevelopmental Disorder: Operationalizing Quantitative EEG Metrics for Biomarker Development. [PDF]

Neurol Int
Dahshi H, Varnet M, Goodspeed K, Tiller J, Armstrong D, Sirsi D.   +5 more
europepmc   +1 more source

N. Paul Rosman, M.D. (1934–2026)

Annals of the Child Neurology Society, EarlyView.
Alcy Torres, Laurie Douglass, Phillip L. Pearl, Karl Kuban   +3 more
wiley   +1 more source

Homozygous Deletion of the Epigenetic Regulator <i>PHF20</i> in Individuals With Neurodevelopmental Disorder. [PDF]

Hum Mutat
Dagan SY, Xuan H, Rips J, Paz-Ebstein E, Baer T, Gross S, Frumkin A, Shi X, Harel T.   +8 more
europepmc   +1 more source

Meet the Editorial Team. An interview with Angelo Iulianella, Assistant Editor, Dalhousie University Faculty of Medicine, Canada

Developmental Dynamics, EarlyView.
Paul Trevorrow, Angelo Iulianella
wiley   +1 more source

Neurodevelopmental disorder-causing GRIN1 Y647S variant alters red blood cell physiology in mice. [PDF]

Physiol Rep
Okafor SC, Horsfall W, Finnie PSB, Holicka C, Wen T, Khatir B, Loriamini M, Salahpour A, Golovin K, Branch DR, Scott GR, Edgar LJ, Kalev-Zylinska ML, Ramsey AJ.   +13 more
europepmc   +1 more source