Results 141 to 150 of about 24,501 (230)

GRIN2B-related neurodevelopmental disorders: genotype-phenotype correlations and therapeutic implications. [PDF]

Orphanet J Rare Dis
Xie C, Kessi M, Liu F, He F, Peng J.
europepmc   +1 more source

Global developmental delay and focal seizures in individuals with de novo truncating MACF1 variants. [PDF]

Hum Genomics
Xi J, Deng F, Liang M, Ding Y, Li X, Gu Z, Lin Z, Liu Z, Li X.   +8 more
europepmc   +1 more source

KCC2 activation during postnatal development alleviates long-term deficits in CDKL5-deficient mice. [PDF]

Exp Mol Med
Arshad MN, Bope C, Cho N, Dengler JS, Ng SFJ, Smalley JL, Nishi T, Zhong Z, Moss SJ, Davies PA.   +9 more
europepmc   +1 more source

A novel <i>de novo ATP2B1</i> variant causes autosomal dominant intellectual developmental disorder 66 by disrupting calcium homeostasis via impaired membrane trafficking. [PDF]

Exp Biol Med (Maywood)
Zang H, Yang X, Liu Y, Ma C, Yang D.
europepmc   +1 more source

Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing. [PDF]

Genes (Basel)
Sunnetci-Akkoyunlu D, Kara B, Ozer T, Deniz A, Sakarya-Gunes A, Isik EB, Dogruoglu B, Ilkay Z, Yilmaz M, Sahin S, Eren-Keskin S, Cine N, Savli H.   +12 more
europepmc   +1 more source

Autism Spectrum Disorder in the Genomic Era: A Comprehensive Review of Etiology, Precision Diagnostics, Clinical Outcomes, and Emerging Gene-Editing Therapies. [PDF]

Neuropsychiatr Dis Treat
Xiong N, Yu Z.
europepmc   +1 more source

Functional Characterization of a De Novo <i>SCN2A</i> Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy. [PDF]

Neurol Genet
Corradi A, Riva A, Sterlini B, Morinelli L, Ludovico A, Madia F, Striano P, Albini M, Vitale P, Pusch M, Lombardo G, Elia M, Chatron N, Lesca G, Zara F, Falsaperla R, Ferrera L.   +16 more
europepmc   +1 more source

The autistic syndrome : proceedings of the Sandoz Working Party on Definition, Nomenclature, and Classification : held in the University of Queensland, August 1969 [PDF]

, 1971
Clancy, Helen, Rendle-Short, John, 1919-, Sandoz Working Party on Definition, Nomenclature and Classification (1969 : University of Queensland)   +2 more
core  

Autism Spectrum Disorder in a Child with Floating-Harbor Syndrome: A Case Report. [PDF]

Noro Psikiyatr Ars
Kaan H, Coskun M.
europepmc   +1 more source

Catatonia and autism spectrum disorder: A common comorbid syndrome or a core feature? [PDF]

World J Psychiatry
Mahgoub Y, Hamlin D, Kindt H, Francis A.
europepmc   +1 more source