Results 91 to 100 of about 1,211 (133)

NGLY1 as an Emerging Critical Modulator for Neurodevelopment and Pathogenesis in the Brain. [PDF]

Int J Mol Sci
Zhang H, Xue H, Wang YC, Liu Y.
europepmc   +1 more source

Unmasking genetic etiologies in neurodevelopmental disorders characterized by Cerebral Palsy: insights from integrative genomic approaches. [PDF]

Front Neurol
Yigit A, Akgun-Dogan O, Ozkeserli Z, Bayram Akcapınar G, Ayta S, Gencpinar P, Maras Genc H, Kutlubay B, Kara B, Sozen HG, Agaoglu NB, Ozdemir O, Bilguvar K, Ozbek U.   +13 more
europepmc   +1 more source

CLN5 : from mutation to defective protein and clinical phenotype [PDF]

, 2004
Holmberg, Ville
core  

Dynamic glycosylation remodeling in neurological disorders. [PDF]

Front Mol Neurosci
Xing D, Gong Y, Xia W, Tu H, Yuan L, Yin Y, Wang K.   +6 more
europepmc   +1 more source

Expanding carrier screening: beyond the genes, to include underrepresented ancestries. [PDF]

NPJ Genom Med
Bylstra Y, Jian PC, Lin S, Goh J, Choi C, Teo JX, Lim S, Hodgson J, Menezes M, Weng R, Amor DJ, Lim WK, Jamuar SS.   +12 more
europepmc   +1 more source

Adrenal insufficiency in inborn errors of metabolism and vice versa: Case reports and review of the literature. [PDF]

Mol Genet Metab Rep
De Preter A, Rochtus A, Witters P, Rymen D.   +3 more
europepmc   +1 more source

Development of new NGLY1 assay systems - toward developing an early screening method for NGLY1 deficiency. [PDF]

Glycobiology
Hirayama H, Fujihira H, Suzuki T.
europepmc   +1 more source

Neurogenetic Disorders with Hearing Loss: Mechanisms, Classifications, and Emerging Insights. [PDF]

Curr Neurol Neurosci Rep
Owrang D, Vona B.
europepmc   +1 more source

SARS-CoV-2 pseudoparticles preferentially infect ectoderm in human embryonic tissues. [PDF]

Front Cell Dev Biol
Song A, Talbot P.
europepmc   +1 more source

Putative role of TMEM165 in congenital cardiomyopathies. [PDF]

Front Mol Neurosci
Gonçalves PP.
europepmc   +1 more source