Detalhe da pesquisa
1.
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.
Mol Psychiatry
; 2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38418578
2.
Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield.
Genet Med
; 26(4): 101068, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193396
3.
SLC4A10 mutation causes a neurological disorder associated with impaired GABAergic transmission.
Brain
; 146(11): 4547-4561, 2023 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37459438
4.
Replicative Stress Coincides with Impaired Nuclear DNA Damage Response in COX4-1 Deficiency.
Int J Mol Sci
; 23(8)2022 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35456968
5.
Biallelic deletion in a minimal CAPN15 intron in siblings with a recognizable syndrome of congenital malformations and developmental delay.
Clin Genet
; 99(4): 577-582, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33410501
6.
Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.
Am J Med Genet A
; 185(4): 1033-1038, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33438832
7.
Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.
Am J Hum Genet
; 100(4): 676-688, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28343629
8.
Homozygous frameshift variant in NTNG2, encoding a synaptic cell adhesion molecule, in individuals with developmental delay, hypotonia, and autistic features.
Neurogenetics
; 20(4): 209-213, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31372774
9.
Organic solute transporter-ß (SLC51B) deficiency in two brothers with congenital diarrhea and features of cholestasis.
Hepatology
; 68(2): 590-598, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28898457
10.
Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.
J Med Genet
; 55(9): 599-606, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29764912
11.
Infantile neurodegenerative disorder associated with mutations in TBCD, an essential gene in the tubulin heterodimer assembly pathway.
Hum Mol Genet
; 25(21): 4635-4648, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158450
12.
Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.
J Med Genet
; 54(3): 196-201, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27694521
13.
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene.
Neurogenetics
; 18(3): 135-139, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28493104
14.
PARP10 deficiency manifests by severe developmental delay and DNA repair defect.
Neurogenetics
; 17(4): 227-232, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27624574
15.
Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination.
J Med Genet
; 52(8): 541-7, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26041762
16.
A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration.
Neurogenetics
; 16(3): 215-221, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25894286
17.
Epidemiological and microbiological characteristics of an outbreak caused by OXA-48-producing Enterobacteriaceae in a neonatal intensive care unit in Jerusalem, Israel.
J Clin Microbiol
; 51(9): 2926-30, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23804390
18.
A loss-of-function mutation in human Oxidation Resistance 1 disrupts the spatial-temporal regulation of histone arginine methylation in neurodevelopment.
Genome Biol
; 24(1): 216, 2023 09 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37773136
19.
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.
Hum Mutat
; 33(8): 1261-6, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22539336
20.
Erratum to: PARP10 deficiency manifests by severe developmental delay and DNA repair defect.
Neurogenetics
; 18(2): 119, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28190220