Detalhe da pesquisa
1.
AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.
Cell
; 154(3): 505-17, 2013 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23911318
2.
Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.
Genet Med
; 25(2): 100323, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36401616
3.
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
Am J Med Genet A
; 188(10): 2932-2940, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35861185
4.
Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease.
J Hum Genet
; 66(7): 689-695, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33500540
5.
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Genet Med
; 22(12): 2071-2080, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32741967
6.
MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
Hum Mutat
; 39(4): 461-470, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29282788
7.
Mutations in the NHEJ component XRCC4 cause primordial dwarfism.
Am J Hum Genet
; 96(3): 412-24, 2015 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-25728776
8.
FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance.
Mol Genet Metab
; 125(3): 281-291, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30177229
9.
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
Hum Mutat
; 38(12): 1774-1785, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940898
10.
Molecular and clinical spectra of FBXL4 deficiency.
Hum Mutat
; 38(12): 1649-1659, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28940506
11.
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
Am J Hum Genet
; 93(3): 471-81, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23993193
12.
ADAT3-related intellectual disability: Further delineation of the phenotype.
Am J Med Genet A
; 170A(5): 1142-7, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26842963
13.
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
J Med Genet
; 52(3): 186-94, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25539947
14.
Novel STAMBP mutation and additional findings in an Arabic family.
Am J Med Genet A
; 167A(4): 805-9, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25692795
15.
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
Am J Med Genet A
; 164A(6): 1565-70, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24668509
16.
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.
Pediatr Neurol
; 155: 149-155, 2024 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-38653183
17.
Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors.
JCI Insight
; 8(22)2023 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37796616
18.
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.
Nat Commun
; 14(1): 4109, 2023 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37433783
19.
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.
JCI Insight
; 7(10)2022 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35603789
20.
Author Correction: NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease.
Nat Commun
; 11(1): 5022, 2020 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33004807