Detalhe da pesquisa
1.
THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder.
Am J Hum Genet
; 109(4): 587-600, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35196516
2.
Mutations in TP73 cause impaired mucociliary clearance and lissencephaly.
Am J Hum Genet
; 108(7): 1318-1329, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34077761
3.
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Clin Genet
; 105(6): 620-629, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38356149
4.
KIF26A is mutated in the syndrome of congenital hydrocephalus with megacolon.
Hum Genet
; 142(3): 399-405, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36564622
5.
Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
Eur J Pediatr
; 182(6): 2535-2545, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928758
6.
Mitochondrial DNA maintenance defects: potential therapeutic strategies.
Mol Genet Metab
; 137(1-2): 40-48, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35914366
7.
Disorders of histone methylation: Molecular basis and clinical syndromes.
Clin Genet
; 102(3): 169-181, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35713103
8.
A homozygous frame-shift variant in PROSER1 is associated with developmental delay, hypotonia, genitourinary malformations, and distinctive facial features.
Clin Genet
; 101(5-6): 565-570, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35229282
9.
El-Hattab-Alkuraya syndrome caused by biallelic WDR45B pathogenic variants: Further delineation of the phenotype and genotype.
Clin Genet
; 101(5-6): 530-540, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35322404
10.
Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.
Am J Hum Genet
; 100(1): 91-104, 2017 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27939640
11.
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.
Genet Med
; 22(10): 1598-1605, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32461667
12.
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
13.
Clinical trials in mitochondrial disorders, an update.
Mol Genet Metab
; 131(1-2): 1-13, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33129691
14.
Further delineation of METTL23-associated intellectual disability.
Am J Med Genet A
; 182(4): 785-791, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32067349
15.
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
Hum Mutat
; 40(7): 908-925, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30817854
16.
Carnitine Inborn Errors of Metabolism.
Molecules
; 24(18)2019 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31500110
17.
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
18.
Mitochondrial dynamics: Biological roles, molecular machinery, and related diseases.
Mol Genet Metab
; 125(4): 315-321, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30361041
19.
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
20.
Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review.
J Pediatr
; 202: 315-319.e2, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30057141