Detalhe da pesquisa
1.
Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans.
J Med Genet;
60(3): 294-300, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35790350
2.
Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes.
BMC Bioinformatics;
24(1): 294, 2023 Jul 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37479972
3.
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.
N Engl J Med;
382(3): 256-265, 2020 01 16.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31940699
4.
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
5.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab;
139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37348148
6.
Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.
Pediatr Nephrol;
38(6): 1801-1810, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36409364
7.
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
8.
A disorder clinically resembling cystic fibrosis caused by biallelic variants in the AGR2 gene.
J Med Genet;
59(10): 993-1001, 2022 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34952832
9.
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Genet Med;
23(8): 1551-1568, 2021 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33875846
10.
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
Clin Genet;
99(1): 99-110, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32888189
11.
Molecular autopsy by proxy in preconception counseling.
Clin Genet;
100(6): 678-691, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34406647
12.
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathy.
Clin Genet;
99(4): 513-518, 2021 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33354762
13.
Effect of common medications on the expression of SARS-CoV-2 entry receptors in liver tissue.
Arch Toxicol;
94(12): 4037-4041, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32808185
14.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab;
139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37453860
15.
Correction to: Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
Eur J Pediatr;
182(6): 2547-2548, 2023 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37140704
16.
A detailed musculoskeletal study of a fetus with anencephaly and spina bifida (craniorachischisis), and comparison with other cases of human congenital malformations.
J Anat;
230(6): 842-858, 2017 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28266009
17.
The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation.
Cardiology;
137(3): 188-192, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28441660
18.
Unusual Prominent Pulmonary Involvement in a Homozygous PRF1 Gene Variant in a Female Patient.
J Clin Immunol;
41(1): 217-220, 2021 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32986178
19.
Retraction: A Giant Porencephaly: A Rare Etiology of Pediatric Seizures.
Cureus;
16(1): r97, 2024 Jan.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38274581
20.
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.
Pediatr Neurol;
155: 149-155, 2024 Jun.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38653183