Detalhe da pesquisa
1.
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Am J Hum Genet;
111(5): 996, 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38701747
2.
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia.
Mov Disord;
39(6): 983-995, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581205
3.
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
Genome Med;
15(1): 114, 2023 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38098057
4.
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
Brain Commun;
5(5): fcad222, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794925
5.
Genetic association analysis of 77,539 genomes reveals rare disease etiologies.
Nat Med;
29(3): 679-688, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36928819
6.
COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience.
Eur J Med Genet;
65(11): 104602, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36049607
7.
The morbid genome of ciliopathies: an update.
Genet Med;
24(4): 966, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35394428
8.
Emergency management of critically ill adult patients with inherited metabolic disorders.
Am J Emerg Med;
55: 138-142, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35313229
9.
Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population.
Pulm Circ;
11(3): 20458940211032057, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34377436
10.
Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations.
Mol Syndromol;
12(3): 133-140, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34177428
11.
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
Am J Med Genet A;
185(8): 2455-2463, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33963797
12.
Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype.
Clin Genet;
99(5): 724-731, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33506509
13.
Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.
Genes (Basel);
11(12)2020 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33316915
14.
Recessive, Deleterious Variants in SMG8 Expand the Role of Nonsense-Mediated Decay in Developmental Disorders in Humans.
Am J Hum Genet;
107(6): 1178-1185, 2020 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33242396
15.
The morbid genome of ciliopathies: an update.
Genet Med;
22(6): 1051-1060, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32055034
16.
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Nat Commun;
11(1): 595, 2020 01 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32001716
17.
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
Am J Med Genet B Neuropsychiatr Genet;
183(3): 172-180, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31854501
18.
Inherited Metabolic Disorders in Adults: A view from Saudi Arabia.
Eur J Med Genet;
62(11): 103562, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31610876
19.
An atypical pulmonary fibrosis is associated with co-inheritance of mutations in the calcium binding protein genes S100A3 and S100A13.
Eur Respir J;
54(1)2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31073086
20.
Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.
Mol Genet Metab Rep;
18: 22-29, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30705822