Detalhe da pesquisa
1.
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Am J Hum Genet
; 104(6): 1182-1201, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31130284
2.
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
3.
Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia.
Am J Med Genet A
; 176(3): 687-691, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29330964
4.
Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.
Am J Hum Genet
; 105(4): 879, 2019 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585110
5.
Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature.
Front Pediatr
; 10: 1051534, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36923948
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.
In search of triallelism in Bardet-Biedl syndrome.
Eur J Hum Genet
; 20(4): 420-7, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22353939