Detalhe da pesquisa
1.
Deficiency of acyl-CoA synthetase 5 is associated with a severe and treatable failure to thrive of neonatal onset.
Clin Genet
; 99(3): 376-383, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33191500
2.
The experience of Preimplantation Genetic Testing (PGT) among Muslim couples in Oman in the Middle East.
J Genet Couns
; 30(1): 121-131, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32578356
3.
Inborn errors of metabolism in a cohort of pregnancies with non-immune hydrops fetalis: a single center experience.
J Perinat Med
; 46(9): 968-974, 2018 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28822227
4.
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis.
Eur J Med Genet
; 65(1): 104376, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34737117
5.
The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.
Sci Rep
; 12(1): 18862, 2022 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36344539
6.
Uptake of prenatal genetic diagnosis and termination of pregnancy by Omani Muslim families at risk of genetic disorders: experience over a 9-year period.
J Community Genet
; 13(3): 303-311, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35179721
7.
Occurrence of Optic Neuritis and Cervical Cord Schwannoma with Charcot-Marie-Tooth Type 4B1 Disease.
Oman Med J
; 31(3): 227-30, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27162595
8.
Trinucleotide repeat analysis of spinocerebellar ataxia patients in Oman.
Neurosciences (Riyadh)
; 10(1): 61-3, 2005 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22473187
9.
Identification of prognosis markers in pediatric high-risk acute lymphoblastic leukemia.
Pediatr Hematol Oncol
; 22(7): 629-43, 2005.
Artigo
em Inglês
| MEDLINE | ID: mdl-16166056