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.
Further phenotypic delineation of Alazami syndrome.
Am J Med Genet A
; 188(8): 2485-2490, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35567578
3.
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Clin Genet
; 94(6): 495-501, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30125339
4.
Homozygous single base deletion in TUSC3 causes intellectual disability with developmental delay in an Omani family.
Am J Med Genet A
; 170(7): 1826-31, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27148795
5.
Consanguinity, endogamy and inborn errors of metabolism in Oman: a cross-sectional study.
Hum Hered
; 77(1-4): 183-8, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25060282
6.
Applying whole exome sequencing in a consanguineous population with autism spectrum disorder.
Int J Dev Disabil
; 69(2): 190-200, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37025335
7.
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
Orphanet J Rare Dis
; 18(1): 344, 2023 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37924129
8.
A SWOT analysis of parent-mediated intervention for children with autism spectrum disorder: Oman as a Regional Model.
Int J Dev Disabil
; 68(5): 773-780, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36210904
9.
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
10.
Parental Age and the Risk of Autism Spectrum Disorder in Oman: A case-control study.
Sultan Qaboos Univ Med J
; 21(3): 465-471, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522414
11.
Intellectual Profile of Children with Autism Spectrum Disorder: Identification of verbal and nonverbal subscales predicting intelligence quotient.
Sultan Qaboos Univ Med J
; 21(3): 386-393, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522403
12.
LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss.
Eur J Med Genet
; 62(12): 103592, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30476627
13.
Enhancing Child Development in Oman: Applying global agenda into local context.
Sultan Qaboos Univ Med J
; 23(2): 143-147, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37377824
14.
Coexistence of Autism Spectrum Disorders Among Three Children with Tuberous Sclerosis Complex: Case reports and review of literature.
Sultan Qaboos Univ Med J
; 16(4): e520-e524, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28003905
15.
Comorbidity of Learning Disorders and Attention Deficit Hyperactivity Disorder in a Sample of Omani Schoolchildren.
Sultan Qaboos Univ Med J
; 15(4): e528-33, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26629382
16.
De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism.
Sultan Qaboos Univ Med J
; 15(3): e415-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26357560
17.
Incidence and Risk Factors of Parenteral Nutrition-Associated Cholestasis in Omani Neonates: Single centre experience.
Sultan Qaboos Univ Med J
; 15(2): e234-40, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26052457
18.
Diagnostic Yield of Chromosomal Microarray Analysis in a Cohort of Patients with Autism Spectrum Disorders from a Highly Consanguineous Population.
J Autism Dev Disord
; 45(8): 2323-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25703031
19.
A Turning Point for Paediatric Developmental Services in Oman: Establishment of a national autism screening programme.
Sultan Qaboos Univ Med J
; 17(1): e125-e126, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28417045
20.
Learning Disabilities: Opportunities and challenges in Oman.
Sultan Qaboos Univ Med J
; 16(2): e129-31, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27226902