Detalhe da pesquisa
1.
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
Hum Mutat
; 39(12): 1788-1802, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30118150
2.
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.
Am J Med Genet A
; 176(12): 2850-2857, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345601
3.
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
Am J Hum Genet
; 93(4): 721-6, 2013 Oct 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24075186
4.
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Mol Genet Metab
; 118(3): 206-213, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27198631
5.
Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.
Mol Genet Metab
; 114(2): 178-85, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25284089
6.
Variation in DNAH1 may contribute to primary ciliary dyskinesia.
BMC Med Genet
; 16: 14, 2015 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-25927852
7.
Corrigendum to "Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases" [Mol. Genet. Metab. 118 (2016) 206-213].
Mol Genet Metab
; 125(4): 360, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29129654
8.
Mutation of HES7 in a large extended family with spondylocostal dysostosis and dextrocardia with situs inversus.
Am J Med Genet A
; 161A(9): 2244-9, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23897666
9.
The development of genetic counseling services and training program in Saudi Arabia.
J Genet Couns
; 22(6): 835-8, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24037027
10.
Reliable prenatal diagnosis of Canavan disease by measuring N-acetylaspartate in amniotic fluid using liquid chromatography tandem mass spectrometry.
Prenat Diagn
; 29(5): 477-80, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19235826
11.
Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.
Genet Med
; 10(9): 675-84, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18978679
12.
Utility of whole exome sequencing in the diagnosis of Usher syndrome: Report of novel compound heterozygous MYO7A mutations.
Int J Pediatr Otorhinolaryngol
; 108: 17-21, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29605349
13.
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Genes (Basel)
; 9(5)2018 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-29789446
14.
Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease.
Mol Genet Metab Rep
; 11: 17-23, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28417071
15.
Mutations underlying 3-hydroxy-3-methylglutaryl CoA lyase deficiency in the Saudi population.
BMC Med Genet
; 7: 86, 2006 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-17173698
16.
Hemophagocytic lymphohistiocytosis: A rare cause of recurrent encephalopathy.
Intractable Rare Dis Res
; 5(3): 227-30, 2016 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27672548
17.
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
JIMD Rep
; 29: 39-46, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26615597
18.
Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.
Ann Saudi Med
; 34(2): 107-14, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24894778
19.
Identification of Gaucher disease mutations found in Saudi Arabia.
Blood Cells Mol Dis
; 41(2): 200-1, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18586535
20.
A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV.
Gene
; 526(2): 464-6, 2013 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23685283