Detalhe da pesquisa
1.
Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining.
Hum Genomics
; 15(1): 52, 2021 08 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34380564
2.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Brain
; 144(3): 769-780, 2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33764426
3.
NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE-SITE MUTATION.
Endocr Pract
; 26(1): 72-81, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31557081
4.
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
5.
De novo truncating variants in WHSC1 recapitulate the Wolf-Hirschhorn (4p16.3 microdeletion) syndrome phenotype.
Genet Med
; 21(1): 185-188, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29892088
6.
Autozygome and high throughput confirmation of disease genes candidacy.
Genet Med
; 21(3): 736-742, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237576
7.
Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
Brain
; 141(7): 1934-1945, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29868776
8.
Replication of Type 2 diabetes-associated variants in a Saudi Arabian population.
Physiol Genomics
; 50(4): 296-297, 2018 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29451423
9.
Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci.
Int J Cancer
; 142(3): 540-546, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28960316
10.
Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease.
Hum Mol Genet
; 25(11): 2349-2359, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27005424
11.
Phenotype heterogeneity of congenital adrenal hyperplasia due to genetic mosaicism and concomitant nephrogenic diabetes insipidus in a sibling.
BMC Med Genet
; 19(1): 115, 2018 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29996815
12.
Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
Hum Genomics
; 11(1): 28, 2017 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29137650
13.
Correction to: Recessive VARS2 mutation underlies a novel syndrome with epilepsy, mental retardation, short stature, growth hormone deficiency, and hypogonadism.
Hum Genomics
; 11(1): 33, 2017 12 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29221463
14.
Identification of a novel genetic locus underlying tremor and dystonia.
Hum Genomics
; 11(1): 25, 2017 11 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29110692
15.
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
Am J Med Genet A
; 176(3): 715-721, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29383837
16.
Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer.
Int J Cancer
; 140(12): 2701-2708, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28340513
17.
Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets.
Clin Endocrinol (Oxf)
; 87(1): 103-112, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28383812
18.
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.
Hum Genomics
; 10(1): 32, 2016 Sep 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27671536
19.
Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.
Proc Natl Acad Sci U S A
; 111(50): 17953-8, 2014 Dec 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-25472840
20.
Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.
J Allergy Clin Immunol
; 137(6): 1780-1787, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26915675