Detalhe da pesquisa
1.
Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.
Am J Med Genet A
; 194(1): 59-63, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37698259
2.
A novel homozygous SCN5A variant detected in sick sinus syndrome.
Pacing Clin Electrophysiol
; 44(2): 380-384, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32965045
3.
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.
BMC Med Genet
; 17: 3, 2016 Jan 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-26768247
4.
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
J Med Genet
; 52(3): 186-94, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25539947
5.
The phenotype of a CASQ2 mutation in a Saudi family with catecholaminergic polymorphic ventricular tachycardia.
Pacing Clin Electrophysiol
; 36(5): e140-2, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22650415
6.
Categorized Genetic Analysis in Childhood-Onset Cardiomyopathy.
Circ Genom Precis Med
; 13(5): 504-514, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32870709
7.
Phenotypic variability in a series of four pediatric patients with Andersen-Tawil syndrome: A Saudi experience.
Int J Pediatr Adolesc Med
; 6(4): 158-164, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31890843
8.
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.
Mol Genet Metab Rep
; 15: 50-54, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30023291
9.
Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.
Heart Rhythm
; 14(8): 1191-1199, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28438721
10.
Polymorphisms in RAD51 and their relation with breast cancer in Saudi females.
Onco Targets Ther
; 9: 269-77, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26834486
11.
Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.
Gene
; 513(2): 297-300, 2013 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23063737
12.
Recessively inherited severe aortic aneurysm caused by mutated EFEMP2.
Am J Cardiol
; 109(11): 1677-80, 2012 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-22440127