Detalhe da pesquisa
1.
The prevalence and phenotypic range associated with biallelic PKDCC variants.
Clin Genet
; 104(1): 121-126, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36896672
2.
TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities.
Am J Hum Genet
; 105(6): 1126-1147, 2019 12 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31735293
3.
Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.
J Inherit Metab Dis
; 44(4): 987-1000, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-33583022
4.
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.
BMC Med Genet
; 20(1): 119, 2019 07 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31272422
5.
A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
Neurosciences (Riyadh)
; 23(2): 162-164, 2018 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-29664460
6.
Positional mapping of PRKD1, NRP1 and PRDM1 as novel candidate disease genes in truncus arteriosus.
J Med Genet
; 52(5): 322-9, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25713110
7.
Munchausen syndrome by proxy mimicking as Gaucher disease.
Eur J Pediatr
; 169(8): 1029-32, 2010 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-20039062
8.
The landscape of early infantile epileptic encephalopathy in a consanguineous population.
Seizure
; 69: 154-172, 2019 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-31054490
9.
PRUNE Syndrome Is a New Neurodevelopmental Disorder: Report and Review.
Child Neurol Open
; 5: 2329048X17752237, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-29372174
10.
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
Inglês
| MEDLINE | ID: mdl-28438721
11.
Characterizing the morbid genome of ciliopathies.
Genome Biol
; 17(1): 242, 2016 11 28.
Artigo
Inglês
| MEDLINE | ID: mdl-27894351
12.
Vici syndrome associated with unilateral lung hypoplasia and myopathy.
Am J Med Genet A
; 152A(7): 1849-53, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20583151
13.
The fragile site WWOX gene and the developing brain.
Exp Biol Med (Maywood)
; 240(3): 400-2, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25416187
14.
Patterns of folic acid use in pregnant Saudi women and prevalence of neural tube defects - Results from a nested case-control study.
Prev Med Rep
; 2: 572-6, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26844119
15.
A wide clinical phenotype spectrum in patients with ATP1A2 mutations.
J Child Neurol
; 29(2): 265-8, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24097848
16.
In search of triallelism in Bardet-Biedl syndrome.
Eur J Hum Genet
; 20(4): 420-7, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-22353939