Detalhe da pesquisa
1.
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Genet Med
; 23(9): 1715-1725, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34054129
2.
Autozygome and high throughput confirmation of disease genes candidacy.
Genet Med
; 21(3): 736-742, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30237576
3.
Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
J Neurophysiol
; 118(4): 2402-2411, 2017 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28747464
4.
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Hum Genet
; 136(8): 921-939, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28600779
5.
Severe hypoglycemic seizures in a child receiving 6-mercaptopurine.
J Pediatr Hematol Oncol
; 33(2): e75-6, 2011 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21343747
6.
Phenotypic Variability of MEGF10 Variants Causing Congenital Myopathy: Report of Two Unrelated Patients from a Highly Consanguineous Population.
Genes (Basel)
; 12(11)2021 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828389
7.
Tuberous Sclerosis Complex: Clinical Spectrum and Epilepsy: A Retrospective Chart Review Study.
Transl Neurosci
; 9: 154-160, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30479846
8.
Acute disseminated encephalomyelitis and thrombocytopenia following Epstein-Barr virus infection.
J Coll Physicians Surg Pak
; 24 Suppl 3: S216-8, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25518779
9.
Anti-N-methyl-D-aspartate (NMDA) receptor encephalitis in a young Lebanese girl.
J Child Neurol
; 28(10): 1222-5, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22992990
10.
Paroxysmal autonomic instability with dystonia after pneumococcal meningoencephalitis.
Case Rep Med
; 2012: 965932, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23093976
11.
Cardiac involvement in nonketotic hyperglycinemia.
J Child Neurol
; 26(8): 970-3, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21527396
12.
Severe cerebral vaso-occlusive disease in macrophage activation syndrome.
Pediatr Neurol
; 42(4): 283-6, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20304334
13.
First case of neurocysticercosis in Saudi Arabia.
J Trop Pediatr
; 49(1): 58-60, 2003 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-12630724