Detalhe da pesquisa
1.
JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency.
N Engl J Med
; 382(3): 256-265, 2020 01 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-31940699
2.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
3.
Pattern and etiology of early childhood epilepsy: An Experience at a tertiary care University Center.
Neurosciences (Riyadh)
; 27(4): 244-250, 2022 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-36252977
4.
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiency.
Clin Genet
; 99(1): 99-110, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32888189
5.
Remote interviews for medical residency selection during the initial COVID-19 crisis: a national survey.
BMC Med Educ
; 21(1): 462, 2021 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34461872
6.
Neurodevelopmental and epilepsy outcomes of patients with infantile spasms treated in a tertiary care center.
Neurosciences (Riyadh)
; 26(1): 21-25, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33530039
7.
Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.
Am J Hum Genet
; 100(6): 969-977, 2017 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28575651
8.
Clinical spectrum of neurofibromatosis type 1 among children in a tertiary care center.
Neurosciences (Riyadh)
; 25(5): 375-379, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33459286
9.
Evaluation of adherence to pediatric status epilepticus management guidelines in Saudi Arabia.
Neurosciences (Riyadh)
; 25(3): 182-187, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32683397
10.
Predicting future handedness and hemispheric dominance during infancy by analyzing sleep spindles.
Neurosciences (Riyadh)
; 25(3): 188-192, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32683398
11.
Genomic and phenotypic delineation of congenital microcephaly.
Genet Med
; 21(3): 545-552, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30214071
12.
Hypokalemic periodic paralysis due to CACNA1S gene mutation.
Neurosciences (Riyadh)
; 24(3): 225-230, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31380823
13.
Effect of new modalities of treatment on physicians management plan for patients with spinal muscular atrophy.
Neurosciences (Riyadh)
; 24(1): 16-21, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30842395
14.
Pediatric intracranial hypertension. Experience from 2 Tertiary Centers.
Neurosciences (Riyadh)
; 24(4): 257-263, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31872803
15.
GWAS signals revisited using human knockouts.
Genet Med
; 20(1): 64-68, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640246
16.
Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(4): 107647, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37453860
17.
Assessment of physicians knowledge and attitudes in the management of febrile seizures.
Neurosciences (Riyadh)
; 23(4): 314-319, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-30351289
18.
Respiratory support attitudes among pediatric intensive care staff for spinal muscular atrophy patients in Saudi Arabia.
Neurosciences (Riyadh)
; 23(1): 62-65, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29455226
19.
Childhood epilepsies: What should a pediatrician know?
Neurosciences (Riyadh)
; 22(1): 14-19, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28064325
20.
ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita.
Hum Genet
; 134(8): 815-22, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25957586