Detalhe da pesquisa
1.
Constitutional Mismatch Repair Deficiency Syndromes, a Neurofibromatosis 1 Mimicker That Hinders Timely Management.
J Pediatr Hematol Oncol
; 45(5): e613-e620, 2023 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36897649
2.
SLC gene mutations and pediatric neurological disorders: diverse clinical phenotypes in a Saudi Arabian population.
Hum Genet
; 141(1): 81-99, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34797406
3.
Loss-of-Function Mutations in KIF15 Underlying a Braddock-Carey Genocopy.
Hum Mutat
; 38(5): 507-510, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28150392
4.
Complete resolution of epileptic spasms with vigabatrin in a patient with 3-methylglutaconic aciduria caused by TIMM50 gene mutation.
Clin Genet
; 98(1): 102-103, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369862
5.
Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.
Pediatr Neurol
; 155: 149-155, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38653183
6.
Continuous Spikes and Waves During Sleep (CSWS), Severe Epileptic Encephalopathy, and Choreoathetosis due to Mutations in FRRS1L.
Clin EEG Neurosci
; 54(5): 526-533, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35815844
7.
A missense mutation in ANKRD26 segregates with thrombocytopenia.
Blood
; 122(3): 461-2, 2013 Jul 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-23869080
8.
Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10.
Brain Dev
; 41(8): 706-715, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30952461
9.
Screening for Lynch syndrome in young Saudi colorectal cancer patients using microsatellite instability testing and next generation sequencing.
Fam Cancer
; 17(2): 197-203, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28643016
10.
Corrigendum to "Epilepsy in patients with EAST syndrome caused by mutation in the KCNJ10" [Brain Dev 2019].
Brain Dev
; 41(8): 716, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31331637
11.
Benign familial and non-familial infantile seizures (Fukuyama-Watanabe-Vigevano syndrome): a study of 14 cases from Saudi Arabia.
Brain Dev
; 32(5): 378-84, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19464832