Detalhe da pesquisa
1.
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Brain
; 145(9): 3095-3107, 2022 09 14.
Artigo
Inglês
| MEDLINE | ID: mdl-35718349
2.
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
Hum Genet
; 139(4): 513-519, 2020 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-31960134
3.
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Acta Neuropathol
; 139(3): 415-442, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31820119
4.
PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
Brain
; 142(3): 542-559, 2019 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30668673
5.
Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Clin Genet
; 94(6): 495-501, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30125339
6.
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Brain
; 140(3): 547-554, 2017 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28052917
7.
Missense mutations in SLC25A1 are associated with congenital myasthenic syndrome type 23.
Clin Genet
; 97(4): 666-667, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-31808147
8.
Variability of non-lethal Fowler syndrome phenotype associated with FLVCR2 variants.
Clin Genet
; 98(5): 520-521, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32901920
9.
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy.
Eur J Hum Genet
; 32(2): 243-246, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37985816
10.
Revisiting Exome Data Identified Missed Splice Site Variant of the Asparagine Synthetase ( ASNS ) Gene.
J Pediatr Genet
; 13(1): 1-5, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38567172
11.
Pediatric Migraines: A Comprehensive Review and Perspectives on Diagnosis and Treatment.
Oman Med J
; 38(3): e499, 2023 May.
Artigo
Inglês
| MEDLINE | ID: mdl-37342627
12.
Assessment of quality of life in children with epilepsy in Oman.
J Patient Rep Outcomes
; 7(1): 9, 2023 02 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36729202
13.
Tuberous Sclerosis Complex with Renal Stones and Distal Renal Tubular Acidosis: Case Report and Literature Review.
Oman Med J
; 38(4): e535, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37593526
14.
Case report: Cyclosporine A-induced extrapyramidal syndrome following hematopoietic stem cell transplantation.
Front Neurol
; 14: 1140732, 2023.
Artigo
Inglês
| MEDLINE | ID: mdl-37139067
15.
Delayed myelopathy in a child following organic phosphate poisoning.
BMJ Case Rep
; 16(10)2023 Oct 24.
Artigo
Inglês
| MEDLINE | ID: mdl-37879708
16.
Guillain-Barré Syndrome Associated with SARS-CoV-2 in Two Pediatric Patients.
Sultan Qaboos Univ Med J
; 23(3): 400-404, 2023 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-37655082
17.
Autosomal Recessive NOTCH3-Related Leukodystrophy in Two Siblings and Review of the Literature.
Pediatr Neurol
; 148: 73-80, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-37688971
18.
N-Methyl-D-Aspartate Receptor Encephalitis, Post Herpes Encephalitis in Two Pediatric Cases.
Oman Med J
; 38(6): e578, 2023 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-38264516
19.
Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
Orphanet J Rare Dis
; 18(1): 344, 2023 Nov 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37924129
20.
Childhood Absence Epilepsy Associated With Concomitant Centrotemporal Spikes.
Cureus
; 14(8): e28489, 2022 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-36176877