Detalhe da pesquisa
1.
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain
; 147(1): 311-324, 2024 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37713627
2.
Genotype-phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder.
Hum Genet
; 142(7): 909-925, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37183190
3.
Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals.
Genet Med
; 25(1): 90-102, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36318270
4.
Polyneuritis cranialis as a unique initial presentation of juvenile systemic lupus erythematosus: Case report.
Lupus
; 32(14): 1686-1688, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37946319
5.
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.
Am J Med Genet A
; 188(9): 2652-2665, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35670379
6.
Clinical, biochemical, neuroradiological and molecular characterization of Egyptian patients with glutaric acidemia type 1.
Metab Brain Dis
; 34(4): 1231-1241, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31062211
7.
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.
Mov Disord Clin Pract
; 9(2): 218-228, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-35141356
8.
An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients.
Eur J Hum Genet
; 30(9): 1029-1035, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35614200
9.
A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.
Eur J Hum Genet
; 29(2): 271-279, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32901138
10.
Lead exposure and its association with pubertal development in school-age Egyptian children: pilot study.
Pediatr Int
; 52(1): 89-93, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19496973
11.
Autoantibody to heterogeneous nuclear ribonucleoprotein-A2 (RA33) in juvenile idiopathic arthritis: clinical significance.
Pediatr Int
; 51(2): 188-92, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19405913
12.
Reproductive hormonal changes and catamenial pattern in adolescent females with epilepsy.
Epilepsia
; 49(9): 1619-26, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18435756
13.
Serum concentrations of CCR4 ligands in relation to clinical severity of atopic dermatitis in Egyptian children.
Pediatr Allergy Immunol
; 19(8): 756-62, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18435706
14.
Plasma interleukin-1beta levels in children with febrile seizures.
J Child Neurol
; 22(6): 689-92, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17641253
15.
Role of plasma amino acids and urinary organic acids in diagnosis of mitochondrial diseases in children.
Pediatr Neurol
; 51(6): 820-5, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25456303
16.
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.
Saudi J Gastroenterol
; 18(4): 285-9, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22824774
17.
Inherited thrombophilia in pediatric ischemic stroke: an Egyptian study.
Pediatr Neurol
; 47(2): 114-8, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22759687
18.
Infantile spinal muscular atrophy with respiratory distress type 1: a case report.
J Child Neurol
; 25(6): 764-9, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20197267
19.
Anthropometry and body composition analysis in children with cerebral palsy.
Clin Nutr
; 29(4): 477-81, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19926178
20.
Growth hormone levels in children and adolescents with epilepsy.
Eur J Paediatr Neurol
; 14(6): 508-12, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20227898