Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.
Am J Hum Genet
; 109(8): 1421-1435, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35830857
2.
NAIP Gene Deletion and SMN2 Copy Number as Molecular Tools in Predicting the Severity of Spinal Muscular Atrophy.
Biochem Genet
; 2024 Feb 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38388850
3.
Psychometric properties of an Arabic translation of the quality of life in childhood epilepsy questionnaire (QOLCE-55).
Epilepsy Behav
; 129: 108637, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35272207
4.
Evaluation of salivary parameters and Streptococcus' Mutans count in children with cerebral palsy in Egypt: a case control study.
BMC Oral Health
; 22(1): 411, 2022 09 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36123671
5.
Adapting global evidence-based practice guidelines to the Egyptian healthcare context: the Egyptian Pediatric Clinical Practice Guidelines Committee (EPG) initiative.
Bull Natl Res Cent
; 47(1): 88, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37334162
6.
Adapted Evidence-Based Clinical Practice Guidelines for Diagnosis and Treatment of Epilepsies in Children: A Tertiary Children's Hospital Update.
Pediatr Neurol
; 141: 87-92, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36774685
7.
Corrigendum to "Adapted Evidence-Based Clinical Practice Guidelines for Diagnosis and Treatment of Epilepsies in Children: A Tertiary Children's Hospital Update" Pediatric Neurology 141C (2023) (87-92).
Pediatr Neurol
; 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-38388333
8.
Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy.
Nat Commun
; 10(1): 707, 2019 02 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30755602