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.
Transfusion of blood components in pediatric age groups: an evidence-based clinical practice guideline adapted for the use in Egypt using 'Adapted ADAPTE'.
Ann Hematol
; 103(4): 1373-1388, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38388746
3.
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
4.
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
5.
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
6.
Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy.
Brain
; 143(5): 1447-1461, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32282878
7.
Quality of care provided to children with cerebral palsy, Alexandria, Egypt.
East Mediterr Health J
; 24(6): 522-531, 2018 Jul 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-30079947
8.
Bisphenol A exposure assessment from olive oil consumption.
Environ Monit Assess
; 189(7): 341, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28623573
9.
Mutations in LAMB1 cause cobblestone brain malformation without muscular or ocular abnormalities.
Am J Hum Genet
; 92(3): 468-74, 2013 Mar 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23472759
10.
Megalencephalic leukoencephalopathy with cysts in twelve Egyptian patients: novel mutations in MLC1 and HEPACAM and a founder effect.
Metab Brain Dis
; 31(5): 1171-9, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27389245
11.
Oral health status and behaviours of children with Autism Spectrum Disorder: a case-control study.
Int J Paediatr Dent
; 24(4): 314-23, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24750459
12.
Egyptian Pediatric Guidelines for the Management of Children with Isolated Thrombocytopenia Using the Adapted ADAPTE Methodology-A Limited-Resource Country Perspective.
Children (Basel)
; 11(4)2024 Apr 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38671669
13.
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
14.
Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature.
Eur J Med Genet
; 66(3): 104715, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36708876
15.
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
16.
Clinical Outcome After Replacement of Distal Femur/Proximal Tibia in a Heterogeneous Patient Cohort: Function Following Tumour, Trauma, and Loosening.
In Vivo
; 35(4): 2275-2281, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34182506
17.
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
18.
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
19.
The 'Adapted ADAPTE': an approach to improve utilization of the ADAPTE guideline adaptation resource toolkit in the Alexandria Center for Evidence-Based Clinical Practice Guidelines.
J Eval Clin Pract
; 21(6): 1095-106, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26662728
20.
Fish Oil Intake and Seizure Control in Children with Medically Resistant Epilepsy.
N Am J Med Sci
; 7(7): 317-21, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258079