Detalhe da pesquisa
1.
Congenital leptin and leptin receptor deficiencies in nine new families: identification of six novel variants and review of literature.
Mol Genet Genomics;
298(4): 919-929, 2023 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37140700
2.
Prevalence and risk factors of disabilities among Egyptian preschool children: a community-based population study.
BMC Psychiatry;
23(1): 689, 2023 09 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37735643
3.
National screening for Egyptian children aged 1 year up to 12 years at high risk of Autism and its determinants: a step for determining what ASD surveillance needs.
BMC Psychiatry;
23(1): 471, 2023 06 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37381024
4.
Screening and determinant of suspected developmental delays among Egyptian preschool-aged children: a cross-sectional national community-based study.
BMC Pediatr;
23(1): 521, 2023 10 19.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37858055
5.
Blepharophimosis-ptosis-intellectual disability syndrome: A report of nine Egyptian patients with further expansion of phenotypic and mutational spectrum.
Am J Med Genet A;
182(12): 2857-2866, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32949109
6.
Rubinstein-Taybi syndrome in diverse populations.
Am J Med Genet A;
182(12): 2939-2950, 2020 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32985117
7.
Turner syndrome in diverse populations.
Am J Med Genet A;
182(2): 303-313, 2020 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31854143
8.
Study of C677T variant of methylene tetrahydrofolate reductase gene in autistic spectrum disorder Egyptian children.
Am J Med Genet B Neuropsychiatr Genet;
180(5): 305-309, 2019 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31033224
9.
Williams-Beuren syndrome in diverse populations.
Am J Med Genet A;
176(5): 1128-1136, 2018 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29681090
10.
Screening and evaluation of TBX20 and CITED2 mutations in children with congenital cardiac septal defects: Correlation with cardiac troponin T and caspase-3.
Gene;
882: 147660, 2023 Oct 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37481008
11.
Clinical and molecular study of Egyptian patients with Treacher Collins syndrome.
Clin Dysmorphol;
32(4): 156-161, 2023 Oct 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37646764
12.
Efficacy of Laser Acupuncture for Children With Autism Spectrum Disorder: Clinical, Molecular, and Biochemical Study.
Pediatr Neurol;
147: 44-51, 2023 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37552913
13.
New drug-like small molecule antagonizes phosphatidylinositol (3,4,5)-trisphosphate (PIP3) in patients with conotruncal heart defects.
J Taibah Univ Med Sci;
18(6): 1244-1253, 2023 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37250809
14.
A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency.
J Mol Neurosci;
73(11-12): 976-982, 2023 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37924468
15.
First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease.
J Mol Neurosci;
73(7-8): 598-607, 2023 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37470904
16.
Sialic acid and anti-ganglioside M1 antibodies are invaluable biomarkers correlated with the severity of autism spectrum disorder.
Brain Dev;
45(4): 212-219, 2023 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36522215
17.
The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.
Mol Neurobiol;
2023 Dec 28.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38153683
18.
National screening for developmental delays and their determinants among Egyptian school age children: A step towards implementing life skills programs.
PLoS One;
18(9): e0287315, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37725608
19.
Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.
J Mol Neurosci;
72(11): 2242-2251, 2022 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36251212
20.
miR-454-3p and miR-194-5p targeting cardiac sarcolemma ion exchange transcripts are potential noninvasive diagnostic biomarkers for childhood dilated cardiomyopathy in Egyptian patients.
Egypt Heart J;
74(1): 65, 2022 Sep 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36076093