Detalhe da pesquisa
1.
Turner syndrome in diverse populations.
Am J Med Genet A;
182(2): 303-313, 2020 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31854143
2.
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
3.
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
4.
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
5.
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
6.
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
7.
The potential impact of COMT gene variants on dopamine regulation and phenotypic traits of ASD patients.
Behav Brain Res;
378: 112272, 2020 01 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31586564
8.
Correction to: Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene.
J Mol Neurosci;
74(2): 58, 2024 Jun 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38822216