Ahmed HA - Search Results

1

Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.

Ahmed HA, Fadel FI, Abdel Mawla MA, Salah DM, Fathallah MG, Amr K. Ahmed HA, et al. Mol Genet Genomic Med. 2022 Aug;10(8):e1992. doi: 10.1002/mgg3.1992. Epub 2022 Jun 3. Mol Genet Genomic Med. 2022. PMID: 35661454 Free PMC article.

2

Primary hyperoxaluria type 1 in children: Clinical classification, renal replacement therapy, and outcome in a single centre experience.

Fadel FI, Kotb MA, Abdel Mawla MA, Hasanin RM, Salem AM, Fathallah MG, Amr KS, Ahmed HA, Salah DM. Fadel FI, et al. Among authors: ahmed ha. Ther Apher Dial. 2022 Feb;26(1):162-170. doi: 10.1111/1744-9987.13666. Epub 2021 May 17. Ther Apher Dial. 2022. PMID: 33945205

3

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.

Ahmed HA, El-Kamah GY, Rabie E, Mostafa MI, Abouzaid MR, Hassib NF, Mehrez MI, Abdel-Kader MA, Mohsen YH, Zada SK, Amr KS, Sayed ISM. Ahmed HA, et al. Genes (Basel). 2021 Sep 8;12(9):1389. doi: 10.3390/genes12091389. Genes (Basel). 2021. PMID: 34573371 Free PMC article.

4

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity.

Rabie EA, Sayed ISM, Amr K, Ahmed HA, Mostafa MI, Hassib NF, El-Sayed H, Zada SK, El-Kamah G. Rabie EA, et al. Among authors: ahmed ha. Genes (Basel). 2022 Jun 13;13(6):1056. doi: 10.3390/genes13061056. Genes (Basel). 2022. PMID: 35741818 Free PMC article.

5

A novel variant in GNPNAT1 gene causing a spondylo-epi-metaphyseal dysplasia resembling PGM3-Desbuquois like dysplasia.

Elhossini RM, Ahmed HA, Otaify G, Ghorab RM, Amr K, Aglan M. Elhossini RM, et al. Among authors: ahmed ha. Am J Med Genet A. 2022 Oct;188(10):2861-2868. doi: 10.1002/ajmg.a.62933. Epub 2022 Aug 11. Am J Med Genet A. 2022. PMID: 36097642

6

Ahmed HA, Elhossini R, Aglan M, Amr K. Ahmed HA, et al. J Genet Eng Biotechnol. 2024 Mar;22(1):100341. doi: 10.1016/j.jgeb.2023.100341. Epub 2024 Jan 30. J Genet Eng Biotechnol. 2024. PMID: 38494255 Free PMC article.

7

Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.

Elaraby NM, Ahmed HA, Dawoud H, Ashaat NA, Azmy A, Galal ER, Elhusseny Y, Awady HE, Metwally AM, Ashaat EA. Elaraby NM, et al. Among authors: ahmed ha. Mol Biol Rep. 2024 Jun 15;51(1):766. doi: 10.1007/s11033-024-09646-8. Mol Biol Rep. 2024. PMID: 38877370

8

Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.

Elaraby NM, Ahmed HA, Ashaat NA, Tawfik S, Ahmed MKH, Hassib NF, Ashaat EA. Elaraby NM, et al. Among authors: ahmed ha, ahmed mkh. J Mol Neurosci. 2022 Nov;72(11):2242-2251. doi: 10.1007/s12031-022-02074-y. Epub 2022 Oct 17. J Mol Neurosci. 2022. PMID: 36251212 Free PMC article. Review.

9

The Diagnostic Value of Whole-Exome Sequencing in a Spectrum of Rare Neurological Disorders Associated with Cerebellar Atrophy.

Ashaat EA, Ahmed HA, Elaraby NM, Fayez A, Metwally AM, Mekkawy MK, Hussen DF, Ashaat NA, Elhossini RM, ElAwady HA, Abdelgawad RHA, Gammal ME, Al Kersh MA, Saleh DA. Ashaat EA, et al. Among authors: ahmed ha. Mol Neurobiol. 2024 Aug;61(8):4949-4961. doi: 10.1007/s12035-023-03866-y. Epub 2023 Dec 28. Mol Neurobiol. 2024. PMID: 38153683 Free PMC article.

10

Evaluation of tumorigenesis-related miRNAs in breast cancer in Egyptian women: a retrospective, exploratory analysis.

Salum GM, Elaraby NM, Ahmed HA, Abd El Meguid M, Fotouh BE, Ashraf M, Elhusseny Y, Dawood RM. Salum GM, et al. Among authors: ahmed ha. Sci Rep. 2024 Nov 29;14(1):29757. doi: 10.1038/s41598-024-68758-0. Sci Rep. 2024. PMID: 39614097 Free PMC article.

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