El-Bassyouni HT - Search Results

1

Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families.

El-Kamah GY, Mehrez MI, Taher MB, El-Bassyouni HT, Gaber KR, Amr KS. El-Kamah GY, et al. Among authors: el bassyouni ht. Genes (Basel). 2023 Apr 12;14(4):900. doi: 10.3390/genes14040900. Genes (Basel). 2023. PMID: 37107657 Free PMC article.

2

Maternal vitamin B12 and the risk of fetal neural tube defects in Egyptian patients.

Gaber KR, Farag MK, Soliman SE, El-Bassyouni HT, El-Kamah G. Gaber KR, et al. Clin Lab. 2007;53(1-2):69-75. Clin Lab. 2007. PMID: 17323828

3

The most encountered groups of genetic disorders in Giza Governorate, Egypt.

Afifi HH, El-Ruby MO, El-Bassyouni HT, Ismail SI, Aglan MS, El-Harouni AA, Mazen IM, Zaki MS, Bassiouni RI, Hosny LA, El-Kamah GY, El-Kotoury AI, Ashour AM, Abdel-Salam GM, El-Gammal MA, Hamed K, Kamal RM, El-Nekhely I, Temtamy SA. Afifi HH, et al. Bratisl Lek Listy. 2010;111(2):62-9. Bratisl Lek Listy. 2010. PMID: 20429316

4

Association of the Pro12Ala Polymorphism with the Metabolic Parameters in Women with Polycystic Ovary Syndrome.

Zaki M, Hassan N, El-Bassyouni HT, Kamal S, Basha W, Azmy O, Amr K. Zaki M, et al. Open Access Maced J Med Sci. 2017 Jun 13;5(3):275-280. doi: 10.3889/oamjms.2017.088. eCollection 2017 Jun 15. Open Access Maced J Med Sci. 2017. PMID: 28698741 Free PMC article.

5

Association of vitamin D receptor gene polymorphism (VDR) with vitamin D deficiency, metabolic and inflammatory markers in Egyptian obese women.

Zaki M, Kamal S, Basha WA, Youness E, Ezzat W, El-Bassyouni H, Amr K. Zaki M, et al. Genes Dis. 2017 Jul 18;4(3):176-182. doi: 10.1016/j.gendis.2017.07.002. eCollection 2017 Sep. Genes Dis. 2017. PMID: 30258921 Free PMC article.

6

Genetic assessment of ten Egyptian patients with Sjögren-Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation.

Amr K, El-Bassyouni HT, Ismail S, Youness E, El-Daly SM, Ebrahim AY, El-Kamah G. Amr K, et al. Arch Dermatol Res. 2019 Nov;311(9):721-730. doi: 10.1007/s00403-019-01953-6. Epub 2019 Aug 6. Arch Dermatol Res. 2019. PMID: 31388754

7

Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.

Abdel-Salam GMH, Sayed ISM, Afifi HH, Abdel-Ghafar SF, Abouzaid MR, Ismail SI, Aglan MS, Issa MY, El-Bassyouni HT, El-Kamah G, Effat LK, Eid M, Zaki MS, Temtamy SA, Abdel-Hamid MS. Abdel-Salam GMH, et al. Am J Med Genet A. 2020 Jun;182(6):1407-1420. doi: 10.1002/ajmg.a.61585. Epub 2020 Apr 8. Am J Med Genet A. 2020. PMID: 32267100

8

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.

Neuray C, Maroofian R, Scala M, Sultan T, Pai GS, Mojarrad M, Khashab HE, deHoll L, Yue W, Alsaif HS, Zanetti MN, Bello O, Person R, Eslahi A, Khazaei Z, Feizabadi MH, Efthymiou S; SYNaPS Study Group; El-Bassyouni HT, Soliman DR, Tekes S, Ozer L, Baltaci V, Khan S, Beetz C, Amr KS, Salpietro V, Jamshidi Y, Alkuraya FS, Houlden H. Neuray C, et al. Brain. 2020 Aug 1;143(8):2388-2397. doi: 10.1093/brain/awaa178. Brain. 2020. PMID: 32705143 Free PMC article.

9

Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum.

Amr K, Fateen E, Mansour L, Tosson AM, Zaki MS, Salam GMA, Mohamed AN, El-Bassyouni HT. Amr K, et al. J Mol Neurosci. 2021 May;71(5):1112-1130. doi: 10.1007/s12031-020-01734-1. Epub 2020 Nov 13. J Mol Neurosci. 2021. PMID: 33185815

10

Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease.

Sayed Amr K, El-Bassyouni HT, Abdel Hady S, Mostafa MI, Mehrez MI, Coviello D, El-Kamah GY. Sayed Amr K, et al. Genes (Basel). 2021 Sep 29;12(10):1552. doi: 10.3390/genes12101552. Genes (Basel). 2021. PMID: 34680947 Free PMC article.

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