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AFIF BEN MAHMOUD
AFIF BEN MAHMOUD
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在 hbku.edu.qa 的电子邮件经过验证
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引用次数
引用次数
年份
Antagonist effects of Bacillus spp. strains against Fusarium graminearum for protection of durum wheat (Triticum turgidum L. subsp. durum)
I Zalila-Kolsi, AB Mahmoud, H Ali, S Sellami, Z Nasfi, S Tounsi, ...
Microbiological research 192, 148-158, 2016
1392016
Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men
S Baklouti-Gargouri, M Ghorbel, A Ben Mahmoud, E Mkaouar-Rebai, ...
Molecular biology reports 40, 4705-4712, 2013
402013
A novel mutation MT-COIII m. 9267G> C and MT-COI m. 5913G> A mutation in mitochondrial genes in a Tunisian family with maternally inherited diabetes and deafness (MIDD …
M Tabebi, E Mkaouar-Rebai, M Mnif, F Kallabi, AB Mahmoud, WB Saad, ...
Biochemical and biophysical research communications 459 (3), 353-360, 2015
332015
Identification of a novel m.9588G > A missense mutation in the mitochondrial COIII gene in asthenozoospermic Tunisian infertile men
S Baklouti-Gargouri, M Ghorbel, A Ben Mahmoud, E Mkaouar-Rebai, ...
Journal of assisted reproduction and genetics 31, 595-600, 2014
262014
Genetics of hypogonadotropic Hypogonadism—Human and mouse genes, inheritance, oligogenicity, and genetic counseling
ED Louden, A Poch, HG Kim, A Ben-Mahmoud, SH Kim, LC Layman
Molecular and cellular endocrinology 534, 111334, 2021
252021
A novel aberrant splice site mutation in COL27A1 is responsible for Steel syndrome and extension of the phenotype to include hearing loss
N Gariballa, A Ben‐Mahmoud, M Komara, AM Al‐Shamsi, A John, BR Ali, ...
American Journal of Medical Genetics Part A 173 (5), 1257-1263, 2017
222017
Whole mitochondrial genome screening of a family with maternally inherited diabetes and deafness (MIDD) associated with retinopathy: A putative haplotype associated to MIDD and …
M Tabebi, N Charfi, F Kallabi, O Alila-Fersi, AB Mahmoud, A Tlili, ...
Journal of Diabetes and its Complications 31 (1), 253-259, 2017
222017
Two novel mutations in COII and tRNAHis mitochondrial genes in asthenozoospermic infertiles men
BG Siwar, G Myriam, BM Afif, MR Emna, C Nozha, S Afifa, F Faiza, ...
Biochemical and Biophysical Research Communications 450 (1), 610-615, 2014
212014
A novel m.6307A>G mutation in the mitochondrial COXI gene in asthenozoospermic infertile men
S Baklouti‐Gargouri, M Ghorbel, A Ben Mahmoud, E Mkaouar‐Rebai, ...
Molecular Reproduction and Development 80 (7), 581-587, 2013
212013
Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect
BB Rhouma, F Kallabi, N Mahfoudh, AB Mahmoud, RT Engeli, H Kamoun, ...
The Journal of steroid biochemistry and molecular biology 165, 86-94, 2017
162017
A B3GALT6 variant in patient originally described as Al‐Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some …
A Ben‐Mahmoud, S Ben‐Salem, M Al‐Sorkhy, A John, BR Ali, L Al‐Gazali
Clinical Genetics 93 (6), 1148-1158, 2018
152018
Evaluating the Role of MAST1 as an Intellectual Disability Disease Gene: Identification of a Novel De Novo Variant in a Patient with Developmental Disabilities
A Ben-Mahmoud, AM Al-Shamsi, BR Ali, L Al-Gazali
Journal of Molecular Neuroscience 70, 320-327, 2020
142020
Bacillus amyloliquefaciens: Harnessing Its Potential for Industrial, Medical, and Agricultural Applications—A Comprehensive Review
I Zalila-Kolsi, A Ben-Mahmoud, R Al-Barazie
Microorganisms 11 (9), 2215, 2023
112023
Eif2b3 mutants recapitulate phenotypes of vanishing white matter disease and validate novel disease alleles in zebrafish
YR Lee, SH Kim, A Ben-Mahmoud, OH Kim, TI Choi, KH Lee, B Ku, J Eum, ...
Human molecular genetics 30 (5), 331-342, 2021
112021
A novel MT-CO2 m. 8249G> A pathogenic variation and the MT-TW m. 5521G> A mutation in patients with mitochondrial myopathy
E Mkaouar-Rebai, A Ben Mahmoud, I Chamkha, I Chabchoub, ...
Mitochondrial DNA 25 (5), 394-399, 2014
112014
A Novel Mutation p. A59P in N-Terminal Domain of Methyl-CpG–Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients: Clinical Evaluations and In …
M Kharrat, I Hsairi, N Fendri-Kriaa, H Kenoun, HB Othmen, ...
Journal of child neurology 30 (13), 1715-1721, 2015
82015
First functional analysis of a novel splicing mutation in the B3GALTL gene by an ex vivo approach in Tunisian patients with typical Peters plus syndrome
AB Mahmoud, O Siala, RB Mansour, F Driss, S Baklouti-Gargouri, ...
Gene 532 (1), 13-17, 2013
72013
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders
A Ben-Mahmoud, KR Jun, V Gupta, P Shastri, A de la Fuente, Y Park, ...
Frontiers in Molecular Neuroscience 15, 979061, 2022
52022
A putative disease-associated haplotype within the SCN1A gene in Dravet syndrome
N Fendri-Kriaa, S Boujilbene, F Kammoun, E Mkaouar-Rebai, ...
Biochemical and biophysical research communications 408 (4), 654-657, 2011
52011
Do GSTM1 and GSTT1 polymorphisms influence the risk of developing mitochondrial diseases in a Tunisian population?
R Ghorbel, G Ben Salah, R Ghorbel, A Ben Mahmoud, I Chamkha, ...
Environmental Science and Pollution Research 25, 5779-5787, 2018
42018
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