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Author

Rahma Mkaouar

Observed name: R. Mkaouar
ORCID: 0000-0002-1663-672X
Observed ORCID: 0000-0002-1663-672X
OpenAlex ID: A5066324191
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism
2021 · Rahma Mkaouar, Lamia Cherif Ben Abdallah, et al. · Frontiers in Genetics · 17
Spectrum of Genetic Diseases in Tunisia: Current Situation and Main Milestones Achieved
2021 · Nessrine Mezzi, Olfa Messaoud, et al. · Genes · 15
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Homozygous 2p11.2 deletion supports the implication of ELMOD3 in hearing loss and reveals the potential association of CAPG with ASD/ID etiology
2018 · Saida Lahbib, Claire S. Leblond, et al. · Journal of Applied Genetics · 14
Genome Tunisia Project: paving the way for precision medicine in North Africa
2024 · Yosr Hamdi, Mediha Trabelsi, et al. · Genome Medicine · 12
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Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis
2021 · Cherine Charfeddine, Nadia Laroussi, et al. · PLoS ONE · 8
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A Tunisian family with a novel mutation in the gene CYP 4F22 for lamellar ichthyosis and co‐occurrence of hearing loss in a child due to mutation in the SLC 26A4 gene
2019 · Marwa Sayeb, Zied Riahi, et al. · International Journal of Dermatology · 8
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
2021 · Rahma Mkaouar, Zied Riahi, et al. · PLoS ONE · 6
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Congenital lamellar ichthyosis in Tunisia associated with vitamin D rickets caused by a founder nonsense mutation in the TGM 1 gene
2019 · Anissa Zaouak, Ghaith Abdessalem, et al. · International Journal of Dermatology · 5
Genetics of prelingual isolated deafness and Usher syndrome in the Maghreb and Jordan: Harnessing the potential of homozygosity
2025 · Zied Riahi, Sophie Boucher, et al. · Proceedings of the National Academy of Sciences · 1
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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time
2025 · Kezang C. Tshering, Marina T. DiStefano, et al. · Genetics in Medicine · 1
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ClinGen recuration of hearing loss-associated genes demonstrates significant changes in gene-disease validity over time
2025 · Kezang C. Tshering, Marina T. DiStefano, et al. · Genetics in Medicine · 1
Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
2024 · Rahma Mkaouar, Zied Riahi, et al. · Frontiers in Genetics · 1
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Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
2024 · Rahma Mkaouar, Zied Riahi, et al. · Frontiers in Genetics · 1
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Comorbidity of bathing suit ichthyosis and limb-girdle muscular dystrophy type 2 A in a Tunisian patient revealed by Whole Exome Sequencing
2024 · Nessrine Mezzi, Anissa Zaouak, et al. · Gene
Inversion of the Frequencies of Autosomal Recessive and X-Linked Dominant Forms of Alport Syndrome in the Tunisian Population
2023 · El Younsi Mariem, Ahlem Achour, et al. · Research Square
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Les manifestations systémiques et auto-immunes au cours du syndrome H : une série de 13 cas
2021 · M. Ben Rejeb, L. Boussofara, et al. · La Revue de Médecine Interne
Works count: 16
Citation count: 90
H-index: 6
I10-index: 4
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