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Bochra Ben Rhouma

Observed names: B. Ben Rhouma, Ben Rhouma Bochra, Bochra Ben Rhoum, Bochra Ben‐Rhouma
OpenAlex ID: A5051308474
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling
2018 · Abigail Harris, Pam Siggers, et al. · Proceedings of the National Academy of Sciences · 104
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Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
2023 · Katie L. Ayers, Stefanie Eggers, et al. · Nature Communications · 23
Biochemical analyses and molecular modeling explain the functional loss of 17β-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development
2015 · Roger T. Engeli, Bochra Ben Rhouma, et al. · The Journal of Steroid Biochemistry and Molecular Biology · 22
Cytogenetic monitoring of hospital staff exposed to ionizing radiation: optimize protocol considering DNA repair genes variability
2017 · Hajer Doukali, Ghada Ben Salah, et al. · International Journal of Radiation Biology · 19
A Novel Nonsense Mutation in HSD17B3 Gene in a Tunisian Patient with Sexual Ambiguity
2012 · Bochra Ben Rhouma, Neila Belguith, et al. · The Journal of Sexual Medicine · 16
Novel cases of Tunisian patients with mutations in the gene encoding 17β-hydroxysteroid dehydrogenase type 3 and a founder effect
2016 · Bochra Ben Rhouma, Fakhri Kallabi, et al. · The Journal of Steroid Biochemistry and Molecular Biology · 13
Splicing Defects in the AAAS Gene Leading to both Exon Skipping and Partial Intron Retention in a Tunisian Patient with Allgrove Syndrome
2016 · Fakhri Kallabi, Bochra Ben Rhouma, et al. · Hormone Research in Paediatrics · 12
Novel mutations in the CDKL5 gene in complex genotypes associated with West syndrome with variable phenotype: First description of somatic mosaic state
2017 · Marwa Ben Jdila, Abir Ben Issa, et al. · Clinica Chimica Acta · 10
Mutational analysis in patients with neuromuscular disorders: Detection of mitochondrial deletion and double mutations in the MT-ATP6 gene
2016 · Rahma Felhi, Emna Mkaouar-Rebai, et al. · Biochemical and Biophysical Research Communications · 10
Clinical, Molecular, and Computational Analysis Showed a Novel Homozygous Mutation Among the Substrate-Binding Site of ARSA Protein in Consanguineous Family with Late-Infantile MLD
2018 · Abir Ben Issa, Fatma Kammoun Feki, et al. · Journal of Molecular Neuroscience · 9
A novel C‐terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation
2018 · Marwa Ben Jdila, Chahnez Triki, et al. · International Journal of Developmental Neuroscience · 8
Chromosomal instability associated with a novel BLM frameshift mutation (c.1980‐1982delAA) in two unrelated Tunisian families with Bloom syndrome
2013 · G. Ben Salah, I. Hadj Salem, et al. · Journal of the European Academy of Dermatology and Venereology · 8
A duplex polymerase chain reaction‐restriction fragment length polymorphism for rapid screening of methylenetetrahydrofolate reductase gene variants: Genotyping in acute leukemia
2017 · Rim Frikha, Nouha Bouayed, et al. · Journal of Clinical Laboratory Analysis · 6
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A novel de novo splicing mutation c.1444‐2A>T in the TSC2 gene causes exon skipping and premature termination in a patient with tuberous sclerosis syndrome
2019 · Mayssa Abdelwahed, Renaud Touraine, et al. · IUBMB Life · 4
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Association study of apoptosis gene polymorphisms in mitochondrial diabetes: A potential role in the pathogenicity of MD
2017 · Mouna Tabebi, Bodour Khabou, et al. · Gene · 4
Molecular mechanisms underlying the defects of two novel mutations in the HSD17B3 gene found in the Tunisian population
2022 · Bochra Ben Rhouma, Manuel Kley, et al. · The Journal of Steroid Biochemistry and Molecular Biology · 2
Endothelial Lipase RS3744843 Polymorphism and Lipid Profile in Bechet’s Disease Patients
2026 · Rihab Makhlouf, Meriam Messedi, et al. · La Tunisie Médicale
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Investigation moléculaire des patients ayant des anomalies du développement sexuel masculin 46,XY DSD : expérience du laboratoire de génétique moléculaire humaine (LGMH)
2024 · B. Ben Rhouma, S. Khmiha, et al. · Annales d Endocrinologie
Corrélation phénotype-génotype des anomalies du développement sexuel (DSD) XY et XX testiculaires dans la région Nord-Afrique
2024 · H. Frikha, M. Elleuch, et al. · Annales d Endocrinologie
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defects
2023 · Katie L. Ayers, Stefanie Eggers, et al. · Nature Communications
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Molecular Mechanisms Underlying the Defects of Two Novel Mutations in the Hsd17b3 Gene Found in the Tunisian Population
2022 · Bochra Ben Rhouma, Manuel Kley, et al. · SSRN Electronic Journal
Gonadal Dysgenesis, 46 XY About 5 Familial Cases
2019 · Wajdi Safi, Kacem Faten Hadj, et al. · 58th Annual ESPE Meeting (ESPE 2019)
Primary Amenorrhea Revealing Leydig Cell Hypoplasia
2019 · I. Gargouri, Faten Hadjkacem, et al. · 58th Annual ESPE Meeting (ESPE 2019)
17-Beta hydroxysteroid dehydrogenase 3 deficiency: Three case reports
2018 · Mehdi Kalthoum, Bochra Ben Rhouma, et al. · Endocrine Abstracts
17β‐ヒドロキシステロイドデヒドロゲナーゼ3型と創始者効果をコードする遺伝子に変異を有するチュニジア人患者の新しい例【Powered by NICT】
2017 · Ben Rhouma Bochra, Fakhri Kallabi, et al. · The Journal of Steroid Biochemistry and Molecular Biology
Works count: 32
Citation count: 270
H-index: 9
I10-index: 9
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