Ilhem Ben Charfeddine

Author

Also Known As

BEN CHARFEDDINE, Ilhem, I Ben Charfeddine, I. Ben Charfeddine, I.B. Charfeddine, Ilhem B Charfeddine, Ilhem Ben Charfeddine

Publications

436

Citations

H-Index

Concepts

All Affiliations

Hôpital Farhat Hached University of Kairouan University of Lübeck University Hospital Schleswig-Holstein Christian-Albrechts-Universität zu Kiel

About

Ilhem Ben Charfeddine is an author at Hôpital Farhat Hached specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	193
2	Natural Sciences	1	1	27
3	Public Health	1	1	21
4	Biochemistry	1	1	27
5	Diabetes	1	1	27

Ilhem Ben Charfeddine

Publications

375

Citations

H-Index

Page 1

	Year	Citations
Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency Ahmed Khattab, Shozeb Haider, Ameet Kumar, Proceedings of the National Academy of Sciences	2017	151
An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation Moez Gribaa, M. Younès, Yosra Bouyacoub, Journal of Bone and Mineral Metabolism Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseTunisian Family	2009	57
Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients Abdelbasset Amara, Labiba Adala, Ilhem Ben Charfeddine, European Journal of Paediatric Neurology Genetic DisorderMedicineGeneticsGenetic EpidemiologyHuman Polymorphism	2011	38
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III A. Mili, Ilhem Ben Charfeddine, Ons Mamaï, Journal of Human Genetics GlycoproteomicsBiochemistryNatural SciencesBioanalysisGlycobiology	2011	27
Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: Characterization of three novel polymorphisms Ilhem Ben Charfeddine, Felix G. Riepe, Éric Clauser, Gene Mendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseHuman Polymorphism	2012	27
Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family Ilhem Ben Charfeddine, Felix G. Riepe, N. Kahloul, General and Comparative Endocrinology Adrenal GlandUrologyNovel Cyp11b1 MutationsGenetic DisorderGenetics	2011	23
Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian population Houda Ghédir, Moez Gribaa, Ons Mamaï, Journal of Assisted Reproduction and Genetics InfertilityAllelic VariantMendelian DisorderGenetic DisorderMedicine	2015	21
Evaluation of Chitine synthase (CHS1) polymerase chain reaction assay in diagnosis of dermatophyte onychomycosis Imen Dhib, A. Fathallah, Ilhem Ben Charfeddine, Journal de Mycologie Médicale	2012	21
Genetic Analysis of Mu and Kappa Opioid Receptor and COMT Enzyme in Cancer Pain Tunisian Patients Under Opioid Treatment. Imen Chatti, Jean‐Baptiste Woillard, A. Mili, PubMed	2017	10

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