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Publications by Souhir Khedhiri

Molecular Analysis of Mucopolysaccharidosis Type I in Tunisia: Identification of Novel Mutation and Eight Novel Polymorphisms

Diagnostic Pathology

Forensic Medicine

English

Related publications

Molecular Analysis of Wilson Disease in Taiwan: Identification of One Novel Mutation and Evidence of Haplotype-Mutation Association

Journal of Human Genetics

English

Three Novel Α-L-Iduronidase Mutations in 10 Unrelated Chinese Mucopolysaccharidosis Type I Families

Genetics and Molecular Biology

Molecular Biology

English

Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene

Internal Medicine

Molecular Biology

English

Progranulin Mutation Analysis: Identification of One Novel Mutation in Exon 12 Associated With Frontotemporal Dementia

Neurobiology of Aging

Developmental Biology

English

A Case of Xanthinuria Type I With a Novel Mutation in Xanthine Dehydrogenase

CEN Case Reports

English

Widespread Distribution and Identification of Eight Novel Microcystins in Antarctic Cyanobacterial Mats

Applied and Environmental Microbiology

Applied Microbiology

English

Identification and Functional Analysis of a Novel Von Willebrand Factor Mutation in a Family With Type 2A Von Willebrand Disease

Multidisciplinary

English

Identification of a Novel Nonsense Mutation in POLH in a Chinese Pedigree With Xeroderma Pigmentosum, Variant Type

International Journal of Medical Sciences

English

Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein

American Journal of Medical Genetics, Part A

English