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Publications by Slaheddine Marrakchi

Identification of a Novel Missense Mutation in NIPAL4 Gene: First 3D Model Construction Predicted Its Pathogenicity

Molecular genetics & genomic medicine

Molecular Biology

English

Clinical and Laboratory Findings in 8 Patients With Bloom's Syndrome

Journal of Dermatological Case Reports

English

Related publications

A Novel Missense Mutation of F 9 Gene in Hemophilia B Patients

Journal of Blood Disorders & Transfusion

English

A Novel Missense Mutation in USP26 Gene Is Associated With Nonobstructive Azoospermia

Reproductive Sciences

English

Identification of Missense Mutation (I12T) in the BSND Gene and Bioinformatics Analysis

Journal of Biomedicine and Biotechnology

English

The Novel Missense Mutation Met48Lys in FKBP22 Changes Its Structure and Functions

Scientific Reports

Multidisciplinary

English

Compound Heterozygous Hemophilia a in a Female Patient and the Identification of a Novel Missense Mutation, p.Met1093Ile

Molecular Medicine Reports

Molecular Biology

Cancer Research

Molecular Medicine

English

A Novel Missense Mutation T101N in the Melanocortin-4 Receptor Gene Associated With Obesity

Genetics and Molecular Research

Molecular Biology

English

A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma

Archives of Dermatology

English

Novel Amyloid Precursor Protein Gene Missense Mutation (D678N) in Probable Familial Alzheimer's Disease

Journal of Neurology, Neurosurgery and Psychiatry

English

Identification of a Novel Missense FBN2 Mutation in a Chinese Family With Congenital Contractural Arachnodactyly Using Exome Sequencing

Multidisciplinary

English