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Publications by Mouna Mnif

Erratum To: Segregation of S292F TPO Gene Mutation in Three Large Tunisian Families With Thyroid Dyshormonogenesis: Evidence of a Founder Effect

European Journal of Pediatrics

English

Thyroid Dyshormonogenesis: Therapeutic Data of a Group of Seventeen Patients

Endocrine Abstracts

2016

English

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Phenotype of Three Consanguineous Tunisian Families With Early-Onset Retinal Degeneration Caused by an R91W Homozygous Mutation in the RPE65 Gene

Graefe's Archive for Clinical and Experimental Ophthalmology

Molecular Neuroscience

English

Prevalence of C.2268dup and Detection of Two Novel Alterations, C.670_672del and C.1186C>T, in the TPO Gene in a Cohort of Malaysian-Chinese With Thyroid Dyshormonogenesis

BMJ Open

Medicine

2015

English

Phenotypic Heterogeneity in British Patients With a Founder Mutation in the FHL1 Gene

European Journal of Human Genetics

Genetics

2011

English

The 752delG26 Mutation in the RFXANK Gene Associated With Major Histocompatibility Complex Class II Deficiency: Evidence for a Founder Effect in the Moroccan Population

English

Growth Hormone Insensitivity With Immune Dysfunction Caused by a STAT5B Mutation in the South of Brazil: Evidence for a Founder Effect

Genetics and Molecular Biology

Genetics

Molecular Biology

2017

English

Founder Mutation(s) in theRSPH9Gene Leading to Primary Ciliary Dyskinesia in Two Inbred Bedouin Families

Annals of Human Genetics

Genetics

2010

English

Novel Splice Site IDUA Gene Mutation in Tunisian Pedigrees With Hurler Syndrome

English

High Prevalence of a Missense Mutation of the Glucokinase Gene in Gestational Diabetic Patients Due to a Founder-Effect in a Local Population

English

Screening of Nineteen Unrelated Families With Generalized Resistance to Thyroid Hormone for Known Point Mutations in the Thyroid Hormone Receptor Beta Gene and the Detection of a New Mutation.

Journal of Clinical Investigation

Medicine

1991

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Mouna Mnif

Erratum To: Segregation of S292F TPO Gene Mutation in Three Large Tunisian Families With Thyroid Dyshormonogenesis: Evidence of a Founder Effect

Thyroid Dyshormonogenesis: Therapeutic Data of a Group of Seventeen Patients

Related publications

Phenotype of Three Consanguineous Tunisian Families With Early-Onset Retinal Degeneration Caused by an R91W Homozygous Mutation in the RPE65 Gene

Prevalence of C.2268dup and Detection of Two Novel Alterations, C.670_672del and C.1186C>T, in the TPO Gene in a Cohort of Malaysian-Chinese With Thyroid Dyshormonogenesis

Phenotypic Heterogeneity in British Patients With a Founder Mutation in the FHL1 Gene

The 752delG26 Mutation in the RFXANK Gene Associated With Major Histocompatibility Complex Class II Deficiency: Evidence for a Founder Effect in the Moroccan Population

Growth Hormone Insensitivity With Immune Dysfunction Caused by a STAT5B Mutation in the South of Brazil: Evidence for a Founder Effect

Founder Mutation(s) in theRSPH9Gene Leading to Primary Ciliary Dyskinesia in Two Inbred Bedouin Families

Novel Splice Site IDUA Gene Mutation in Tunisian Pedigrees With Hurler Syndrome

High Prevalence of a Missense Mutation of the Glucokinase Gene in Gestational Diabetic Patients Due to a Founder-Effect in a Local Population

Screening of Nineteen Unrelated Families With Generalized Resistance to Thyroid Hormone for Known Point Mutations in the Thyroid Hormone Receptor Beta Gene and the Detection of a New Mutation.