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Publications by G. Moulis

Homozygous Mutation of the 5'UTR Region of the L-Ferritin Gene in the Hereditary Hyperferritinemia Cataract Syndrome and Its Impact on the Phenotype

English

Related publications

On the Hyperferritinemia and Hereditary Cataract Syndrome

Open Journal of Blood Diseases

English

Characterization of a Family Mutation in the 5’ Untranslated Region of the Endoglin Gene Causative of Hereditary Hemorrhagic Telangiectasia

Journal of Human Genetics

English

A Novel Homozygous Mutation in the WNK1/HSN2 Gene Causing Hereditary Sensory Neuropathy Type 2.

Acta Biochimica Polonica

Molecular Biology

English

The Effects of an Insertion in the 5′UTR of the AMCase on Gene Expression and Pulmonary Functions

Respiratory Medicine

Respiratory Medicine

English

Potential Intra- And Intermolecular Interactions Involving the Unique-5′ Region of the HIV-1 5′-Utr†

English

A Novel Homozygous Truncating Mutation in LAMB2 Gene in a Chinese Uyghur Patient With Severe Phenotype Pierson Syndrome

Frontiers in Medicine

English

Homozygous R396H Mutation of the RAG1 Gene in a Saudi Infant With Omenn's Syndrome: A Case Report

English

4H Leukodystrophy Caused by a Homozygous POLR3B Mutation: Further Delineation of the Phenotype

American Journal of Medical Genetics, Part A

English

SMAD4 Mutation and the Combined Syndrome of Juvenile Polyposis Syndrome and Hereditary Haemorrhagic Telangiectasia

Respiratory Medicine

English