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Publications by Miriam D'Avanzo

A New Complex Allele of the CFTR Gene Partially Explains the Variable Phenotype of the L997F Mutation

Genetics in Medicine

English

Related publications

New Ocular Phenotype Associated With a Mutation in the PAX2 Gene

Sensory Systems

English

A Mutation in Exon 7 of the CFTR Gene Is Common in the Western Part of France.

Journal of Medical Genetics

English

Effects of Variable Mutation Rates and Epistasis on the Distribution of Allele Frequencies in Humans

English

Severe Cystic Fibrosis in a Child Homozygous for the G542 Nonsense Mutation in the CFTR Gene.

Journal of Medical Genetics

English

Clinical Hallmarks and Genetic Polymorphisms in the CFTR Gene Contribute to the Disclosure of the A1006E Mutation

Clinical and Investigative Medicine

English

BIGH3 Mutation in a Bangladeshi Family With a Variable Phenotype of LCDI

Sensory Systems

English

A Simple, Fast and Inexpensive Method for Mutation Scanning of CFTR Gene

BMC Medical Genetics

English

Phenotype and Prognosis of the Lamin a/C Gene (LMNA) Mutation Carriers in Japan

Circulation Journal

Cardiovascular Medicine

English

COL4A1 Mutation: Expansion of the Phenotype

Pediatric Research

English