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Publications by Caroline Ponmani

Heterozygous Glucokinase Splicing Mutation - Identical Genotype With Variable Phenotype in a Single Family

Endocrine Abstracts

English

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

Sensory Systems

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Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation

Internal Medicine

Specialized Nursing

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Genotype–phenotype Association in Patients With SCN4A Mutation – Authors' Reply

English

Genotype and Phenotype in Patients With Noonan Syndrome and a RIT1 Mutation

Genetics in Medicine

English

A Missense Cystic Fibrosis Transmembrane Conductance Regulator Mutation With Variable Phenotype

English

Phenotype and Genotype Report on Homozygous and Heterozygous Patients With Congenital Factor X Deficiency

English

Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

American Journal of Human Genetics

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Molecular Analysis of a Family With Congenital Adrenal Hyperplasia - Genotype/Phenotype Discrepancy

Balkan Journal of Medical Genetics

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A Novel Splicing Mutation in the FBN2 Gene in a Family With Congenital Contractural Arachnodactyly

Frontiers in Genetics

Molecular Medicine

English