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Publications by Paolo Brunamonti Binello

A Novel Missense Mutation in ANO5/TMEM16E Is Causative for Gnathodiaphyseal Dyplasia in a Large Italian Pedigree

European Journal of Human Genetics

English

Related publications

A Novel Mutation (LEU396ARG) in OPA1 Is Associated With a Severe Phenotype in a Large Dominant Optic Atrophy Pedigree

Sensory Systems

English

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

Reproductive Sciences

English

Phenotypic Expression of Heterozygous Lipoprotein Lipase Deficiency in the Extended Pedigree of a Proband Homozygous for a Missense Mutation.

Journal of Clinical Investigation

English

A Novel GJB1 Mutation Associated With X‐linked Charcot–Marie–Tooth Disease in a Large Chinese Family Pedigree

Molecular genetics & genomic medicine

Molecular Biology

English

Novel EXT1 Mutation Identified in a Pedigree With Hereditary Multiple Exostoses

Oncology Reports

Cancer Research

English

Glaucoma Phenotype in a Large Swiss Pedigree With the Myocilin Gly367Arg Mutation

Sensory Systems

English

A Novel Missense Mutation of COL5A2 in a Patient With Ehlers–Danlos Syndrome

Human Genome Variation

Molecular Biology

English

A Case of ALS-FTD in a Large FALS Pedigree With a K17I ANG Mutation

English

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

Journal of Blood Disorders & Transfusion

English