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Publications by Michele Carbonelli

First TMEM126A Missense Mutation in an Italian Proband With Optic Atrophy and Deafness

Neurology: Genetics

English

Repeatability of Optic Nerve Head Parameters Measured by Spectral-Domain OCT in Healthy Eyes

Ophthalmic Surgery, Lasers, and Imaging

English

Related publications

A Novel Missense OPA1 Mutation in a Patient With Dominant Optic Atrophy and Cervical Dystonia

Movement Disorders Clinical Practice

English

A De Novo Missense Mutation in a Critical Domain of the X-Linked DDP Gene Causes the Typical Deafness–dystonia–optic Atrophy Syndrome

European Journal of Human Genetics

English

Cancer Risks in First-Degree Relatives of CHEK2 Mutation Carriers: Effects of Mutation Type and Cancer Site in Proband

British Journal of Cancer

Cancer Research

English

Rare LPL Gene Missense Mutation in an Infant With Hypertriglyceridemia

Journal of Clinical Laboratory Analysis

Medical Laboratory Technology

Clinical Biochemistry

Occupational Health

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 Missense Mutation p.L76P in the GJB2 Gene Causing Nonsyndromic Recessive Deafness in a Brazilian Family

Brazilian Journal of Medical and Biological Research

English

Hereditary Optic Atrophy With Onset in Early Childhood.

British Journal of Ophthalmology

Molecular Neuroscience

Sensory Systems

English

Diagnostic Utility of Optic Nerve Measurements With MRI in Patients With Optic Nerve Atrophy

American Journal of Neuroradiology

Nuclear Medicine

English

A Novel Missense Mutation in the Second Extracellular Domain of GJB2, p.Ser183Phe, Causes a Syndrome of Focal Palmoplantar Keratoderma With Deafness

American Journal of Pathology

Forensic Medicine

English