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Publications by Ilaria Di Donato

Oculodentodigital Dysplasia With Massive Brain Calcification and a New Mutation of GJA1 Gene

Journal of Alzheimer's Disease

Clinical Psychology

English

Related publications

882 Syndactyly Type III and Hypotrichosis in Oculodentodigital Syndrome With GJA1 Mutation

Journal of Investigative Dermatology

Molecular Biology

English

CSF1R Mutation p.G589R and the Distribution Pattern of Brain Calcification

Internal Medicine

Internal Medicine

English

Functional Characterization of Oculodentodigital Dysplasia-Associated Cx43 Mutants

Cell Communication and Adhesion

Clinical Biochemistry

English

Silicosis: Progressive Massive Fibrosis With Eggshell Calcification

BMJ Case Reports

English

A Plakophilin-1 Gene Mutation in an Egyptian Family With Ectodermal Dysplasia-Skin Fragility Syndrome

Molecular Syndromology

English

Mutation of the Type X Collagen Gene (COL10A1) Causes Spondylometaphyseal Dysplasia

American Journal of Human Genetics

English

Ocular Pathology Relevant to Glaucoma in aGja1Jrt/+Mouse Model of Human Oculodentodigital Dysplasia

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

New Ocular Phenotype Associated With a Mutation in the PAX2 Gene

Sensory Systems

English

Massive Mitral Annular Calcification: A Stone in the Heart

Canadian Journal of Cardiology

Cardiovascular Medicine

English