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Publications by Elisa Adele Colombo

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

Frontiers in Pediatrics

English

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Association of Mutations in FLNA With Craniosynostosis

European Journal of Human Genetics

English

COPD Overlap Syndromes: Asthma and Beyond

Chronic Obstructive Pulmonary Diseases

Respiratory Medicine

English

Phenotypic and Genotypic Overlap Between Mosaic NF2 and Schwannomatosis in Patients With Multiple Non-Intradermal Schwannomas

English

Identification of Novel KIF11 Mutations in Patients With Familial Exudative Vitreoretinopathy and a Phenotypic Analysis

Scientific Reports

Multidisciplinary

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Overlap Syndromes of Autoimmune Liver Disease

Journal of Clinical & Cellular Immunology

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Validation of a Prognostic Model and the Impact of Mutations in Patients With Lower-Risk Myelodysplastic Syndromes

Journal of Clinical Oncology

Cancer Research

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Phenotypic Overlap of Cardiac Sodium Channelopathies

Circulation Journal

Cardiovascular Medicine

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Mutations in USH2A in Spanish Patients With Autosomal Recessive Retinitis Pigmentosa: High Prevalence and Phenotypic Variation

Journal of Medical Genetics

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Overlap Syndromes: Exploring the Genetic Underpinnings

Journal of Rheumatology

English