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Publications by Yousef Shafeghati

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

Frontiers in Pediatrics

English

Related publications

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

English

Overlap Syndromes of Autoimmune Liver Disease

Journal of Clinical & Cellular Immunology

English

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

Journal of Clinical Oncology

Cancer Research

English

Phenotypic Overlap of Cardiac Sodium Channelopathies

Circulation Journal

Cardiovascular Medicine

English

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

Journal of Medical Genetics

English

Overlap Syndromes: Exploring the Genetic Underpinnings

Journal of Rheumatology

English