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Publications by Debora Bertaggia-Calderara

Gray Platelet Syndrome: Novel Mutations of the NBEAL2 Gene

American Journal of Hematology

English

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Identification of Novel ROR2 Gene Mutations in Indian Children With Robinow Syndrome

JCRPE Journal of Clinical Research in Pediatric Endocrinology

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Novel Mutations in the IRF6 Gene in Brazilian Families With Van Der Woude Syndrome

International Journal of Molecular Medicine

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Usher Syndrome Type III: Revised Genomic Structure of the USH3 Gene and Identification of Novel Mutations

American Journal of Human Genetics

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Four Novel Thymidine Phosphorylase Gene Mutations in Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome (MNGIE) Patients

European Journal of Human Genetics

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Mutations in the Nijmegen Breakage Syndrome Gene in Medulloblastomas

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Novel CUL7 Biallelic Mutations Alter the Skeletal Phenotype of 3M Syndrome

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Novel GRN Mutations in Patients With Corticobasal Syndrome

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Mutations in the Human TBX4 Gene Cause Small Patella Syndrome

American Journal of Human Genetics

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Three Novel Mutations of the PAX6 Gene in Japanese Aniridia Patients

Journal of Human Genetics

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