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Publications by Elena Nicolis

Mutation Screening of Elongation Factor 2 in Shwachman-Diamond Syndrome Patients Lacking Mutations in theSBDSGene

English

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Hematologically Important Mutations: Shwachman–Diamond Syndrome

Blood Cells, Molecules, and Diseases

Molecular Medicine

Molecular Biology

English

Shwachman-Diamond Syndrome

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Shwachman-Diamond Syndrome (SDS)

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cancer Research

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Ataluren-Driven Restoration of Shwachman-Bodian-Diamond Syndrome Protein Function in Shwachman-Diamond Syndrome Bone Marrow Cells

American Journal of Hematology

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Shwachman-Diamond Syndrome: Report From an International Conference

Journal of Pediatrics

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Multiple and Bilateral Cilioretinal Arteries With Shwachman-Diamond Syndrome

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Successful Unrelated Umbilical Cord Blood Transplantation in Children With Shwachman-Diamond Syndrome

Bone Marrow Transplantation

Transplantation

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Reduced-Intensity Conditioning Is Effective and Safe for Transplantation of Patients With Shwachman–Diamond Syndrome

Bone Marrow Transplantation

Transplantation

English

A Case of Shwachman-Diamond Syndrome Presenting With Diabetes From Early Infancy

Internal Medicine

Specialized Nursing

English