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Publications by Gesmar R. S. Segundo

A Novel Homozygous JAK3 Mutation Leading to T-B+nk– SCID in Two Brazilian Patients

Frontiers in Pediatrics

English

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T-B Severe Combined Immunodeficiency Due to JAK3 Deficiency

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Correction: A Novel Human IL2RB Mutation Results in T and NK Cell–driven Immune Dysregulation

Journal of Experimental Medicine

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GNE Myopathy in Turkish Sisters With a Novel Homozygous Mutation

Case Reports in Neurological Medicine

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Novel Homozygous GBA2 Mutation in a Patient With Complicated Spastic Paraplegia

Clinical Neurology and Neurosurgery

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Novel Bicyclization Reaction Leading to a Fused B-Lactone

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Clinical Significance of Prothrombin G20210A Mutation in Homozygous Patients

American Journal of Hematology

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A Novel Missense Mutation of F 9 Gene in Hemophilia B Patients

Journal of Blood Disorders & Transfusion

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Novel Homozygous RARS2 Mutation in Two Siblings Without Pontocerebellar Hypoplasia – Further Expansion of the Phenotypic Spectrum

Orphanet Journal of Rare Diseases

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Multisystem Fatal Infantile Disease Caused by a Novel Homozygous EARS2 Mutation

English