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Publications by Desirée Schubert

Plasma Cell Deficiency in Humans With Heterozygous Mutations in SEC61A1

Journal of Allergy and Clinical Immunology

English

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Cortisone-Reductase Deficiency Associated With Heterozygous Mutations in 11 -Hydroxysteroid Dehydrogenase Type 1

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Heterozygous Mylk3 Knockout Mice Partially Recapitulate Human DCM With Heterozygous MYLK3 Mutations

Frontiers in Physiology

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B-Cell Activating Factor Receptor Deficiency Is Associated With an Adult-Onset Antibody Deficiency Syndrome in Humans

Proceedings of the National Academy of Sciences of the United States of America

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Pyogenic Bacterial Infections in Humans With MyD88 Deficiency

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Molecular and Phenotypic Abnormalities in Individuals With Germline Heterozygous PTEN Mutations and Autism

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Lineage Tracing in Humans Enabled by Mitochondrial Mutations and Single-Cell Genomics

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Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient With Alagille Syndrome

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Transcobalamin II Deficiency in Four Cases With Novel Mutations

Turkish Journal of Haematology

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APC Mutations in Colorectal Tumors With Mismatch Repair Deficiency.

Proceedings of the National Academy of Sciences of the United States of America

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