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Publications by Janine Kemming

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

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

Multidisciplinary

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

Frontiers in Physiology

English

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

Multidisciplinary

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Pyogenic Bacterial Infections in Humans With MyD88 Deficiency

English

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

Molecular Psychiatry

Molecular Neuroscience

Molecular Biology

English

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

Molecular Biology

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

Case Reports in Pediatrics

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Transcobalamin II Deficiency in Four Cases With Novel Mutations

Turkish Journal of Haematology

English

APC Mutations in Colorectal Tumors With Mismatch Repair Deficiency.

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

Multidisciplinary

English