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Publications by Magnus Nordenskjöld

Gain-Of-Function Mutation of microRNA-140 in Human Skeletal Dysplasia

Nature Medicine
BiochemistryMedicineGeneticsMolecular Biology
2019English

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

American Journal of Human Genetics
Genetics
2014English

Comparison of Primary Human Cytotoxic T-Cell and Natural Killer Cell Responses Reveal Similar Molecular Requirements for Lytic Granule Exocytosis but Differences in Cytokine Production

Blood
BiochemistryImmunologyCell BiologyHematology
2013English

Hemophagocytic Lymphohistiocytosis in 2 Patients With Underlying IFN-γ Receptor Deficiency

Journal of Allergy and Clinical Immunology
AllergyImmunology
2015English

Front Cover

Clinical Genetics
Genetics
2018English

Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19

Cerebellum
MedicineNeurology
2018English

Ehlers-Danlos Syndrome With Severe Early-Onset Periodontal Disease (EDS-VIII) Is a Distinct, Heterogeneous Disorder With One Predisposition Gene at Chromosome 12p13

American Journal of Human Genetics
Genetics
2003English

Birt-Hogg-Dubé Syndrome: Mapping of a Novel Hereditary Neoplasia Gene to Chromosome 17p12-Q11.2

Oncogene
Cancer ResearchGeneticsMolecular Biology
2001English

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