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Publications by Jacek Majewski
Mutations in ABCD4 Cause a New Inborn Error of Vitamin B12 Metabolism
Nature Genetics
Genetics
Corrigendum: Driver Mutations in Histone H3.3 and Chromatin Remodelling Genes in Paediatric Glioblastoma
Nature
Multidisciplinary
Mutations in SETD2 and Genes Affecting Histone H3K36 Methylation Target Hemispheric High-Grade Gliomas
Acta Neuropathologica
Forensic Medicine
Molecular Neuroscience
Pathology
Neurology
Cellular
Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome
American Journal of Human Genetics
Genetics
Causative Mutations and Mechanism of Androgenetic Hydatidiform Moles
American Journal of Human Genetics
Genetics
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis
American Journal of Human Genetics
Genetics
X-Linked Primary Immunodeficiency Associated With Hemizygous Mutations in the Moesin (MSN) Gene
Journal of Allergy and Clinical Immunology
Allergy
Immunology
A Region-Based Gene Association Study Combined With a Leave-One-Out Sensitivity Analysis Identifies SMG1 as a Pancreatic Cancer Susceptibility Gene
PLoS Genetics
Evolution
Ecology
Genetics
Molecular Biology
Cancer Research
Systematics
Behavior
GeneMatcher Aids in the Identification of a New Malformation Syndrome With Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants inHNRNPK
Human Mutation
Genetics
Meconium Ileus in a Lebanese Family Secondary to Mutations in the GUCY2C Gene
European Journal of Human Genetics
Genetics
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