Author: Peter G. J. Nikkels

0000000000481839

AUTHOR

Peter G. J. Nikkels

showing 2 related works from this author

Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects

2014

et al.

MaleBiologyBone and BonesCollagen Type IBone morphogenetic protein 1Bone Morphogenetic Protein 1Extracellular matrixWestern blotBone DensityGeneticsmedicineHumansProtein precursorGenetics (clinical)medicine.diagnostic_testInfant NewbornInfantFibroblastsOsteogenesis Imperfectamedicine.diseaseMolecular biologyExtracellular MatrixRadiographyProcollagen peptidaseCollagen type I alpha 1PhenotypeOsteogenesis imperfectaMutationType I collagen

researchProduct

Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy

2019

Supplemental Digital Content is available in the text.

0301 basic medicineLysine-tRNA LigaseMalePathologyMagnetic Resonance SpectroscopyMedizinmembrane proteins030204 cardiovascular system & hematologyMitochondrionDeafnessmedicine.disease_causeCompound heterozygosityCorrectionsLeukoencephalopathyMyelin0302 clinical medicineCytosolLeukoencephalopathies030212 general & internal medicineOvarian DiseasesTransfer RNA AminoacylationChildZebrafishMUTATIONExome sequencing10012MutationBrainMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]General MedicineMiddle AgedDisorders of movement Donders Center for Medical Neuroscience [Radboudumc 3]Magnetic Resonance ImagingMitochondriaProtein Transportendoplasmic reticulummedicine.anatomical_structureChild PreschoolTransfer RNAComputingMethodologies_DOCUMENTANDTEXTPROCESSING/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Biological AssayFemaleWRBRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Adultcardiomyopathiesmedicine.medical_specialtyMitochondrial diseaseAminoacylationMuscle disorderBiologyArticleMEDIATES INSERTIONAmino Acyl-tRNA Synthetases03 medical and health sciencesSDG 3 - Good Health and Well-beingmedicineAnimalsPoint MutationHumansAmino Acid SequenceAlleleAllelesCOMPLEXGenetic heterogeneitybusiness.industryArsenite Transporting ATPasesLeukodystrophyGenetic Variation10090Original ArticlesZebrafish Proteinsbiology.organism_classificationDILATED CARDIOMYOPATHYmedicine.diseasezebrafishGENEMolecular biologyDisease Models Animal030104 developmental biologyMembrane protein[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics10084Neurology (clinical)Transfer RNA AminoacylationMEMBRANEbusinessSequence Alignment030217 neurology & neurosurgeryexomeNeurology

researchProduct

PEPhysical Sciences and Engineering
- PE2Fundamental Constituents of Matter
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SHSocial Sciences and Humanities
- SH2Institutions, Governance and Legal Systems
  - SH2_1Political systems, governance
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  - SH4_2Personality and social cognition; emotion
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  - SH4_9Theoretical linguistics; computational linguistics
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- SH6The Study of the Human Past
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  - SH6_11Global, transnational, and comparative history
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  - SH5_3Book studies
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  - SH5_7Philosophy of science, epistemology, logic
  - SH5_8Metaphysics, philosophical anthropology; aesthetics
  - SH5_9Ethics and its applications; social philosophy
  - SH5_10History of philosophy
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  - SH5_2Theory and history of literature, comparative literature
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  - SH7_2Migration
  - SH7_1Human, economic and social geography
  - SH7_3Population dynamics: households, family and fertility
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  - SH7_4Social aspects of health, ageing and society
  - SH7_6Environmental and climate change, societal impact and policy
  - SH7_7Cities; urban, regional and rural studies
  - SH7_8Land use and planning
  - SH7_10GIS, spatial analysis; digital geography
  - SH7_9Energy, transportation and mobility
- SH8Studies of Cultures and Arts
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  - SH8_2Religious studies, ritual; symbolic representation
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  - SH8_5History of art and of architecture
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  - SH8_8Visual and performing arts, screen, arts-based research
  - SH8_9Digital approaches to anthropology, cultural studies and art