المؤلفون: C. L. van Eyk, D. L. Webber, A. E. Minoche, L. A. Pérez-Jurado, M. A. Corbett, A. E. Gardner, J. G. Berry, K. Harper, A. H. MacLennan, J. Gecz

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2056-7944

URL الوصول: https://doaj.org/article/61a54edbe47743da93200c28f491089b

المؤلفون: Luis A. Pérez-Jurado, Kelly Harper, Jozef Gecz, C. L. van Eyk, A. E. Minoche, Jesia G. Berry, Mark A. Corbett, Alastair H. MacLennan, Alison Gardner, Dani L. Webber

المصدر: npj Genomic Medicine, Vol 6, Iss 1, Pp 1-11 (2021)
NPJ Genomic Medicine

مصطلحات موضوعية: Proband, medicine.medical_specialty, Genetic testing, Hereditary spastic paraplegia, QH426-470, Article, Cerebral palsy, Internal medicine, Neonatal brain damage, Genetics, Medicine, Copy-number variation, Molecular Biology, Genetics (clinical), Whole genome sequencing, Molecular medicine, medicine.diagnostic_test, business.industry, Neurodevelopmental disorders, medicine.disease, Cohort, Medical genetics, business, Medical genomics

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da39bc3a1f943ac688f055c11574ae0
https://doaj.org/article/61a54edbe47743da93200c28f491089b

المؤلفون: Mark A. Corbett, Gai L McMichael, C. L. van Eyk, Jozef Gecz, Alastair H. MacLennan, Dani L. Webber, Joshua A. Woenig, Kelly Harper, Morgan Newman, Jesia G. Berry, Bryan P. Haines, Mahalia S.B. Frank

المصدر: NPJ Genomic Medicine
npj Genomic Medicine, Vol 4, Iss 1, Pp 1-11 (2019)

مصطلحات موضوعية: 0301 basic medicine, Candidate gene, Genetic testing, lcsh:QH426-470, lcsh:Medicine, Biology, Article, Cerebral palsy, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Genetics, medicine, Clinical significance, Molecular Biology, Gene, Genetics (clinical), Disease burden, KIF1A, Molecular medicine, medicine.diagnostic_test, lcsh:R, Neurodevelopmental disorders, medicine.disease, Paediatric neurological disorders, lcsh:Genetics, 030104 developmental biology, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9fb3fb7289dab84380e9b39c3bcc6ad
https://doi.org/10.1038/s41525-019-0101-z

المؤلفون: C L, van Eyk, M A, Corbett, A H, Maclennan

المصدر: Handbook of clinical neurology. 147

مصطلحات موضوعية: Cerebral Palsy, Genetic Variation, Humans, Sequence Analysis, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::f05b100f3954cf74f051b5f8b8da806b
https://pubmed.ncbi.nlm.nih.gov/29325622

المؤلفون: C. L. van Eyk, Alastair H. MacLennan, Mark A. Corbett

مصطلحات موضوعية: 0301 basic medicine, Heterogeneous group, business.industry, MEDLINE, Genetic variants, medicine.disease, Bioinformatics, Cerebral palsy, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Etiology, Medicine, Copy-number variation, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f61e95454958ea060a830ec73f3a81c0
https://doi.org/10.1016/b978-0-444-63233-3.00022-1

المؤلفون: Gai L McMichael, Suzanna C. Thompson, Alastair H. MacLennan, Catriona Reynolds, C. L. van Eyk, Shalini N. Jhangiani, Eric Haan, Harshavardhan Doddapaneni, Donna M. Muzny, Richard A. Gibbs, R Russo, David L. Adelson, Jozef Gecz, B W M van Bon, Lam Son Nguyen, Michael O'Callaghan, Mark A. Corbett, Matthew N. Bainbridge, Alison Gardner, Jessica L. Broadbent

المصدر: Molecular Psychiatry, 20, 2, pp. 176-82
Molecular Psychiatry, 20, 176-82

مصطلحات موضوعية: Adult, Male, Parents, L1, Gestational Age, Biology, Cerebral palsy, Cohort Studies, Cellular and Molecular Neuroscience, Genetic Heterogeneity, medicine, Animals, Humans, Exome, Genetic Predisposition to Disease, Molecular Biology, Gene, X chromosome, Exome sequencing, Gene Library, Genetics, Genetic heterogeneity, Cerebral Palsy, Sequence Analysis, DNA, medicine.disease, Psychiatry and Mental health, Behavioral medicine, Mutation, Female, Function (biology), Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2a20af0ae66eae90cb1ec0abe11548d
https://hdl.handle.net/2066/154458

المؤلفون: S E, Samaraweera, L V, O'Keefe, C L, van Eyk, K T, Lawlor, D T, Humphreys, C M, Suter, R I, Richards

المصدر: Methods in molecular biology (Clifton, N.J.). 1017

مصطلحات موضوعية: Disease Models, Animal, Drosophila melanogaster, Cytotoxins, Tandem Repeat Sequences, Animals, Heredodegenerative Disorders, Nervous System, Humans, RNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::8d986369bfaf1d2188a71f9b1d3323e4
https://pubmed.ncbi.nlm.nih.gov/23719916

المؤلفون: C. L. van Eyk, Catherine M. Suter, Kynan T. Lawlor, Louise V. O'Keefe, Robert I. Richards, David T. Humphreys, Saumya E. Samaraweera

المصدر: Methods in Molecular Biology ISBN: 9781627034371

مصطلحات موضوعية: Genetics, Small RNA, Neurodegeneration, medicine, Spinocerebellar ataxia, Coding region, RNA, Polyglutamine tract, Biology, medicine.disease, Trinucleotide repeat expansion, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::8ad982c28c59b6fea122ac7358acea05
https://doi.org/10.1007/978-1-62703-438-8_13

المؤلفون: C J, van Ginkel, A T, Dijkstra, C L, van Eyk, C W, den Hengst, C A, Bruijnzeel-Koomen

المصدر: Nederlands tijdschrift voor geneeskunde. 141(16)

مصطلحات موضوعية: Adult, Male, Occupational Diseases, Hypersensitivity, Respiratory Hypersensitivity, Humans, Female, Middle Aged, Plants, Dermatitis, Contact

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::519540e25a4a911eba15a9c782f9d964
https://pubmed.ncbi.nlm.nih.gov/9213800