المؤلفون: Mariëtte J.V. Hoffer, Cacha M.P.C.D. Peeters-Scholte, Ruben S G M Witlox, Mark van Roosmalen, Nicolette S. den Hollander, Kerstin Hansson, Claudia A. L. Ruivenkamp, Yvonne Hilhorst-Hofstee, Wigard P. Kloosterman, Ratna N G B Tan, Gijs W. E. Santen

المصدر: American Journal of Medical Genetics. Part A, 167(8), 1884. Wiley-Liss Inc.
American Journal of Medical Genetics Part A, 167(8), 1884-1889

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Case Reports, Biology, Germline, Chromosome 19, Gene duplication, Chromosome Duplication, medicine, Genetics, Journal Article, Humans, Genetics(clinical), Copy-number variation, Refractory edema, Genetics (clinical), Congenital heart disease, Mate-pair sequencing, medicine.diagnostic_test, Breakpoint, Infant, Newborn, chromosome 19 duplication and deletion, congenital heart disease, Respiratory failure, Chromosome 19 duplication and deletion, Tandem exon duplication, mate-pair sequencing, Chromosome Deletion, Chromosomes, Human, Pair 19, refractory edema, Fluorescence in situ hybridization

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::994369d3b2f241ea54a9b45bebfa4183
https://hdl.handle.net/1887/107370

المؤلفون: Tan, Ratna N G B, Witlox, Ruben S G M, Hilhorst-Hofstee, Yvonne, Peeters-Scholte, Cacha M P C D, den Hollander, Nicolette S., Ruivenkamp, Claudia A L, Hoffer, Mariëtte J V, Hansson, Kerstin B., van Roosmalen, Mark J., Kloosterman, Wigard P., Santen, Gijs W E

المساهمون: CMM Groep Kloosterman, Child Health, Cancer

مصطلحات موضوعية: Chromosome 19 duplication and deletion, Congenital heart disease, Mate-pair sequencing, Refractory edema, Genetics(clinical), Genetics, Case Reports, Journal Article

وصف الملف: application/pdf

Relation: https://dspace.library.uu.nl/handle/1874/332597

الاتاحة: https://dspace.library.uu.nl/handle/1874/332597

المؤلفون: Tan, R.N.G.B., Witlox, R.S.G.M., Hilhorst-Hofstee, Y., Peeters-Scholte, C.M.P.C.D., Hollander, N.S. den, Ruivenkamp, C.A.L., Hoffer, M.J.V., Hansson, K.B., Roosmalen, M.J. van, Kloosterman, W.P., Santen, G.W.E.

المصدر: American Journal of Medical Genetics Part A

مصطلحات موضوعية: chromosome 19 duplication and deletion, mate-pair sequencing, congenital heart disease, refractory edema

Relation: lumc-id: 4293635; https://hdl.handle.net/1887/107370

الاتاحة: https://hdl.handle.net/1887/107370
https://doi.org/10.1002/ajmg.a.37076