Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Imane Baatout"'
Autor:
Ronald van Beek, Caroline Schluth-Bolard, Jean Michel Dupont, Tuomo Mantere, Michiel Oorsprong, Alexander Hoischen, Marc Pauper, Dominique Smeets, Kornelia Neveling, Laila El Khattabi, Céline Pebrel-Richard, Marion Benoist, Marian Stevens-Kroef, Aziza Lebbar, Tony Yammine, Imane Baatout, Faten Hsoumi, Guillaume van der Zande, Damien Sanlaville, Ellen Kater-Baats, Daniel Olde-Weghuis, Wed Majdali, Susan Vermeulen
Publikováno v:
American Journal of Human Genetics, 108, 8, pp. 1409-1422
Am J Hum Genet
American Journal of Human Genetics, 108, 1409-1422
Am J Hum Genet
American Journal of Human Genetics, 108, 1409-1422
Chromosomal aberrations including structural variations (SVs) are a major cause of human genetic diseases. Their detection in clinical routine still relies on standard cytogenetics. Drawbacks of these tests are a very low resolution (karyotyping) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d61049c35b3e99e012cc69e4f06a0f35
https://repository.ubn.ru.nl/handle/2066/236917
https://repository.ubn.ru.nl/handle/2066/236917
Autor:
Tuomo Mantere, Laila El Khattabi, Céline Pebrel-Richard, Alexander Hoischen, Marian Stevens-Kroef, Susan Vermeulen, Caroline Schluth-Bolard, Tony Yammine, Michiel Oorsprong, Marion Benoist, Aziza Lebbar, Dominique Smeets, Kornelia Neveling, Ronald van Beek, Jean Michel Dupont, Damien Sanlaville, Guillaume van der Zande, Marc Pauper, Ellen Kater-Baats, Daniel Olde-Weghuis, Imane Baatout, Wed Majdali
Chromosomal aberrations and structural variations are a major cause of human genetic diseases. Their detection in clinical routine still relies on standard cytogenetics, karyotyping and CNV-microarrays, in spite of the low resolution of the first one
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3de8e5628ea67fb1ec3cfa08a4a03583
https://doi.org/10.1101/2020.07.15.205245
https://doi.org/10.1101/2020.07.15.205245
Autor:
Laila El Khattabi, Marc Pauper, Ronald van Beek, Tony Yammine, Tuomo Mantere, Michiel Oorsprong, Caroline Schluth-Bolard, Alexander Hoischen, Kornelia Neveling, Guillaume van der Zande, Susan Vermeulen, Marian Stevens-Kroef, Dominique Smeets, Jean-Michel Dupont, Daniel Olde-Weghuis, Ellen Kater-Baats, Wed Majdali, Céline Richard, Damien Sanlaville, Marion Benoist, Aziza Lebbar, Imane Baatout
Publikováno v:
Molecular Genetics and Metabolism. 132:S263
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::10f4aed3d2f23c567e10a7a48189e4db
https://doi.org/10.1016/s1096-7192(21)00487-x
https://doi.org/10.1016/s1096-7192(21)00487-x
