Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ingrid MBH. van de Laar"'
Autor:
Maggie MK Wong, Rosalie A Kampen, Ruth O Braden, Gökberk Alagöz, Michael S Hildebrand, Christopher Barnett, Meghan Barnett, Alfredo Brusco, Diana Carli, Bert BA de Vries, Alexander JM Dingemans, Frances Elmslie, Giovanni B Ferrero, Nadieh A Jansen, Ingrid MBH van de Laar, Alice Moroni, David Mowat, Lucinda Murray, Francesca Novara, Angela Peron, Ingrid E Scheffer, Fabio Sirchia, Samantha J Turner, Aglaia Vignoli, Arianna Vino, Sacha Weber, Wendy K Chung, Marion Gerard, Vanessa López-González, Elizabeth Palmer, Angela T Morgan, Bregje W van Bon, Simon E Fisher
Publikováno v:
medRxiv
Germline de novo SETBP1 variants cause clinically distinct and heterogeneous neurodevelopmental disorders. Heterozygous missense variants at a hotspot encoding a canonical degron lead to SETBP1 accumulation and Schinzel-Giedion syndrome (SGS), a rare
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d78967a32ce84431daf9ab39c0fd6033
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7
https://hdl.handle.net/21.11116/0000-000B-3051-321.11116/0000-000B-304F-7
Autor:
Marlies JE. Kempers, Marja Wessels, An Van Berendoncks, Ingrid MBH. van de Laar, Nicole de Leeuw, Bart Loeys
Publikováno v:
European journal of medical genetics
European Journal of Medical Genetics, 65(10):104593. Elsevier Masson
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 10
European Journal of Medical Genetics, 65(10):104593. Elsevier Masson
European Journal of Medical Genetics, 65
European Journal of Medical Genetics, 65, 10
Contains fulltext : 284810.pdf (Publisher’s version ) (Open Access) INTRODUCTION: The diagnosis of Ehlers-Danlos syndrome is usually based on well-defined diagnostic criteria and the result of DNA investigation. Classical (cEDS) and vascular type (
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d318954a8292f571c51a31d046f122ca
https://hdl.handle.net/10067/1935890151162165141
https://hdl.handle.net/10067/1935890151162165141
