학술논문
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses
Document Type
Article
Author
Hammarsjö, A.; Pettersson, M.; Anderlid, B.-M.; Lagerstedt-Robinson, K.; Taylan, F.; Nordgren, A.; Lindstrand, A.; Grigelioniene, G.; Chitayat, D.; Handa, A.; Bartocci, M.; Basel, D.; Batkovskyte, D.; Horemuzova, E.; Nishimura, G.; Beleza-Meireles, A.; Conner, P.; Eisfeldt, J.; Nilsson, D.; Girisha, K.M.; Nayak, S.S.; Chung, B.H.-Y.; Hyodo, H.; Ohashi-Fukuda, N.; Korņejeva, L.; Lin, A.E.; Magnusson, M.; Stranneheim, H.; Wirta, V.; Moosa, S.; Ohashi, H.; Traberg, R.; Voss, U.
Source
In: Journal of Human Genetics . (Journal of Human Genetics, October 2021, 66(10):995-1008)
Subject
Language
English
ISSN
1435232X
14345161
14345161