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1 Ergebnisse
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Structural and non-coding variants increase the diagnostic ..:
Alistair T. Pagnamenta
;
Carme Camps
;
Edoardo Giacopuzzi
...
https://doi.org/10.1186/s13073-023-01240-0. , 2023
Link:
https://doi.org/10.1186/s13073-023-01240-0
RT Journal T1
Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases
UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:c9f00f4d0c70402d8c69f3f7e4981fbc&Exemplar=1&LAN=DE A1 Alistair T. Pagnamenta A1 Carme Camps A1 Edoardo Giacopuzzi A1 John M. Taylor A1 Mona Hashim A1 Eduardo Calpena A1 Pamela J. Kaisaki A1 Akiko Hashimoto A1 Jing Yu A1 Edward Sanders A1 Ron Schwessinger A1 Jim R. Hughes A1 Gerton Lunter A1 Helene Dreau A1 Matteo Ferla A1 Lukas Lange A1 Yesim Kesim A1 Vassilis Ragoussis A1 Dimitrios V. Vavoulis A1 Holger Allroggen A1 Olaf Ansorge A1 Christian Babbs A1 Siddharth Banka A1 Benito Baños-Piñero A1 David Beeson A1 Tal Ben-Ami A1 David L. Bennett A1 Celeste Bento A1 Edward Blair A1 Charlotte Brasch-Andersen A1 Katherine R. Bull A1 Holger Cario A1 Deirdre Cilliers A1 Valerio Conti A1 E. Graham Davies A1 Fatima Dhalla A1 Beatriz Diez Dacal A1 Yin Dong A1 James E. Dunford A1 Renzo Guerrini A1 Adrian L. Harris A1 Jane Hartley A1 Georg Hollander A1 Kassim Javaid A1 Maureen Kane A1 Deirdre Kelly A1 Dominic Kelly A1 Samantha J. L. Knight A1 Alexandra Y. Kreins A1 Erika M. Kvikstad A1 Craig B. Langman A1 Tracy Lester A1 Kate E. Lines A1 Simon R. Lord A1 Xin Lu A1 Sahar Mansour A1 Adnan Manzur A1 Reza Maroofian A1 Brian Marsden A1 Joanne Mason A1 Simon J. McGowan A1 Davide Mei A1 Hana Mlcochova A1 Yoshiko Murakami A1 Andrea H. Németh A1 Steven Okoli A1 Elizabeth Ormondroyd A1 Lilian Bomme Ousager A1 Jacqueline Palace A1 Smita Y. Patel A1 Melissa M. Pentony A1 Chris Pugh A1 Aboulfazl Rad A1 Archana Ramesh A1 Simone G. Riva A1 Irene Roberts A1 Noémi Roy A1 Outi Salminen A1 Kyleen D. Schilling A1 Caroline Scott A1 Arjune Sen A1 Conrad Smith A1 Mark Stevenson A1 Rajesh V. Thakker A1 Stephen R. F. Twigg A1 Holm H. Uhlig A1 Richard van Wijk A1 Barbara Vona A1 Steven Wall A1 Jing Wang A1 Hugh Watkins A1 Jaroslav Zak A1 Anna H. Schuh A1 Usha Kini A1 Andrew O. M. Wilkie A1 Niko Popitsch A1 Jenny C. Taylor PB BMC YR 2023 K1 Genome sequencing K1 Rare diseases K1 Structural variant K1 Splice site variant K1 Non-coding K1 Diagnostic yield K1 Medicine K1 R K1 Genetics K1 QH426-470 JF https://doi.org/10.1186/s13073-023-01240-0 LK http://dx.doi.org/https://doi.org/10.1186/s13073-023-01240-0 DO https://doi.org/10.1186/s13073-023-01240-0 SF ELIB - SuUB Bremen
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