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1 Ergebnisse
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Comprehensive Rare Variant Analysis via Whole-Genome Sequen..:
Carss, Keren J
;
Arno, Gavin
;
Erwood, Marie
...
qt813320tz. , 2017
Link:
https://escholarship.org/uc/item/813320tz
RT Journal T1
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt813320tz&Exemplar=1&LAN=DE A1 Carss, Keren J A1 Arno, Gavin A1 Erwood, Marie A1 Stephens, Jonathan A1 Sanchis-Juan, Alba A1 Hull, Sarah A1 Megy, Karyn A1 Grozeva, Detelina A1 Dewhurst, Eleanor A1 Malka, Samantha A1 Plagnol, Vincent A1 Penkett, Christopher A1 Stirrups, Kathleen A1 Rizzo, Roberta A1 Wright, Genevieve A1 Josifova, Dragana A1 Bitner-Glindzicz, Maria A1 Scott, Richard H A1 Clement, Emma A1 Allen, Louise A1 Armstrong, Ruth A1 Brady, Angela F A1 Carmichael, Jenny A1 Chitre, Manali A1 Henderson, Robert HH A1 Hurst, Jane A1 MacLaren, Robert E A1 Murphy, Elaine A1 Paterson, Joan A1 Rosser, Elisabeth A1 Thompson, Dorothy A A1 Wakeling, Emma A1 Ouwehand, Willem H A1 Michaelides, Michel A1 Moore, Anthony T A1 Consortium, NIHR-BioResource Rare Diseases A1 Aitman, Timothy A1 Alachkar, Hana A1 Ali, Sonia A1 Allsup, David A1 Ambegaonkar, Gautum A1 Anderson, Julie A1 Antrobus, Richard A1 Arumugakani, Gururaj A1 Ashford, Sofie A1 Astle, William A1 Attwood, Antony A1 Austin, Steve A1 Bacchelli, Chiara A1 Bakchoul, Tamam A1 Bariana, Tadbir K A1 Baxendale, Helen A1 Bennett, David A1 Bethune, Claire A1 Bibi, Shahnaz A1 Bleda, Marta A1 Boggard, Harm A1 Bolton-Maggs, Paula A1 Booth, Claire A1 Bradley, John R A1 Brady, Angie A1 Brown, Matthew A1 Browning, Michael A1 Bryson, Christine A1 Burns, Siobhan A1 Calleja, Paul A1 Canham, Natalie A1 Carss, Keren A1 Caulfield, Mark A1 Chalmers, Elizabeth A1 Chandra, Anita A1 Chinnery, Patrick A1 Church, Colin A1 Clements-Brod, Naomi A1 Clowes, Virginia A1 Coghlan, Gerry A1 Collins, Peter A1 Cooper, Nichola A1 Creaser-Myers, Amanda A1 DaCosta, Rosa A1 Daugherty, Louise A1 Davies, Sophie A1 Davis, John A1 De Vries, Minka A1 Deegan, Patrick A1 Deevi, Sri VV A1 Deshpande, Charu A1 Devlin, Lisa A1 Doffinger, Rainer A1 Dormand, Natalie A1 Drewe, Elizabeth A1 Edgar, David PB eScholarship, University of California YR 2017 K1 Genetics K1 Neurosciences K1 Eye Disease and Disorders of Vision K1 Human Genome K1 Clinical Research K1 2.1 Biological and endogenous factors K1 Aetiology K1 Eye K1 Good Health and Well Being K1 Adaptor Proteins K1 Signal Transducing K1 Alleles K1 Base Sequence K1 Choroideremia K1 DNA Mutational Analysis K1 Ethnicity K1 Exome K1 Female K1 Genes K1 Recessive K1 Genetic Variation K1 Genome K1 Human K1 Humans K1 Introns K1 Male K1 Mutation K1 Rare Diseases K1 Retinal Diseases K1 NIHR-BioResource Rare Diseases Consortium K1 copy-number variants K1 rare sequence variant K1 retinal dystrophy K1 whole-genome sequence K1 Biological Sciences K1 Medical and Health Sciences K1 Genetics & Heredity JF qt813320tz LK http://dx.doi.org/https://escholarship.org/uc/item/813320tz DO https://escholarship.org/uc/item/813320tz SF ELIB - SuUB Bremen
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