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1 Ergebnisse
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Copy-number analysis from genome sequencing data of 11,754 ..:
Olinger, Eric
;
Wilson, Ian J.
;
Orr, Sarah
...
Genetics in Medicine Open. 2 (2024) - p. 101834 , 2024
Link:
https://doi.org/10.1016/j.gimo.2024.101834
RT Journal T1
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.gimo.2024.101834&Exemplar=1&LAN=DE A1 Olinger, Eric A1 Wilson, Ian J. A1 Orr, Sarah A1 Barroso-Gil, Miguel A1 Neatu, Ruxandra A1 Ambrose, John C. A1 Arumugam, Prabhu A1 Bevers, Roel A1 Bleda, Marta A1 Boardman-Pretty, Freya A1 Boustred, Christopher R. A1 Brittain, Helen A1 Caulfield, Mark J. A1 Chan, Georgia C. A1 Elgar, Greg A1 Fowler, Tom A1 Giess, Adam A1 Hamblin, Angela A1 Henderson, Shirley A1 Hubbard, Tim J.P. A1 Jackson, Rob A1 Jones, Louise J. A1 Kasperaviciute, Dalia A1 Kayikci, Melis A1 Kousathanas, Athanasios A1 Lahnstein, Lea A1 Leigh, Sarah E.A. A1 Leong, Ivonne U.S. A1 Lopez, Javier F. A1 Maleady-Crowe, Fiona PB Elsevier BV YR 2024 SN 2949-7744 JF Genetics in Medicine Open VO 2 SP 101834 LK http://dx.doi.org/https://doi.org/10.1016/j.gimo.2024.101834 DO https://doi.org/10.1016/j.gimo.2024.101834 SF ELIB - SuUB Bremen
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