Results 81 to 90 of about 11,425 (118)
Long-read genome sequencing enhances diagnostics of pediatric neurological disorders. [PDF]
Genome MedEk M, Kvarnung M, Ten Berk de Boer E, La Fleur L, Ljöstad L, Lyander A, Faergeman SL, Drue SO, Thonberg H, Nordgren A, Soller MJ, Wirta V, Eisfeldt J, Lindstrand A. +13 moreeuropepmc +1 more sourceThe genome sequence of a longhorn beetle, <i>Stictoleptura scutellata</i> (Fabricius, 1781) (Coleoptera: Cerambycidae). [PDF]
Wellcome Open ResCrellin S, Natural History Museum Genome Acquisition Lab, Darwin Tree of Life Barcoding Collective, Wellcome Sanger Institute Tree of Life Management, Samples and Laboratory team, Wellcome Sanger Institute Scientific Operations: Sequencing Operations, Wellcome Sanger Institute Tree of Life Core Informatics team, Tree of Life Core Informatics collective, Darwin Tree of Life Consortium. +8 moreeuropepmc +1 more sourceThe genome sequence of the Ribwort slender, Aspilapteryx tringipennella (Zeller, 1839) (Lepidoptera: Gracillariidae). [PDF]
Wellcome Open ResSims I, Hutchinson F, Crowley LM, Natural History Museum Genome Acquisition Lab, University of Oxford and Wytham Woods Genome Acquisition Lab, Darwin Tree of Life Barcoding Collective, Wellcome Sanger Institute Tree of Life Management, Samples and Laboratory team, Wellcome Sanger Institute Scientific Operations: Sequencing Operations, Wellcome Sanger Institute Tree of Life Core Informatics team, Tree of Life Core Informatics collective, Darwin Tree of Life Consortium. +11 moreeuropepmc +1 more sourceGenome-wide profiling of highly similar paralogous genes using HiFi sequencing. [PDF]
Nat CommunChen X, Baker D, Dolzhenko E, Devaney JM, Noya J, Berlyoung AS, Brandon R, Hruska KS, Lochovsky L, Kruszka P, Newman S, Farrow E, Thiffault I, Pastinen T, Kasperaviciute D, Gilissen C, Vissers L, Hoischen A, Berger S, Vilain E, Délot E, UCI Genomics Research to Elucidate the Genetics of Rare diseases (UCI GREGoR) Consortium, Eberle MA. +22 moreeuropepmc +1 more sourceDe novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa. [PDF]
Nat GenetQuinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barakat TS, Barboni MTS, Bauwens M, Ben-Yosef T, Bernard V, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Bremond-Gignac D, Britten-Jones AC, Bujakowska KM, Burin des Roziers C, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Chadderton N, Charbel Issa P, Coutinho-Santos L, Daiger SP, De Baere E, De Bruyne M, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fenner BJ, Fernández-Caballero L, Ferraz Sallum JM, Gana S, Garanto A, Gardner JC, Gilissen C, Gonzàlez-Duarte R, Goto K, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoefsloot LH, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB, Inglehearn CF, Iwata T, Jensson BO, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Klaver CCW, Knézy K, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leibu R, Leroy BP, Liskova P, Lopez I, López-Rodríguez VRJ, Mahieu Q, Mahroo OA, Manes G, Mansard L, Martín-Gutiérrez MP, Martins N, Mauring L, McKibbin M, McLaren TL, Meunier I, Michaelides M, Millán JM, Mizobuchi K, Mukherjee R, Nagy ZZ, Neveling K, Ołdak M, Oorsprong M, Pan Y, Papachristou A, Percesepe A, Pfau M, Pierce EA, Place E, Ramesar R, Ramond F, Rasquin FA, Rice GI, Roberts L, Rodríguez-Hidalgo M, Ruiz-Ederra J, Sabir AH, Sajiki AF, Sánchez-Barbero AI, Sarma AS, Sangermano R, Santos CM, Scarpato M, Scholl HPN, Sharon D, Signorini SG, Simonelli F, Sousa AB, Stefaniotou M, Stefansson K, Stingl K, Suga A, Sulem P, Sullivan LS, Szabó V, Szaflik JP, Taurina G, Thiadens AAHJ, Toomes C, Tran VH, Tsilimbaris MK, Tsoka P, Vaclavik V, Vajter M, Valeina S, Valente EM, Valentine C, Valero R, Valleix S, van Aerschot J, van den Born LI, Van Heetvelde M, Verhoeven VJM, Vincent AL, Webster AR, Whelan L, Wissinger B, Yioti GG, Yoshitake K, Zenteno JC, Zeuli R, Zuleger T, Landau C, Jacob AI, Lin S, Cremers FPM, Lee W, Ellingford JM, Stanek D, Roosing S, Rivolta C. +187 moreeuropepmc +1 more source