未登录Survival and recovery of three shark species in North-East Atlantic recreational fisheries北大西洋休闲渔业中三种鲨鱼物种的存活与恢复
Garzon, Francesco; Abel, Ghalia; Burrett, Ian; Exeter, Owen M.; Hawkes, Lucy A.; Horton, Thomas W.; Lambrette, Mario; Plaster, Alex; Righton, David; Rudd, Hannah; Rudd, Jessica L.; Stewart, Bryce D.; Thomas, Simon; Thorburn, James; Whittaker, Paul S. M.; Witt, Matthew J.
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收藏The international registry for primary ciliary dyskinesia reveals regional variation of genotypes and significant genotype-phenotype correlations国际原发性纤毛运动障碍登记处揭示了基因型的区域差异和显着的基因型-表型相关性
Raidt, Johanna; Riepenhausen, Sarah; Amirav, Israel; Athanazio, Rodrigo A.; Aviram, Micha; Balinotti, Juan E.; Bar-On, Ophir; Bode, Sebastian Fn; Boon, Mieke; Borrelli, Melissa; Carr, Siobhan B.; Crowley, Suzanne; Dehlink, Eleonora; Diepenhorst, Sandra; Durdik, Peter; Dworniczak, Bernd; Emiralioglu, Nagehan; Erdem, Ela; Fonnesu, Rossella; Gracci, Serena; Grosse-Onnebrink, Joerg; Gwozdziewicz, Karolina; Haarman, Eric G.; Hansen, Christine R.; Hogg, Claire; Holgersen, Mathias G.; Julian, Varghese; Kerem, Eitan; Korner, Robert W.; Kotz, Karsten; Kouis, Panayiotis; Loebinger, Michael R.; Lorent, Natalie; Lucas, Jane S.; Maj, Debora; Mall, Marcus A.; Marthin, June K.; Martinu, Vendula; Mazurek, Henryk; Mitchison, Hannah M.; Noethe-Menchen, Tabea; Olbrich, Heike; Ozcelik, Ugur; Pennekamp, Petra; Pifferi, Massimo; Pogorzelski, Andrzej; Ringshausen, Felix C.; Roehmel, Jobst F.; Rovira-Amigo, Sandra; Rumman, Nisreen; Schlegtendal, Anne; Shoemark, Amelia; Kennelly, Synne Sperstad; Staar, Ben; Sutharsan, Sivagurunathan; Thomas, Simon; Ullmann, Nicola; Von Hardenberg, Sandra; Walker, Woolf; Wetzke, Martin; Witt, Michal; Yiallouros, Panayiotis; Zietkiewicz, Ewa; Nielsen, Kim G.; Omran, Heymut
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收藏Secondary (additional) findings from the 100,000 Genomes Project: Disease manifestation, health care outcomes, and costs of disclosure
Nolan, Joshua; Buchanan, James; Taylor, John; Almeida, Joao; Bedenham, Tina; Blair, Edward; Broadgate, Suzanne; Butler, Samantha; Cazeaux, Angela; Craft, Judith; Cranston, Treena; Crawford, Gillian; Forrest, Jamie; Gabriel, Jessica; George, Elaine; Gillen, Donna; Haeger, Ash; Ward, Jillian Hastings; Hawkes, Lara; Hodgkiss, Claire; Hoffman, Jonathan; Jones, Alan; Karpe, Fredrik; Kasperaviciute, Dalia; Kovacs, Erika; Leigh, Sarah; Limb, Elizabeth; Lloyd-Jani, Anjali; Lopez, Javier; Lucassen, Anneke; McFarlane, Carlos; O'Reurke, Anthony W.; Pond, Emily; Sherman, Catherine; Stewart, Helen; Thomas, Ellen; Thomas, Simon; Thomas, Tessy; Thomson, Kate; Wakelin, Hannah; Walker, Susan; Watson, Melanie; Williams, Eleanor; Ormondroyd, Elizabeth
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收藏Evaluating gene-disease relationships in motile ciliopathies: an international ClinGen and BEAT-PCD ERS CRC collaboration.
Crowley, Suzanne; Hankey, William; Elnagheeb, Marwa; Mani, Rahma; Benito, Maria-Ines; Soliman, Rasha; Gomes, Mafalda De Almeida; Ing, Alexander; Abdelwahab, Sabri; Worley, Lindsay; Mcnulty, Shannon; Siew, Justine; Thaxton, Courtney Lynn; Loucks, Catrina M.; Thomas, Simon; Zariwala, Maimoona; Leigh, Margaret; Morris-Rosendahl, Deborah; Zietkiewicz, Ewa; Dell, Sharon; Gaston, Ben; Dworniczak, Bernd; Hirst, Robert; Raidt, Johanna; Nykamp, Keith; Hannah, William; Fassad, Mahmoud; Shoemark, Amelia; Legendre, Marie; Mitchison, Hannah
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收藏Gain- of- function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
Burglen, Lydie; Van Hoeymissen, Evelien; Qebibo, Leila; Barth, Magalie; Belnap, Newell; Boschann, Felix; Depienne, Christel; De Clercq, Katrien; Douglas, Andrew G. L.; Fitzgerald, Mark P.; Foulds, Nicola; Garel, Catherine; Helbig, Ingo; Held, Katharina; Horn, Denise; Janssen, Annelies; Kaindl, Angela M.; Narayanan, Vinodh; Prager, Christina; Rupin-Mas, Mailys; Afenjar, Alexandra; Zhao, Siyuan; Ramaekers, Vincent Th; Ruggiero, Sarah M.; Thomas, Simon; Valence, Stephanie; Van Maldergem, Lionel; Rohacs, Tibor; Rodriguez, Diana; Dyment, David; Voets, Thomas; Vriens, Joris
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收藏Primary ciliary dyskinesia and non-CF bronchiectasis Project
Wheway, Gabrielle; Legebeke, Jelmer; Carr, Siobhan B.; Carroll, Mary; Chetcuti, Philip; Hirst, Robert; Holloway, John; Hunt, David; Kenia, Priti; Loebinger, Michael; Lord, Jenny; Morris-Rosendal, Deborah; Moya, Eduardo; Narayanan, Manjith; O'Callaghan, Christopher; Peckham, Daniel; Robson, Evie; Shoemark, Amelia; Thomas, Simon; Walker, Woolf; Baralle, Diana; Mitchison, Hannah M.; Hogg, Claire; Lucas, Jane
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收藏BRCA1 Circos: a visualisation resource for functional analysis of missense variants
Jhuraney, Ankita; Velkova, Aneliya; Johnson, Randall C.; Kessing, Bailey; Carvalho, Renato S.; Whiley, Phillip; Spurdle, Amanda B.; Vreeswijk, Maaike P. G.; Caputo, Sandrine M.; Millot, Gael A.; Vega, Ana; Coquelle, Nicolas; Galli, Alvaro; Eccles, Diana; Blok, Marinus J.; Pal, Tuya; van der Luijt, Rob B.; Pena, Marta Santamarina; Neuhausen, Susan L.; Donenberg, Talia; Machackova, Eva; Thomas, Simon; Vallee, Maxime; Couch, Fergus J.; Tavtigian, Sean V.; Glover, J. N. Mark; Carvalho, Marcelo A.; Brody, Lawrence C.; Sharan, Shyam K.; Monteiro, Alvaro N.
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