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Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test resultsPlon, Sharon E ; Eccles, Diana M ; Easton, Douglas ; Foulkes, William D ; Genuardi, Maurizio ; Greenblatt, Marc S ; Hogervorst, Frans B.L ; Hoogerbrugge, Nicoline ; Spurdle, Amanda B ; Tavtigian, Sean VHuman mutation, 2008-11, Vol.29 (11), p.1282-1291 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Genetic evidence and integration of various data sources for classifying uncertain variants into a single modelGoldgar, David E ; Easton, Douglas F ; Byrnes, Graham B ; Spurdle, Amanda B ; Iversen, Edwin S ; Greenblatt, Marc SHuman mutation, 2008-11, Vol.29 (11), p.1265-1272 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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In silico analysis of missense substitutions using sequence-alignment based methodsTavtigian, Sean V ; Greenblatt, Marc S ; Lesueur, Fabienne ; Byrnes, Graham BHuman mutation, 2008-11, Vol.29 (11), p.1327-1336 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Prediction and assessment of splicing alterations: implications for clinical testingSpurdle, Amanda B ; Couch, Fergus J ; Hogervorst, Frans B.L ; Radice, Paolo ; Sinilnikova, Olga MHuman mutation, 2008-11, Vol.29 (11), p.1304-1313 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Potential diagnostic consequences of applying non‐invasive prenatal testing: population‐based study from a country with existing first‐trimester screeningPetersen, O. B. ; Vogel, I. ; Ekelund, C. ; Hyett, J. ; Tabor, A. ; Christiansen, Marianne ; Farlie, Richard ; Hoseth, Eva ; Ibsen, Mette Holm ; Jensen, Hanne Søndergaard ; Jørgensen, Finn Stener ; Larsen, Torben ; Olesen, Annette Wind ; Østergaard, Marianne ; Pouplier, Susanne ; Shalmi, Anne‐Cathrine ; Skibsted, Lillian ; Sperling, Lene ; Sundberg, Karin ; Zingenberg, Helle ; Bojesen, Anders ; Fagerberg, Christina ; Jensen, Peter Kjestrup Axel ; Petersen, Michael Bjørn ; Timshel, SusanneUltrasound in obstetrics & gynecology, 2014-03, Vol.43 (3), p.265-271 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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Small bowel obstruction, incisional hernia and survival after laparoscopic and open colonic resection (LAFA study)Bartels, S. A. L. ; Vlug, M. S. ; Hollmann, M. W. ; Dijkgraaf, M. G. W. ; Ubbink, D. T. ; Cense, H. A. ; van Wagensveld, B. A. ; Engel, A. F. ; Gerhards, M. F. ; Bemelman, W. A.British journal of surgery, 2014-08, Vol.101 (9), p.1153-1159 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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Material Type: Artigo
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Women receiving massive transfusion due to postpartum hemorrhage: A comparison over time between two nationwide cohort studiesRamler, Paul I. ; Akker, Thomas ; Henriquez, Dacia D. C. A. ; Zwart, Joost J. ; Roosmalen, Jos ; Lith, Jan M. M. ; Bom, Johanna G. ; Loeff, R.M. ; Goeverden, R.J. ; Eijlers, B. ; Hillebrand, A. ; Spelmin, S.E. ; Beunder, T.J. ; Harskamp, V. ; Wind, M. ; Koning, M.D ; Cramer, R.A. ; Veenstra, A. ; Smith, S.M. ; Ensing, E.E. ; Caram‐Deelder, C. ; Pors, A. ; Brussel‐de Groot, C.J. ; Zouitni, O. ; Kolster‐Bijdevaate, C. ; Bourgonje‐Verhart, M.S ; Bleeker Taborh, C.E. ; Roos‐van Milligen, E.Acta obstetricia et gynecologica Scandinavica, 2019-06, Vol.98 (6), p.795-804 [Periódico revisado por pares]United States: John Wiley & Sons, IncTexto completo disponível |
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Material Type: Artigo
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Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significanceHofstra, Robert M.W ; Spurdle, Amanda B ; Eccles, Diana ; Foulkes, William D ; de Wind, Niels ; Hoogerbrugge, Nicoline ; Hogervorst, Frans B.LHuman mutation, 2008-11, Vol.29 (11), p.1292-1303 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Locus-specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genesGreenblatt, Marc S ; Brody, Lawrence C ; Foulkes, William D ; Genuardi, Maurizio ; Hofstra, Robert M.W ; Olivier, Magali ; Plon, Sharon E ; Sijmons, Rolf H ; Sinilnikova, Olga ; Spurdle, Amanda BHuman mutation, 2008-11, Vol.29 (11), p.1273-1281 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Causes of permanent childhood hearing impairmentKorver, Anna M.H. ; Admiraal, Ronald J.C. ; Kant, Sarina G. ; Dekker, Friedo W. ; Wever, Capi C. ; Kunst, Henricus P.M. ; Frijns, Johan H.M. ; Oudesluys -Murphy, Anne MarieThe Laryngoscope, 2011-02, Vol.121 (2), p.409-416 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |