Rezultati pretrage - Anne‐Bine Skytte

  • Prikaz rezultata 1 – 11 od 11
Detaljiziraj rezultate
  1. 1
    A cohort study of men infected with COVID-19 for presence of SARS-CoV-2 virus in their semen

    A cohort study of men infected with COVID-19 for presence of SARS-CoV-2 virus in their semen od Corey Burke, Anne‐Bine Skytte, Saghar Kasiri, D. J. Howell, Zamip P. Patel, Mark P. Trolice, Sijo J. Parekattil, Scott F. Michael, Lauren M. Paul

    Izdano 2021
    Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:
  2. 2
    Multilocus Inherited Neoplasia Alleles Syndrome

    Multilocus Inherited Neoplasia Alleles Syndrome od James W. Whitworth, Anne‐Bine Skytte, Lone Sunde, Derek Lim, Mark J. Arends, Lisa Happerfield, Ian M. Frayling, Rick van Minkelen, Emma R. Woodward, Marc Tischkowitz, Eamonn R. Maher

    Izdano 2015
    Preuzmi cijeli tekst Preuzmi cijeli tekst
    Revisão
    Spremi u popis
    Spremljeno u:
  3. 3
    Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes

    Dosage Changes of a Segment at 17p13.1 Lead to Intellectual Disability and Microcephaly as a Result of Complex Genetic Interaction of Multiple Genes od Claudia M.B. Carvalho, Shivakumar Vasanth, Marwan Shinawi, Chad Russell, Melissa B. Ramocki, Chester Brown, Jesper Graakjær, Anne‐Bine Skytte, Angela Maria Vianna‐Morgante, Ana Cristina Victorino Krepischi, Gayle Patel, LaDonna Immken, Kyrieckos A. Aleck, Cynthia Lim, S.W. Cheung, Carla Rosenberg, Nicholas Katsanis, James R. Lupski

    Izdano 2014
    Preuzmi cijeli tekst Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:
  4. 4
    Single duplex DNA sequencing with CODEC detects mutations with high sensitivity

    Single duplex DNA sequencing with CODEC detects mutations with high sensitivity od Jin H. Bae, Ruolin Liu, Eugenia Roberts, Erica Nguyen, Shervin Tabrizi, Justin Rhoades, Timothy Blewett, Kan Xiong, Gregory Gydush, Douglas Shea, Zhenyi An, Sahil Patel, Ju Cheng, Sainetra Sridhar, Mei Hong Liu, Emilie Lassen, Anne‐Bine Skytte, Marta Grońska-Pęski, Jonathan E. Shoag, Gilad D. Evrony, Heather A. Parsons, Erica L. Mayer, G. Mike Makrigiorgos, Todd R. Golub, Viktor A. Adalsteinsson

    Izdano 2023
    Preuzmi cijeli tekst Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:
  5. 5
    Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

    Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice od Aia Elise Jønch, Élise Douard, Clara Moreau, Anke Van Dijck, Marzia Passeggeri, R. Frank Kooy, Jacques Puechberty, Carolyn Campbell, Damien Sanlaville, Henrietta Lefroy, Sonia Richetin, Aurélie Pain, David Geneviève, Usha Kini, Cédric Le Caignec, James Lespinasse, Anne‐Bine Skytte, Bertrand Isidor, Christiane Zweier, Jean-Hubert Caberg, Marie-Ange Delrue, Rikke S. Møller, Anders Bojesen, Helle Hjalgrim, Charlotte Brasch‐Andersen, Emmanuelle Lemyre, Lilian Bomme Ousager, Sébastien Jacquemont

    Izdano 2019
    Preuzmi cijeli tekst Preuzmi cijeli tekst
    Revisão
    Spremi u popis
    Spremljeno u:
  6. 6
    The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

    The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1 od Mark Depner, Sebastian Fuchs, Jan Raabe, Natalie Frede, Cristina Glocker, Rainer Döffinger, Effrossyni Gkrania‐Klotsas, Dinakantha Kumararatne, T. Prescott Atkinson, Harry W. Schroeder, Tim Niehues, Gregor Dückers, Asbjørg Stray‐Pedersen, Ulrich Baumann, Reinhold Schmidt, José Luis Franco, Julio César Orrego, Moshe Ben‐Shoshan, Christine McCusker, Cristina Miuki Abe Jacob, Magda Carneiro‐Sampaio, Lisa Devlin, David Edgar, Paul Henderson, Richard K. Russell, Anne‐Bine Skytte, Suranjith L. Seneviratne, Jennifer Wanders, Hans J. Stauss, Isabelle Meyts, Leen Moens, Miloš Jeseňák, Robin Kobbe, Stephan Borte, Michael Borte, Dowain A. Wright, David Hagin, Troy R. Torgerson, Bodo Grimbacher

    Izdano 2015
    Preuzmi cijeli tekst Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:
  7. 7
    Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

    Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes od James Whitworth, Philip Smith, José-Ezequiel Martín, Hannah D. West, Andrea Luchetti, Faye Rodger, Graeme M. Clark, Keren Carss, Jonathan Stephens, Kathleen Stirrups, Chris Penkett, Rutendo Mapeta, Sofie Ashford, Karyn Mégy, Hassan Shakeel, Munaza Ahmed, Julian Adlard, Julian Barwell, Carole Brewer, Ruth Casey, Ruth Armstrong, Trevor Cole, D. Gareth Evans, Florentia Fostira, Lynn Greenhalgh, Helen Hanson, Alex Henderson, Jonathan Hoffman, Louise Izatt, Ajith Kumar, Ava Kwong, Fiona Lalloo, Kai Ren Ong, Joan Paterson, Soo‐Mi Park, Rakefet Chen‐Shtoyerman, Claire Searle, Lucy Side, Anne‐Bine Skytte, Katie Snape, Emma R. Woodward, Timothy J. Aitman, Hana Alachkar, Sonia Ali, Louise Allen, David Allsup, Gautum Ambegaonkar, Julie Anderson, Richard Antrobus, Ruth Armstrong, Gavin Arno, Gururaj Arumugakani, Sofie Ashford, William F. Astle, Antony Attwood, Steve Austin, Chiara Bacchelli, Tamam Bakchoul, Tadbir K. Bariana, Helen Baxendale, David Bennett, Claire Bethune, Shahnaz Bibi, Maria Bitner‐Glindzicz, Marta Bleda, Harm Boggard, Paula Bolton‐Maggs, Claire Booth, John R. Bradley, Angie Brady, Matthew A. Brown, Michael J. Browning, Christine Bryson, Siobhán O. Burns, Paul Calleja, Natalie Canham, Jenny Carmichael, Keren Carss, Mark J. Caulfield, Elizabeth Chalmers, Anita Chandra, Patrick F. Chinnery, Manali Chitre, Colin Church, Emma Clement, Emma Clement, Virginia Clowes, Gerry Coghlan, Peter Collins, Victoria Cookson, Nichola Cooper, Paul A. Corris, Amanda Creaser-Myers, Rosa DaCosta, Louise C. Daugherty, Sophie Davies, John S. Davis, Minka De Vries, Patrick Deegan, Sri V. V. Deevi

    Izdano 2018
    Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:
  8. 8
    Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers

    Common Variants at the 19p13.1 and <i>ZNF365</i> Loci Are Associated with ER Subtypes of Breast Cancer and Ovarian Cancer Risk in <i>BRCA1</i> and <i>BRCA2</i> Mutation Carriers od Fergus J. Couch, Mia M. Gaudet, Antonis C. Antoniou, Susan J. Ramus, Karoline Kuchenbaecker, Penny Soucy, Jonathan Beesley, Xiaohong Chen, Xianshu Wang, Tomas Kirchhoff, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Sue Healey, Olga M. Sinilnikova, Irene L. Andrulis, Hilmi Özçelik, Anna Marie Mulligan, Mads Thomassen, Anne‐Marie Gerdes, Uffe Birk Jensen, Anne‐Bine Skytte, Torben A. Kruse, Maria A. Caligo, Anna von Wachenfeldt, Gisela Barbany, Niklas Loman, Maria Soller, Hans Ehrencrona, Per Karlsson, Katherine L. Nathanson, Timothy R. Rebbeck, Susan M. Domchek, Anna Jakubowska, Jan Lubiński, Katarzyna Jaworska, Katarzyna Durda, Elżbieta Złowocka, Tomasz Huzarski, Tomasz Byrski, Jacek Gronwald, Cezary Cybulski, Bohdan Górski, Ana Osório, M. Durán, María‐Isabel Tejada, Javier Benı́tez, Ute Hamann, Frans B.L. Hogervorst, Theo A. van Os, Flora E. van Leeuwen, Hanne Meijers‐Heijboer, Juul Wijnen, Marinus J. Blok, Marleen Kets, Maartje J. Hooning, Rogier A. Oldenburg, Margreet G.E.M. Ausems, Susan Peock, Debra Frost, Steve D. Ellis, Radka Platte, Elena Fineberg, D. Gareth Evans, Chris Jacobs, Rosalind A. Eeles, Julian Adlard, Rosemarie Davidson, Diana Eccles, Trevor Cole, Jackie Cook, Joan Paterson, Carole Brewer, Fiona Douglas, Shirley V. Hodgson, Patrick J. Morrison, Lisa Walker, Mary Porteous, Esther M. John, Lucy Side, Betsy Bove, Andrew K. Godwin, Dominique Stoppa‐Lyonnet, Marion Fassy-Colcombet, Laurent Castéra, François Cornelis, Sylvie Mazoyer, Mélanie Léoné, Nadia Boutry‐Kryza, Brigitte Bressac–de Paillerets, Olivier Caron, Pascal Pujol, Isabelle Coupier, Capucine Delnatte, Linda Akloul, Henry T. Lynch, Carrie Snyder, Saundra S. Buys, Mary B. Daly, Mary Beth Terry

    Izdano 2012
    Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:
  9. 9
    Cancer Risks Associated With Germline<i>PALB2</i>Pathogenic Variants: An International Study of 524 Families

    Cancer Risks Associated With Germline<i>PALB2</i>Pathogenic Variants: An International Study of 524 Families od Xin Yang, Goska Leslie, Alicja Doroszuk, Sandra Schneider, Jamie Allen, Brennan Decker, Alison M. Dunning, James Redman, James A. Scarth, Inga Plaskocinska, Craig Luccarini, Mitul Shah, Karen A. Pooley, Leila Dorling, Andrew Lee, Muriel A. Adank, Julian Adlard, Kristiina Aittomäki, Irene L. Andrulis, Peter Ang, Julian Barwell, Jonine L. Bernstein, Kristie Bobolis, Åke Borg, Carl Blomqvist, Kathleen Claes, Patrick Concannon, Adeline Cuggia, Julie O. Culver, Francesca Damiola, Antoine De Pauw, Orland Dı́ez, Jill S. Dolinsky, Susan M. Domchek, Christoph Engel, D. Gareth Evans, Florentia Fostira, Judy E. Garber, Lisa Golmard, Ellen L. Goode, Stephen B. Gruber, Eric Hahnen, Christopher R. Hake, Tuomas Heikkinen, Judith Hurley, Ramūnas Janavičius, Zdeněk Kleibl, Petra Kleiblová, Irene Konstantopoulou, Anders Kvist, Holly LaDuca, Ann S. G. Lee, Fabienne Lesueur, Eamonn R. Maher, Graham J. Mann, Siranoush Manoukian, Rachel McFarland, Wendy McKinnon, Alfons Meindl, Kelly Metcalfe, Nur Aishah Mohd Taib, Jukka S. Moilanen, Katherine L. Nathanson, Susan L. Neuhausen, Pei Sze Ng, Tú Nguyen‐Dumont, Sarah M. Nielsen, Florian Obermair, Kenneth Offit, Olufunmilayo I. Olopade, Laura Ottini, Judith Penkert, Katri Pylkäs, Paolo Radice, Susan J. Ramus, Vilius Rudaitis, Lucy Side, Rachel Silva‐Smith, Valentina Silvestri, Anne‐Bine Skytte, Thomas Slavin, Jana Soukupová, Carlo Tondini, Alison H. Trainer, Gary Unzeitig, Lydia Usha, Thomas van Overeem Hansen, James Whitworth, Marie Wood, Cheng Har Yip, Sook‐Yee Yoon, Amal Yussuf, George Zogopoulos, David E. Goldgar, John L. Hopper, Georgia Chenevix‐Trench, Paul D.P. Pharoah, Sophia George, Judith Balmañà, Claude Houdayer

    Izdano 2019
    Preuzmi cijeli tekst Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:
  10. 10
    Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study

    Targeted Prostate Cancer Screening in BRCA1 and BRCA2 Mutation Carriers: Results from the Initial Screening Round of the IMPACT Study od Elizabeth Bancroft, Elizabeth Page, Elena Castro, Hans Lilja, Andrew J. Vickers, Daniel D. Sjoberg, Melissa Assel, Christopher S. Foster, Gillian Mitchell, Kate Drew, Lovise Mæhle, Karol Axcrona, D. Gareth Evans, Barbara Bulman, Diana Eccles, Donna McBride, Nicholas van As, Hans F. A. Vasen, Lambertus A. Kiemeney, Janneke Ringelberg, Cezary Cybulski, Dominika Wokołorczyk, Christina G. Selkirk, Peter J. Hulick, Anders Bojesen, Anne‐Bine Skytte, Jimmy Lam, Louise Taylor, Rogier A. Oldenburg, R.G.H.M. Cremers, Gerald W. Verhaegh, Wendy A. van Zelst-Stams, Jan C. Oosterwijk, Ignacio Blanco, Mónica Salinas, Jackie Cook, Derek J. Rosario, Saundra Buys, Tom Conner, Margreet G.E.M. Ausems, Kai‐ren Ong, Jonathan Hoffman, Susan M. Domchek, Jacquelyn Powers, Manuel R. Teixeira, Sofia Maia, William D. Foulkes, Nassim Taherian, Mariëlle Ruijs, Apollonia T. Helderman-van den Enden, Louise Izatt, Rosemarie Davidson, Muriel A. Adank, Lisa Walker, Rita K. Schmutzler, Kathy Tucker, Judy Kirk, Shirley Hodgson, Marion Harris, Fiona Douglas, Geoffrey J. Lindeman, Janez Žgajnar, Marc Tischkowitz, Virginia E. Clowes, Rachel Susman, Teresa Ramón y Cajal, Nicholas Patcher, Neus Gadea, Allan D. Spigelman, Theo van Os, Annelie Liljegren, Lucy Side, Carole Brewer, Angela F. Brady, Alan Donaldson, Vigdís Stefànsdóttir, Eitan Friedman, Rakefet Chen‐Shtoyerman, David J. Amor, Lucia Copáková, Julian Barwell, Veda N. Giri, Vedang Murthy, Nicola Nicolai, Soo‐Hwang Teo, Lynn Greenhalgh, Sara S. Strom, Alex Henderson, John McGrath, David Gallagher, Neil K. Aaronson, Audrey Ardern‐Jones, Chris Bangma, David Dearnaley, Philandra Costello, Jórunn E. Eyfjörd, Jeanette Rothwell, Alison Falconer, Henrik Grönberg, Freddie C. Hamdy

    Izdano 2014
    Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:
  11. 11
    Megalencephalic leukoencephalopathy with subcortical cysts

    Megalencephalic leukoencephalopathy with subcortical cysts od Eline M. Hamilton, Pınar Tektürk, Fia Cialdella, Diane F. van Rappard, Nicole I. Wolf, Cengiz Yalçınkaya, Ümran Çetinçelik, Ahmad Rajaee, Ariana Kariminejad, Justyna Paprocka, Zühal Yapıcı, Vlatka Mejaški Bošnjak, Marjo S. van der Knaap, Hugo Hernán Abarca-Barriga, Samer Abdelrazeq, Gül Serdaroğlu, P. Ian Andrews, Richard Appleton, Lucia Argandoña Palacios, Brenda Banwell, Florian Bauder, Gülçin Benbir Şenel, Tim A. Benke, Susan Blasér, Annette Bley, Cristiana Brenner, Knut Brockmann, Rafael Camino, Coriene E. Catsman‐Berrevoets, Yanick J. Crow, M. A. J. Scott R. Dalton, María de la Luz Arenas‐Sordo, Linda De Meırleır, Ana Isabel Dias, Francis J. DiMario, Maria Alice Donati, Nihal Olgaç Dündar, François Feillet, Maria José Fonseca, Emilio Franzoni, Jeremy L. Freeman, Katsunori Fujii, Soumya Ghosh, Scott Gold, Solange Gril, Barbara Hallinan, Ágnes Herczegfalvi, Jozef Hertecant, Joannie Hui, David Hunt, Parul Jayakar, Bülent Kara, Çiğdem Seher Kasapkara, Gülşen Kocaman, David M. Koeller, Wolfgang Köhler, Alfried Kohlschütter, Marja Koivusalo, Urania Kotzaeridou, Roshan Koul, Ingeborg Krägeloh‐Mann, Ružica Kravljanac, Gerhard Kurlemann, Julian Lara Herguedas, Silvia Laurentino, Richard J. Leventer, Bryan Lynch, Oliver Maier, Sascha Meyer, Olivera Miljanović, José Paulo Monteiro, Ellen Moran, T. Moreno, Jacques Motté, C. D. Moyes, Lakshmi Nagarajan, Marie‐Cécile Nassogne, Slavica Ostojić, P Pietsch, Iliana Porfiri, Sofia Quintas, Maria Belen Ramos, Deborah L. Renaud, Biserka Rešić, Carolina Rivera Nieto, Jutta Rummel, Robert Rusina, Mustafa A. Salih, Sabine Scholl‐Bürgi, Bitten Schönewolf‐Greulich, Snehal Shah, Suvasini Sharma, Gabriella Silvestri, Komudi Siriwardena, Victoria Mok Siu, Anne‐Bine Skytte, Zeyneb Soysal, Carlos Eduardo Speck Martins, Angela Sun, Burak Tatlı

    Izdano 2018
    Preuzmi cijeli tekst Preuzmi cijeli tekst
    Artigo
    Spremi u popis
    Spremljeno u:

Alati za pretragu: