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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Nature reviews. Disease primers, 2017-01, Vol.3 (1), p.16094-16094, Article 16094
2017
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Nature genetics, 2011-03, Vol.43 (3), p.197-203
- Beales, Philip L
- Rooryck, Caroline
- Diaz-Font, Anna
- Osborn, Daniel P S
- Chabchoub, Elyes
- Hernandez-Hernandez, Victor
- Shamseldin, Hanan
- Kenny, Joanna
- Waters, Aoife
- Jenkins, Dagan
- Kaissi, Ali Al
- Leal, Gabriela F
- Dallapiccola, Bruno
- Carnevale, Franco
- Bitner-Glindzicz, Maria
- Lees, Melissa
- Hennekam, Raoul
- Stanier, Philip
- Burns, Alan J
- Peeters, Hilde
- Alkuraya, Fowzan S
2011
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Scientific reports, 2020-08, Vol.10 (1), p.13763-13763, Article 13763
- Bryant, Dale
- Seda, Marian
- Peskett, Emma
- Maurer, Constance
- Pomeranz, Gideon
- Ghosh, Marcus
- Hawkins, Thomas A.
- Cleak, James
- Datta, Sanchari
- Hariri, Hanaa
- Eckert, Kaitlyn M.
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- Walsh, Claire
- Demetriou, Charalambos
- Ishida, Miho
- Alemán-Charlet, Cristina
- Vestito, Letizia
- Seselgyte, Rimante
- McDonald, Jeffrey G.
- Bitner-Glindzicz, Maria
- Hemberger, Myriam
- Rihel, Jason
- Teboul, Lydia
- Henne, W. Mike
- Jenkins, Dagan
- Moore, Gudrun E.
- Stanier, Philip
2020
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Nature (London), 2020-07, Vol.583 (7814), p.96-102
- Turro, Ernest
- Astle, William J.
- Megy, Karyn
- Gräf, Stefan
- Greene, Daniel
- Shamardina, Olga
- Allen, Hana Lango
- Sanchis-Juan, Alba
- Frontini, Mattia
- Thys, Chantal
- Stephens, Jonathan
- Mapeta, Rutendo
- Burren, Oliver S.
- Downes, Kate
- Haimel, Matthias
- Tuna, Salih
- Deevi, Sri V. V.
- Aitman, Timothy J.
- Bennett, David L.
- Calleja, Paul
- Carss, Keren
- Caulfield, Mark J.
- Chinnery, Patrick F.
- Dixon, Peter H.
- Gale, Daniel P.
- James, Roger
- Koziell, Ania
- Laffan, Michael A.
- Levine, Adam P.
- Maher, Eamonn R.
- Markus, Hugh S.
- Morales, Joannella
- Morrell, Nicholas W.
- Mumford, Andrew D.
- Ormondroyd, Elizabeth
- Rankin, Stuart
- Rendon, Augusto
- Richardson, Sylvia
- Roberts, Irene
- Roy, Noemi B. A.
- Saleem, Moin A.
- Smith, Kenneth G. C.
- Stark, Hannah
- Tan, Rhea Y. Y.
- Themistocleous, Andreas C.
- Thrasher, Adrian J.
- Watkins, Hugh
- Webster, Andrew R.
- Wilkins, Martin R.
- Williamson, Catherine
- Whitworth, James
- Humphray, Sean
- Bentley, David R.
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- Walker, Neil
- Bradley, John R.
- Ashford, Sofie
- Penkett, Christopher J.
- Freson, Kathleen
- Stirrups, Kathleen E.
- Raymond, F. Lucy
- Ouwehand, Willem H.
2020
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Nature (London), 2017-02, Vol.542 (7642), p.433-438
- McRae, Jeremy F
- Clayton, Stephen
- Mason, Laura E
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- Ahmed, Munaza
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- Banka, Siddharth
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2017
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Nature (London), 2020-07, Vol.583 (7814), p.90-95
- Thaventhiran, James E. D.
- Lango Allen, Hana
- Burren, Oliver S.
- Rae, William
- Greene, Daniel
- Staples, Emily
- Zhang, Zinan
- Farmery, James H. R.
- Simeoni, Ilenia
- Rivers, Elizabeth
- Maimaris, Jesmeen
- Penkett, Christopher J.
- Stephens, Jonathan
- Deevi, Sri V. V.
- Sanchis-Juan, Alba
- Gleadall, Nicholas S.
- Thomas, Moira J.
- Sargur, Ravishankar B.
- Gordins, Pavels
- Baxendale, Helen E.
- Brown, Matthew
- Tuijnenburg, Paul
- Worth, Austen
- Hanson, Steven
- Linger, Rachel J.
- Buckland, Matthew S.
- Rayner-Matthews, Paula J.
- Gilmour, Kimberly C.
- Samarghitean, Crina
- Seneviratne, Suranjith L.
- Sansom, David M.
- Lynch, Andy G.
- Megy, Karyn
- Ellinghaus, Eva
- Ellinghaus, David
- Jorgensen, Silje F.
- Karlsen, Tom H.
- Stirrups, Kathleen E.
- Cutler, Antony J.
- Kumararatne, Dinakantha S.
- Chandra, Anita
- Edgar, J. David M.
- Herwadkar, Archana
- Cooper, Nichola
- Grigoriadou, Sofia
- Huissoon, Aarnoud P.
- Goddard, Sarah
- Jolles, Stephen
- Schuetz, Catharina
- Boschann, Felix
- Lyons, Paul A.
- Hurles, Matthew E.
- Savic, Sinisa
- Burns, Siobhan O.
- Kuijpers, Taco W.
- Turro, Ernest
- Ouwehand, Willem H.
- Thrasher, Adrian J.
- Smith, Kenneth G. C.
2020
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Nature communications, 2018-11, Vol.9 (1), p.4619-12, Article 4619
- Snijders Blok, Lot
- Rousseau, Justine
- Twist, Joanna
- Ehresmann, Sophie
- Takaku, Motoki
- Venselaar, Hanka
- Rodan, Lance H.
- Nowak, Catherine B.
- Douglas, Jessica
- Swoboda, Kathryn J.
- Steeves, Marcie A.
- Sahai, Inderneel
- Stumpel, Connie T. R. M.
- Stegmann, Alexander P. A.
- Wheeler, Patricia
- Willing, Marcia
- Fiala, Elise
- Kochhar, Aaina
- Gibson, William T.
- Cohen, Ana S. A.
- Agbahovbe, Ruky
- Innes, A. Micheil
- Au, P. Y. Billie
- Rankin, Julia
- Anderson, Ilse J.
- Skinner, Steven A.
- Louie, Raymond J.
- Warren, Hannah E.
- Afenjar, Alexandra
- Keren, Boris
- Nava, Caroline
- Buratti, Julien
- Isapof, Arnaud
- Rodriguez, Diana
- Lewandowski, Raymond
- Propst, Jennifer
- van Essen, Ton
- Choi, Murim
- Lee, Sangmoon
- Chae, Jong H.
- Price, Susan
- Schnur, Rhonda E.
- Douglas, Ganka
- Wentzensen, Ingrid M.
- Zweier, Christiane
- Reis, André
- Bialer, Martin G.
- Moore, Christine
- Koopmans, Marije
- Brilstra, Eva H.
- Monroe, Glen R.
- van Gassen, Koen L. I.
- van Binsbergen, Ellen
- Newbury-Ecob, Ruth
- Bownass, Lucy
- Bader, Ingrid
- Mayr, Johannes A.
- Wortmann, Saskia B.
- Jakielski, Kathy J.
- Strand, Edythe A.
- Kloth, Katja
- Bierhals, Tatjana
- Roberts, John D.
- Petrovich, Robert M.
- Machida, Shinichi
- Kurumizaka, Hitoshi
- Lelieveld, Stefan
- Pfundt, Rolph
- Jansen, Sandra
- Deriziotis, Pelagia
- Faivre, Laurence
- Thevenon, Julien
- Assoum, Mirna
- Shriberg, Lawrence
- Kleefstra, Tjitske
- Brunner, Han G.
- Wade, Paul A.
- Fisher, Simon E.
- Campeau, Philippe M.
2018
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Nature (London), 2020-08, Vol.584 (7819), p.E2-E2
- Thaventhiran, James E. D.
- Lango Allen, Hana
- Burren, Oliver S.
- Rae, William
- Greene, Daniel
- Staples, Emily
- Zhang, Zinan
- Farmery, James H. R.
- Simeoni, Ilenia
- Rivers, Elizabeth
- Maimaris, Jesmeen
- Penkett, Christopher J.
- Stephens, Jonathan
- Deevi, Sri V. V.
- Sanchis-Juan, Alba
- Gleadall, Nicholas S.
- Thomas, Moira J.
- Sargur, Ravishankar B.
- Gordins, Pavels
- Baxendale, Helen E.
- Brown, Matthew
- Tuijnenburg, Paul
- Worth, Austen
- Hanson, Steven
- Linger, Rachel J.
- Buckland, Matthew S.
- Rayner-Matthews, Paula J.
- Gilmour, Kimberly C.
- Samarghitean, Crina
- Seneviratne, Suranjith L.
- Sansom, David M.
- Lynch, Andy G.
- Megy, Karyn
- Ellinghaus, Eva
- Ellinghaus, David
- Jorgensen, Silje F.
- Karlsen, Tom H.
- Stirrups, Kathleen E.
- Cutler, Antony J.
- Kumararatne, Dinakantha S.
- Chandra, Anita
- Edgar, J. David M.
- Herwadkar, Archana
- Cooper, Nichola
- Grigoriadou, Sofia
- Huissoon, Aarnoud P.
- Goddard, Sarah
- Jolles, Stephen
- Schuetz, Catharina
- Boschann, Felix
- Lyons, Paul A.
- Hurles, Matthew E.
- Savic, Sinisa
- Burns, Siobhan O.
- Kuijpers, Taco W.
- Turro, Ernest
- Ouwehand, Willem H.
- Thrasher, Adrian J.
- Smith, Kenneth G. C.
2020
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Nature communications, 2019-05, Vol.10 (1), p.2079-2079, Article 2079
- Snijders Blok, Lot
- Rousseau, Justine
- Twist, Joanna
- Ehresmann, Sophie
- Takaku, Motoki
- Venselaar, Hanka
- Rodan, Lance H.
- Nowak, Catherine B.
- Douglas, Jessica
- Swoboda, Kathryn J.
- Steeves, Marcie A.
- Sahai, Inderneel
- Stumpel, Connie T. R. M.
- Stegmann, Alexander P. A.
- Wheeler, Patricia
- Willing, Marcia
- Fiala, Elise
- Kochhar, Aaina
- Gibson, William T.
- Cohen, Ana S. A.
- Agbahovbe, Ruky
- Innes, A. Micheil
- Au, P. Y. Billie
- Rankin, Julia
- Anderson, Ilse J.
- Skinner, Steven A.
- Louie, Raymond J.
- Warren, Hannah E.
- Afenjar, Alexandra
- Keren, Boris
- Nava, Caroline
- Buratti, Julien
- Isapof, Arnaud
- Rodriguez, Diana
- Lewandowski, Raymond
- Propst, Jennifer
- van Essen, Ton
- Choi, Murim
- Lee, Sangmoon
- Chae, Jong H.
- Price, Susan
- Schnur, Rhonda E.
- Douglas, Ganka
- Wentzensen, Ingrid M.
- Zweier, Christiane
- Reis, André
- Bialer, Martin G.
- Moore, Christine
- Koopmans, Marije
- Brilstra, Eva H.
- Monroe, Glen R.
- van Gassen, Koen L. I.
- van Binsbergen, Ellen
- Newbury-Ecob, Ruth
- Bownass, Lucy
- Bader, Ingrid
- Mayr, Johannes A.
- Wortmann, Saskia B.
- Jakielski, Kathy J.
- Strand, Edythe A.
- Kloth, Katja
- Bierhals, Tatjana
- Roberts, John D.
- Petrovich, Robert M.
- Machida, Shinichi
- Kurumizaka, Hitoshi
- Lelieveld, Stefan
- Pfundt, Rolph
- Jansen, Sandra
- Deriziotis, Pelagia
- Faivre, Laurence
- Thevenon, Julien
- Assoum, Mirna
- Shriberg, Lawrence
- Kleefstra, Tjitske
- Brunner, Han G.
- Wade, Paul A.
- Fisher, Simon E.
- Campeau, Philippe M.
2019
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Nature communications, 2019-02, Vol.10 (1), p.883-4, Article 883
- Blok, Lot Snijders
- Rousseau, Justine
- Twist, Joanna
- Ehresmann, Sophie
- Takaku, Motoki
- Venselaar, Hanka
- Rodan, Lance H.
- Nowak, Catherine B.
- Douglas, Jessica
- Swoboda, Kathryn J.
- Steeves, Marcie A.
- Sahai, Inderneel
- Stumpel, Connie T. R. M.
- Stegmann, Alexander P. A.
- Wheeler, Patricia
- Willing, Marcia
- Fiala, Elise
- Kochhar, Aaina
- Gibson, William T.
- Cohen, Ana S. A.
- Agbahovbe, Ruky
- Innes, A. Micheil
- Au, P. Y. Billie
- Rankin, Julia
- Anderson, Ilse J.
- Skinner, Steven A.
- Louie, Raymond J.
- Warren, Hannah E.
- Afenjar, Alexandra
- Keren, Boris
- Nava, Caroline
- Buratti, Julien
- Isapof, Arnaud
- Rodriguez, Diana
- Lewandowski, Raymond
- Propst, Jennifer
- van Essen, Ton
- Choi, Murim
- Lee, Sangmoon
- Chae, Jong H.
- Price, Susan
- Schnur, Rhonda E.
- Douglas, Ganka
- Wentzensen, Ingrid M.
- Zweier, Christiane
- Reis, André
- Bialer, Martin G.
- Moore, Christine
- Koopmans, Marije
- Brilstra, Eva H.
- Monroe, Glen R.
- van Gassen, Koen L. I.
- van Binsbergen, Ellen
- Newbury-Ecob, Ruth
- Bownass, Lucy
- Bader, Ingrid
- Mayr, Johannes A.
- Wortmann, Saskia B.
- Jakielski, Kathy J.
- Strand, Edythe A.
- Kloth, Katja
- Bierhals, Tatjana
- Roberts, John D.
- Petrovich, Robert M.
- Machida, Shinichi
- Kurumizaka, Hitoshi
- Lelieveld, Stefan
- Pfundt, Rolph
- Jansen, Sandra
- Deriziotis, Pelagia
- Faivre, Laurence
- Thevenon, Julien
- Assoum, Mirna
- Shriberg, Lawrence
- Kleefstra, Tjitske
- Brunner, Han G.
- Wade, Paul A.
- Fisher, Simon E.
- Campeau, Philippe M.
2019
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European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1318-1327
2015
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European journal of human genetics : EJHG, 2016-11, Vol.24 (11), p.1-4
2016
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Scientific reports, 2018-01, Vol.8 (1), p.1300-17, Article 1300
2018
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European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1325-1329
2013
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Nature (London), 2020-07, Vol.583 (7814), p.96-102
- Turro, Ernest
- Astle, William
- Megy, Karyn
- Gräf, Stefan
- Greene, Daniel
- Shamardina, Olga
- Allen, Hana Lango
- Sanchis-Juan, Alba
- Frontini, Mattia
- Thys, Chantal
- Stephens, Jonathan
- Mapeta, Rutendo
- Burren, Oliver
- Downes, Kate
- Haimel, Matthias
- Tuna, Salih
- Deevi, Sri
- Aitman, Timothy
- Bennett, David
- Calleja, Paul
- Carss, Keren
- Caulfield, Mark
- Chinnery, Patrick
- Dixon, Peter
- Gale, Daniel
- James, Roger
- Koziell, Ania
- Laffan, Michael
- Levine, Adam
- Maher, Eamonn
- Markus, Hugh
- Morales, Joannella
- Morrell, Nicholas
- Mumford, Andrew
- Ormondroyd, Elizabeth
- Rankin, Stuart
- Rendon, Augusto
- Richardson, Sylvia
- Roberts, Irene
- Roy, Noemi
- Saleem, Moin
- Smith, Kenneth
- Stark, Hannah
- Tan, Rhea
- Themistocleous, Andreas
- Thrasher, Adrian
- Watkins, Hugh
- Webster, Andrew
- Wilkins, Martin
- Williamson, Catherine
- Whitworth, James
- Humphray, Sean
- Bentley, David
- Abbs, Stephen
- Abulhoul, Lara
- Adlard, Julian
- Ahmed, Munaza
- Alachkar, Hana
- Allsup, David
- Almeida-King, Jeff
- Ancliff, Philip
- Antrobus, Richard
- Armstrong, Ruth
- Arno, Gavin
- Ashford, Sofie
- Attwood, Anthony
- Aurora, Paul
- Babbs, Christian
- Bacchelli, Chiara
- Bakchoul, Tamam
- Banka, Siddharth
- Bariana, Tadbir
- Barwell, Julian
- Batista, Joana
- Baxendale, Helen
- Beales, Phil
- Bierzynska, Agnieszka
- Biss, Tina
- Bitner-Glindzicz, Maria
- Black, Graeme
- Bleda, Marta
- Blesneac, Iulia
- Bockenhauer, Detlef
- Bogaard, Harm
- Bourne, Christian
- Boyce, Sara
- Bradley, John
- Bragin, Eugene
- Breen, Gerome
- Brennan, Paul
- Brewer, Carole
- Brown, Matthew
- Browning, Andrew
- Browning, Michael
- Buchan, Rachel
- Buckland, Matthew
- Bueser, Teofila
- Diz, Carmen Bugarin
- Burn, John
- Burns, Siobhan
2020
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Nature (London), 2020-07, Vol.583 (7814), p.96-102
- Turro, Ernest
- Astle, William
- Megy, Karyn
- Gräf, Stefan
- Greene, Daniel
- Shamardina, Olga
- Allen, Hana Lango
- Sanchis-Juan, Alba
- Frontini, Mattia
- Thys, Chantal
- Stephens, Jonathan
- Mapeta, Rutendo
- Burren, Oliver
- Downes, Kate
- Haimel, Matthias
- Tuna, Salih
- Deevi, Sri
- Aitman, Timothy
- Bennett, David
- Calleja, Paul
- Carss, Keren
- Caulfield, Mark
- Chinnery, Patrick
- Dixon, Peter
- Gale, Daniel
- James, Roger
- Koziell, Ania
- Laffan, Michael
- Levine, Adam
- Maher, Eamonn
- Markus, Hugh
- Morales, Joannella
- Morrell, Nicholas
- Mumford, Andrew
- Ormondroyd, Elizabeth
- Rankin, Stuart
- Rendon, Augusto
- Richardson, Sylvia
- Roberts, Irene
- Roy, Noemi
- Saleem, Moin
- Smith, Kenneth
- Stark, Hannah
- Tan, Rhea
- Themistocleous, Andreas
- Thrasher, Adrian
- Watkins, Hugh
- Webster, Andrew
- Wilkins, Martin
- Williamson, Catherine
- Whitworth, James
- Humphray, Sean
- Bentley, David
- Abbs, Stephen
- Abulhoul, Lara
- Adlard, Julian
- Ahmed, Munaza
- Alachkar, Hana
- Allsup, David
- Almeida-King, Jeff
- Ancliff, Philip
- Antrobus, Richard
- Armstrong, Ruth
- Arno, Gavin
- Ashford, Sofie
- Attwood, Anthony
- Aurora, Paul
- Babbs, Christian
- Bacchelli, Chiara
- Bakchoul, Tamam
- Banka, Siddharth
- Bariana, Tadbir
- Barwell, Julian
- Batista, Joana
- Baxendale, Helen
- Beales, Phil
- Bierzynska, Agnieszka
- Biss, Tina
- Bitner-Glindzicz, Maria
- Black, Graeme
- Bleda, Marta
- Blesneac, Iulia
- Bockenhauer, Detlef
- Bogaard, Harm
- Bourne, Christian
- Boyce, Sara
- Bradley, John
- Bragin, Eugene
- Breen, Gerome
- Brennan, Paul
- Brewer, Carole
- Brown, Matthew
- Browning, Andrew
- Browning, Michael
- Buchan, Rachel
- Buckland, Matthew
- Bueser, Teofila
- Diz, Carmen Bugarin
- Burn, John
- Burns, Siobhan
2020
Volltextzugriff (PDF)
Scientific reports, 2018-09, Vol.8 (1), p.13376-4, Article 13376
2018
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