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1st ed. 2022., 2022
Volltextzugriff (PDF)
European journal of human genetics : EJHG, 2015-09, Vol.23 (9), p.1165-1170
- Gannon, Tamsin
- Perveen, Rahat
- Schlecht, Hélene
- Ramsden, Simon
- Anderson, Beverley
- Kerr, Bronwyn
- Day, Ruth
- Banka, Siddharth
- Suri, Mohnish
- Berland, Siren
- Gabbett, Michael
- Ma, Alan
- Lyonnet, Stan
- Cormier-Daire, Valerie
- Yilmaz, Rüstem
- Borck, Guntram
- Wieczorek, Dagmar
- Anderlid, Britt-Marie
- Smithson, Sarah
- Vogt, Julie
- Moore-Barton, Heather
- Simsek-Kiper, Pelin Ozlem
- Maystadt, Isabelle
- Destrée, Anne
- Bucher, Jessica
- Angle, Brad
- Mohammed, Shehla
- Wakeling, Emma
- Price, Sue
- Singer, Amihood
- Sznajer, Yves
- Toutain, Annick
- Haye, Damien
- Newbury-Ecob, Ruth
- Fradin, Melanie
- McGaughran, Julie
- Tuysuz, Beyhan
- Tein, Mark
- Bouman, Katelijne
- Dabir, Tabib
- Van den Ende, Jenneke
- Luk, Ho Ming
- Pilz, Daniela T
- Eason, Jacqueline
- Davies, Sally
- Reardon, Willie
- Garavelli, Livia
- Zuffardi, Orsetta
- Devriendt, Koen
- Armstrong, Ruth
- Johnson, Diana
- Doco-Fenzy, Martine
- Bijlsma, Emilia
- Unger, Sheila
- Veenstra-Knol, Hermine E
- Kohlhase, Jürgen
- Lo, Ivan F M
- Smith, Janine
- Clayton-Smith, Jill
2015
Volltextzugriff (PDF)
Nature (London), 2020-10, Vol.586 (7831), p.757-762
- Kaplanis, Joanna
- Samocha, Kaitlin E
- Wiel, Laurens
- Zhang, Zhancheng
- Arvai, Kevin J
- Eberhardt, Ruth Y
- Gallone, Giuseppe
- Lelieveld, Stefan H
- Martin, Hilary C
- McRae, Jeremy F
- Short, Patrick J
- Torene, Rebecca I
- de Boer, Elke
- Danecek, Petr
- Gardner, Eugene J
- Huang, Ni
- Lord, Jenny
- Martincorena, Iñigo
- Pfundt, Rolph
- Reijnders, Margot R F
- Yeung, Alison
- Yntema, Helger G
- Vissers, Lisenka E L M
- Juusola, Jane
- Wright, Caroline F
- Brunner, Han G
- Firth, Helen V
- FitzPatrick, David R
- Barrett, Jeffrey C
- Hurles, Matthew E
- Gilissen, Christian
- Retterer, Kyle
2020
Volltextzugriff (PDF)
Nature (London), 2017-02, Vol.542 (7642), p.433-438
- McRae, Jeremy F
- Clayton, Stephen
- Mason, Laura E
- Tivey, Adrian R
- Ahmed, Munaza
- Awada, Jana
- Balasubramanian, Meena
- Banka, Siddharth
- Bennett, Chris
- Bernhard, Birgitta
- Bevan, A. Paul
- Blair, Edward
- Blyth, Moira
- Burn, John
- Castle, Bruce
- Clasper, Susan
- Collins, Amanda
- Collinson, Morag N
- Dabir, Tabib
- Davidson, Rosemarie
- Davies, Sally
- Dean, John
- Donnai, Dian
- Ellard, Sian
- Ellis, Ian
- Everest, Sarah
- Foulds, Nicola
- Fryer, Alan
- Gaunt, Lorraine
- Goudie, David
- Gray, Emma
- Greene, Philip
- Gribble, Susan
- Henderson, Alex
- Hildyard, Lucy
- Holden, Simon
- Holder, Muriel
- Ingram, Stuart
- Jackson, Andrew
- Kaemba, Beckie
- Kazembe, Sandra
- Kinning, Esther
- Kraus, Alison
- Kumar, V. K. Ajith
- Lachlan, Katherine
- Lam, Wayne
- Lim, Derek
- Longman, Cheryl
- Lynch, Sally A
- Maher, Eddy
- Maye, Una
- McKay, Kirsten
- McWilliam, Catherine
- Metcalfe, Kay
- Morgan, Sian
- Murday, Victoria
- Murphy, Helen
- Nemeth, Andrea
- Nevitt, Louise
- Newbury-Ecob, Ruth
- Park, Soo-Mi
- Paterson, Joan
- Payne, Stewart
- Perrett, Daniel
- Pratt, Norman
- Quarrell, Oliver
- Randall, Josh
- Rankin, Julia
- Raymond, Lucy
- Robert, Leema
- Roberts, Paul
- Saggar, Anand
- Samant, Shalaka
- Sampson, Julian
- Sandford, Richard
- Selby, Ann
- Sequeira, Cheryl
- Shearing, Emma
- Smith, Audrey
- Smith, Kath
- Splitt, Miranda
- Suri, Mohnish
- Sutton, Vivienne
- Tatton-Brown, Kate
- Temple, I. Karen
- Turner, Claire
- Varghese, Vinod
- Vasudevan, Pradeep
- Vogt, Julie
- Wakeling, Emma
- Wilcox, Sarah
- Williams, Denise
- Williams, Nicola
- Wilson, Louise
- Wright, Michael
- Yates, Laura
- Yau, Michael
- Wright, Caroline F
- FitzPatrick, David R
- Barrett, Jeffrey C
2017
Volltextzugriff (PDF)
The Lancet (British edition), 2015-04, Vol.385 (9975), p.1305-1314
- Wright, Caroline F, Dr
- Fitzgerald, Tomas W, MS
- Jones, Wendy D, MBBS
- Clayton, Stephen, MRes
- McRae, Jeremy F, PhD
- van Kogelenberg, Margriet, PhD
- King, Daniel A, MD
- Ambridge, Kirsty, BSc
- Barrett, Daniel M, BSc
- Bayzetinova, Tanya, BSc
- Bevan, A Paul, PhD
- Bragin, Eugene, MSc
- Chatzimichali, Eleni A, PhD
- Gribble, Susan, PhD
- Jones, Philip, MSc
- Krishnappa, Netravathi, MSc
- Mason, Laura E, BSc
- Miller, Ray, PhD
- Morley, Katherine I, PhD
- Parthiban, Vijaya, PhD
- Prigmore, Elena, PhD
- Rajan, Diana, MSc
- Sifrim, Alejandro, PhD
- Swaminathan, G Jawahar, PhD
- Tivey, Adrian R, MSc
- Middleton, Anna, PhD
- Parker, Michael, Prof
- Carter, Nigel P, PhD
- Barrett, Jeffrey C, PhD
- Hurles, Matthew E, PhD
- FitzPatrick, David R, Prof
- Firth, Helen V, DM
2015
Volltextzugriff (PDF)
The New England journal of medicine, 2017-05, Vol.376 (21), p.2032-2042
- Mehta, Rajendra H
- Leimberger, Jeffrey D
- van Diepen, Sean
- Meza, James
- Wang, Alice
- Jankowich, Rachael
- Harrison, Robert W
- Hay, Douglas
- Fremes, Stephen
- Duncan, Andra
- Soltesz, Edward G
- Luber, John
- Park, Soon
- Argenziano, Michael
- Murphy, Edward
- Marcel, Randy
- Kalavrouziotis, Dimitri
- Nagpal, Dave
- Bozinovski, John
- Toller, Wolfgang
- Heringlake, Matthias
- Goodman, Shaun G
- Levy, Jerrold H
- Harrington, Robert A
- Anstrom, Kevin J
- Alexander, John H
2017
Volltextzugriff (PDF)
American journal of human genetics, 2018-01, Vol.102 (1), p.175-187
- Faundes, Víctor
- Demos, Michelle K.
- Goldman, Amy
- Lehman, Anna
- McKee, Shane
- Morton, Jenny
- Rankin, Julia
- Temple, I. Karen
- Adam, Shelin
- van Karnebeek, Clara
- Aitken, Stuart
- Alvi, Mohsan
- Ambridge, Kirsty
- Jones, Philip
- Jones, Wendy D.
- Mason, Laura E.
- Tivey, Adrian R.
- Ahmed, Munaza
- Balasubramanian, Meena
- Barnicoat, Angela
- Bitner-Glindzicz, Maria
- Bourdon, Louise
- Bradley, Lisa
- Burn, John
- Colgiu, Irina
- Collins, Amanda
- Collinson, Morag N.
- Connell, Fiona
- Crow, Yanick
- Dabir, Tabib
- Davidson, Rosemarie
- de Vries, Dylan
- Deshpande, Charu
- Dixit, Abhijit
- Dobbie, Angus
- Douzgou, Sofia
- Duncan, Alexis
- Eason, Jacqueline
- Ellard, Sian
- Elmslie, Frances
- Evans, Karenza
- Everest, Sarah
- Flinter, Frances
- Foulds, Nicola
- Ghali, Neeti
- Gibbons, Richard
- Gill, Harinder
- Greene, Philip
- Gribble, Susan
- Holder, Muriel
- Hollingsworth, Georgina
- Ingram, Stuart
- Jenkins, Lucy
- Joss, Shelagh
- Kerr, Bronwyn
- Kini, Usha
- Kraus, Alison
- Lachlan, Katherine
- Marks, Karen
- McConnell, Vivienne
- McEntagart, Meriel
- McGowan, Ruth
- Middleton, Anna
- Mohammed, Shehla
- O’Shea, Rosie
- Ogilvie, Caroline
- Ong, Kai-Ren
- Parker, Michael J.
- Patel, Chirag
- Paterson, Joan
- Payne, Stewart
- Prescott, Katrina
- Procter, Annie
- Purnell, Hellen
- Randall, Josh
- Raymond, Lucy
- Rice, Debbie
- Robert, Leema
- Samant, Shalaka
- Selby, Ann
- Sequeira, Cheryl
- Shears, Debbie
- Smith, Audrey
- Smith, Kath
- Splitt, Miranda
- Squires, Miranda
- Tomkins, Susan
- Treacy, Becky
- Tysoe, Carolyn
- Vasudevan, Pradeep
- Vijayarangakannan, Parthiban
- Vogt, Julie
- Wakeling, Emma
- Whiteford, Margo
- Wilcox, Sarah
- Wilkinson, Emily
- Firth, Helen V.
- Wright, Caroline F.
- FitzPatrick, David R.
2018
Volltextzugriff (PDF)
The New England journal of medicine, 2023-04, Vol.388 (17), p.1559-1571
- Wright, Caroline F.
- Campbell, Patrick
- Eberhardt, Ruth Y.
- Aitken, Stuart
- Perrett, Daniel
- Brent, Simon
- Danecek, Petr
- Gardner, Eugene J.
- Chundru, V. Kartik
- Lindsay, Sarah J.
- Andrews, Katrina
- Hampstead, Juliet
- Kaplanis, Joanna
- Samocha, Kaitlin E.
- Middleton, Anna
- Foreman, Julia
- Hobson, Rachel J.
- Parker, Michael J.
- Martin, Hilary C.
- FitzPatrick, David R.
- Hurles, Matthew E.
- Firth, Helen V.
2023
Volltextzugriff (PDF)
Nature communications, 2021-01, Vol.12 (1), p.627-627, Article 627
2021
Volltextzugriff (PDF)
The Journal of thoracic and cardiovascular surgery, 2023-05, Vol.165 (5), p.1815-1823.e8
- Pienta, Michael J.
- Theurer, Patricia F.
- He, Chang
- Zehr, Kenton
- Drake, Daniel
- Murphy, Edward
- Bolling, Steven F.
- Romano, Matthew A.
- Prager, Richard L.
- Thompson, Michael P.
- Ailawadi, Gorav
- Martin, David
- George, Kristopher
- Batra, Sanjay
- Liakonis, Chris
- Dabir, Reza
- Shannon, Francis
- Robinson, Philip
- Delucia, Alphonse
- Kaakeh, Bakri
- Mandal, Kaushik
- Simonetti, Vincent
- Nemeh, Hassan
- Alnajjar, Raed
- Holmes, Robert
- Gandhi, Divyakant
- Minanov, Kristijan
- Talbott, J.D.
- Martin, James
- Downey, Richard
- Collar, Alonson
- Lall, Shelly
- Pridjian, Ara
- Fanning, Justin
- Baghelai, Kourish
- Pruitt, Andrew
- Schwartz, Charles
- Kim, Karen
- Blakeman, Bradfod
2023
Volltextzugriff (PDF)
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
Volltextzugriff (PDF)
Gut, 2020-05, Vol.69 (5), p.811
2020
Volltextzugriff (PDF)
European journal of human genetics : EJHG, 2023-11, Vol.31 (11), p.1261-1269
2023
Volltextzugriff (PDF)
Familial cancer, 2021-10, Vol.20 (4), p.337-348
2021
Volltextzugriff (PDF)
American journal of human genetics, 2019-06, Vol.104 (6), p.1210-1222
- Abou Jamra, Rami
- Accogli, Andrea
- Amburgey, Kimberly
- Basinger, Alice A.
- Ceulemans, Sophia
- Charles, Perrine
- McRae, Jeremy F.
- Rajan, Diana
- Ambridge, Kirsty
- Jones, Philip
- Jones, Wendy D.
- Ahmed, Munaza
- Anjum, Uruj
- Armstrong, Ruth
- Barnicoat, Angela
- Bennett, Chris
- Blair, Edward
- Blyth, Moira
- Bourdon, Louise
- Brady, Angela
- Burn, John
- Canham, Natalie
- Cilliers, Deirdre
- Clayton-Smith, Jill
- Coates, Andrea
- Cooper, Nicola
- Dabir, Tabib
- Davies, Sally
- Dean, John
- Devlin, Gemma
- Donnai, Dian
- Donnelly, Carina
- Evans, Karenza
- Fendick, Tina
- Goodship, Judith
- Green, Andrew
- Harrison, Lucy
- Holden, Simon
- Jarvis, Joanna
- Johnson, Diana
- Jones, Elizabeth
- Kumar, V. K. Ajith
- Lachlan, Katherine
- Langman, Caroline
- Maye, Una
- McMullan, Dominic J.
- McWilliam, Catherine
- Metcalfe, Kay
- Norman, Andrew
- Ogilvie, Caroline
- Park, Soo-Mi
- Phipps, Julie
- Prescott, Katrina
- Procter, Annie
- Purnell, Hellen
- Ross, Alison
- Sampson, Julian
- Shannon, Nora
- Skitt, Zara
- Stewart, Fiona
- Stewart, Helen
- Swaminathan, Ganesh Jawahar
- Taylor, Cat
- Tein, Mark
- Treacy, Becky
- Vandersteen, Anthony
- Wallwark, Sarah
- Waters, Jonathon
- Weber, Astrid
- Whiteford, Margo
- Widaa, Sara
- Wilcox, Sarah
- Wilkinson, Emily
- Parker, Michael
- FitzPatrick, David R.
- Demurger, Florence
- Eiset, Saga Elise
- Ferrarini, Alessandra
- Haack, Tobias B.
- Hashim, Mona
- Jonasson, Amy R.
- Kok, Fernando
- Marcelis, Carlo L.M.
- McWalter, Kirsty
- Mercimek-Andrews, Saadet
- Person, Richard
- Ramelli, Gian Paolo
- Rauch, Anita
- Sanchez-Valle, Amarilis
- Sattar, Shifteh
- Saunders, Carol
- Steindl, Katharina
- Syrbe, Steffen
- Taylor, Jenny C.
- Trauner, Doris A.
- Vogel, Ida
- Widjaja, Elysa
- Zak, Jaroslav
- Banka, Siddharth
- Rodan, Lance H.
2019
Volltextzugriff (PDF)
American journal of human genetics, 2019-05, Vol.104 (5), p.948-956
- Reich, Adi
- Cross, J. Helen
- Scheffer, Ingrid E.
- Krishnappa, Netravathi
- Awada, Jana
- Baralle, Diana
- Bernhard, Birgitta
- Clasper, Susan
- Clayton-Smith, Jill
- Cresswell, Lara
- Donaldson, Alan
- Ellis, Ian
- Gaunt, Lorraine
- He, Liu
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- Kumar, Dhavendra
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- McCann, Emma
- McKee, Shane
- Mugalaasi, Hood
- Murphy, Helen
- Newbury-Ecob, Ruth
- Pilz, Daniela T.
- Pollard, Martin
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- Saggar, Anand
- Scott, Richard
- Shearing, Emma
- Smithson, Sarah
- Sneddon, Linda
- Suri, Mohnish
- Tatton-Brown, Kate
- Thomson, Jenny
- Torokwa, Audrey
- Varghese, Vinod
- Yau, Michael
- Artigas, Maria Soler
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- Hart, Deborah
- Langford, Cordelia
- Lawson, Daniel
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- O'Donnovan, Michael
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- Paunio, Tiina
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- Sun, Jianping
- Suvisaari, Jaana
- Tachmazidou, Ionna
- Williamson, Kathleen A.
- Wong, Kim
- Alachkar, Hana
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- Attwood, Antony
- Austin, Steve
- Bennett, David
- Bibi, Shahnaz
- Bleda, Marta
- Boggard, Harm
- Bradley, John R.
- Browning, Michael
- Clement, Emma
- Doffinger, Rainer
- Drewe, Elizabeth
- Frary, Amy
- Ghataorhe, Pavandeep K.
- Greenhalgh, Alan
- Hackett, Scott
- Hadinnapola, Charaka
- Heemskerk, Johan W.M.
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- James, Roger
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- Lawrie, Allan
- Lentaigne, Claire
- Maimaris, Jesmeen
- Maw, Anna
- Megy, Karyn
- Moledina, Shahin
- Morrell, Nicholas
- Nejentsev, Sergey
- Polwarth, Gary
- Quinti, Isabella
- Raymond, F. Lucy
- Samarghitean, Crina
- Sanchis-Juan, Alba
- Southgate, Laura
- Stauss, Hans
- Thrasher, Adrian
- Trembath, Richard
- Turro, Ernest
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2019
Volltextzugriff (PDF)
British journal of cancer, 2020-02, Vol.122 (3), p.329-332
2020
Volltextzugriff (PDF)
Journal of medical genetics, 2021-08, Vol.58 (8), p.579
2021
Volltextzugriff (PDF)
Genetics in medicine, 2024-02, Vol.26 (2), p.101023, Article 101023
- Mis, Emily K.
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- Ionita, Cristian
- Darbinyan, Armine
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- McKee, Shane
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- O’Driscoll, Mary
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- Roworth, Wendy
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- Jewell, Rosalyn
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2024
Volltextzugriff (PDF)
Nature communications, 2019-05, Vol.10 (1), p.2079-2079, Article 2079
- Snijders Blok, Lot
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- Ehresmann, Sophie
- Takaku, Motoki
- Venselaar, Hanka
- Rodan, Lance H
- Nowak, Catherine B
- Douglas, Jessica
- Swoboda, Kathryn J
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- 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
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- 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
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- Campeau, Philippe M
2019
Volltextzugriff (PDF)
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
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