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Nature genetics, 2017-02, Vol.49 (2), p.223-237
- Meyer, Esther
- Carss, Keren J
- Rankin, Julia
- Nichols, John M E
- Grozeva, Detelina
- Joseph, Agnel P
- Mencacci, Niccolo E
- Papandreou, Apostolos
- Ng, Joanne
- Barral, Serena
- Ngoh, Adeline
- Ben-Pazi, Hilla
- Willemsen, Michel A
- Arkadir, David
- Barnicoat, Angela
- Bergman, Hagai
- Bhate, Sanjay
- Boys, Amber
- Darin, Niklas
- Foulds, Nicola
- Gutowski, Nicholas
- Hills, Alison
- Houlden, Henry
- Hurst, Jane A
- Israel, Zvi
- Kaminska, Margaret
- Limousin, Patricia
- Lumsden, Daniel
- McKee, Shane
- Misra, Shibalik
- Mohammed, Shekeeb S
- Nakou, Vasiliki
- Nicolai, Joost
- Nilsson, Magnus
- Pall, Hardev
- Peall, Kathryn J
- Peters, Gregory B
- Prabhakar, Prab
- Reuter, Miriam S
- Rump, Patrick
- Segel, Reeval
- Sinnema, Margje
- Smith, Martin
- Turnpenny, Peter
- White, Susan M
- Wieczorek, Dagmar
- Wiethoff, Sarah
- Wilson, Brian T
- Winter, Gidon
- Wragg, Christopher
- Pope, Simon
- Heales, Simon J H
- Morrogh, Deborah
- Pittman, Alan
- Carr, Lucinda J
- Perez-Dueñas, Belen
- Lin, Jean-Pierre
- Reis, Andre
- Gahl, William A
- Toro, Camilo
- Bhatia, Kailash P
- Wood, Nicholas W
- Kamsteeg, Erik-Jan
- Chong, Wui K
- Gissen, Paul
- Topf, Maya
- Dale, Russell C
- Chubb, Jonathan R
- Raymond, F Lucy
- Kurian, Manju A
2017
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Brain (London, England : 1878), 2020-11, Vol.143 (11), p.3242-3261
- Cif, Laura
- Demailly, Diane
- Lin, Jean-Pierre
- Barwick, Katy E
- Abela, Lucia
- Malhotra, Sony
- Chong, Wui K
- Sanchis-Juan, Alba
- Trump, Natalie
- Meyer, Esther
- Vasques, Xavier
- Rankin, Julia
- Allain, Meredith W
- Applegate, Carolyn D
- Attaripour Isfahani, Sanaz
- Baleine, Julien
- Balint, Bettina
- Bassetti, Jennifer A
- Baple, Emma L
- Bhatia, Kailash P
- Blanchet, Catherine
- Burglen, Lydie
- Cambonie, Gilles
- Seng, Emilie Chan
- Bastaraud, Sandra Chantot
- Cyprien, Fabienne
- Coubes, Christine
- d'Hardemare, Vincent
- Doja, Asif
- Dorison, Nathalie
- Doummar, Diane
- Dy-Hollins, Marisela E
- Farrelly, Ellyn
- Fitzpatrick, David R
- Fearon, Conor
- Fieg, Elizabeth L
- Fogel, Brent L
- Fox, Rachel G
- Gahl, William A
- Galosi, Serena
- Gonzalez, Victoria
- Graves, Tracey D
- Gregory, Allison
- Hallett, Mark
- Hayflick, Susan J
- Hamosh, Ada
- Hully, Marie
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- Jeong, Suh Young
- Krier, Joel B
- Krystal, Sidney
- Kumar, Kishore R
- Laurencin, Chloé
- Lee, Hane
- Lesca, Gaetan
- François, Laurence Lion
- Lynch, Timothy
- Mahant, Neil
- Martinez-Agosto, Julian A
- Milesi, Christophe
- Mondain, Michel
- Morales-Briceno, Hugo
- Ostergaard, John R
- Pal, Swasti
- Pallais, Juan C
- Pavillard, Frédérique
- Petersen, Andrea K
- Polo, Gustavo
- Poulen, Gaetan
- Rinne, Tuula
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- Toro, Camilo
- Topf, Maya
- Coubes, Philippe
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- Kurian, Manju A
2020
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Brain (London, England : 1878), 2019-01, Vol.142 (1), p.50-58
- Van Bergen, Nicole J
- Guo, Yiran
- Rankin, Julia
- Paczia, Nicole
- Becker-Kettern, Julia
- Kremer, Laura S
- Pyle, Angela
- Conrotte, Jean-François
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- Procopis, Peter
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- Ahting, Uwe
- Thorburn, David R
- Prokisch, Holger
- Taylor, Robert W
- Christodoulou, John
- Linster, Carole L
- Ellard, Sian
- Hakonarson, Hakon
2019
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Brain (London, England : 1878), 2013-02, Vol.136 (Pt 2), p.536-548
2013
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American journal of medical genetics. Part A, 2019-04, Vol.179 (4), p.570-578
2019
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American journal of human genetics, 2017-01, Vol.100 (1), p.138-150
- Sleven, Hannah
- Welsh, Seth J.
- Yu, Jing
- Churchill, Mair E.A.
- Wright, Caroline F.
- Henderson, Alex
- Horvath, Rita
- Rankin, Julia
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- Magee, Alex
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- Green, Andrew
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- Armstrong, Linlea
- Lehman, Anna
- Nelson, Tanya N.
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- Clouston, Penny
- Hagman, James
- Németh, Andrea H.
2017
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American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.2972-2980
- Tatton-Brown, Katrina
- Murray, Anne
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2013
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Developmental medicine and child neurology, 2012-06, Vol.54 (6), p.569-574
2012
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BMJ open, 2021-09, Vol.11 (9), p.e049386-e049386
- Wolstencroft, Jeanne
- Hull, Laura
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- Akhtar, Tooba Nadeem
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- Ye, Zheng
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2021
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Oncotarget, 2011-12, Vol.2 (12), p.1127-1133
- Tatton-Brown, Katrina
- Hanks, Sandra
- Ruark, Elise
- Zachariou, Anna
- Duarte, Silvana Del Vecchio
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2011
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Proceedings of the National Academy of Sciences - PNAS, 2000-03, Vol.97 (6), p.2898-2903
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Journal of the peripheral nervous system, 2015-06, Vol.20 (2), p.67-71
2015
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American journal of medical genetics. Part A, 2009-07, Vol.149A (7), p.1407-1414
2009
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Clinical genetics, 2006-10, Vol.70 (4), p.261-274
2006
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American journal of human genetics, 2017-01, Vol.100 (1), p.75-90
- Stephens, Jonathan
- Dewhurst, Eleanor
- Malka, Samantha
- Plagnol, Vincent
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2017
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Nature (London), 2017-02, Vol.542 (7642), p.433-438
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The New England journal of medicine, 2023-04, Vol.388 (17), p.1559-1571
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- 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
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Brain (London, England : 1878), 2019-01, Vol.142 (1), p.50-58
- Van Bergen, Nicole J
- Guo, Yiran
- Rankin, Julia
- Paczia, Nicole
- Becker-Kettern, Julia
- Kremer, Laura S
- Pyle, Angela
- Conrotte, Jean-François
- Ellaway, Carolyn
- Procopis, Peter
- Prelog, Kristina
- Homfray, Tessa
- Baptista, Júlia
- Baple, Emma
- Wakeling, Matthew
- Massey, Sean
- Kay, Daniel P
- Shukla, Anju
- Girisha, Katta M
- Lewis, Leslie E S
- Santra, Saikat
- Power, Rachel
- Daubeney, Piers
- Montoya, Julio
- Ruiz-Pesini, Eduardo
- Kovacs-Nagy, Reka
- Pritsch, Martin
- Ahting, Uwe
- Thorburn, David R
- Prokisch, Holger
- Taylor, Robert W
- Christodoulou, John
- Linster, Carole L
- Ellard, Sian
- Hakonarson, Hakon
2019
Link zum Volltext
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