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The New England journal of medicine, 2007-07, Vol.357 (2), p.135-142
2007
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American journal of human genetics, 2017-08, Vol.101 (2), p.300-310
- Guella, Ilaria
- McKenzie, Marna B.
- Evans, Daniel M.
- Buerki, Sarah E.
- Toyota, Eric B.
- Van Allen, Margot I.
- Adam, Shelin
- Boelman, Cyrus
- Bolbocean, Corneliu
- Candido, Tara
- Eydoux, Patrice
- Horvath, Gabriella
- Huh, Linda
- Nelson, Tanya N.
- Sinclair, Graham
- van Karnebeek, Clara
- Vercauteren, Suzanne
- Suri, Mohnish
- Elmslie, Frances
- Simon, Marleen E.H.
- van Gassen, Koen L.I.
- Héron, Delphine
- Keren, Boris
- Nava, Caroline
- Connolly, Mary B.
- Demos, Michelle
- Farrer, Matthew J.
2017
Link zum Volltext
Frontiers in neurology, 2019-05, Vol.10, p.434-434
- Demos, Michelle
- Guella, Ilaria
- DeGuzman, Conrado
- McKenzie, Marna B
- Buerki, Sarah E
- Evans, Daniel M
- Toyota, Eric B
- Boelman, Cyrus
- Huh, Linda L
- Datta, Anita
- Michoulas, Aspasia
- Selby, Kathryn
- Bjornson, Bruce H
- Horvath, Gabriella
- Lopez-Rangel, Elena
- van Karnebeek, Clara D M
- Salvarinova, Ramona
- Slade, Erin
- Eydoux, Patrice
- Adam, Shelin
- Van Allen, Margot I
- Nelson, Tanya N
- Bolbocean, Corneliu
- Connolly, Mary B
- Farrer, Matthew J
2019
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American journal of human genetics, 2006-09, Vol.79 (3), p.500-513
- Friedman, J.M.
- Baross, Ágnes
- Delaney, Allen D.
- Ally, Adrian
- Arbour, Laura
- Asano, Jennifer
- Bailey, Dione K.
- Barber, Sarah
- Birch, Patricia
- Brown-John, Mabel
- Cao, Manqiu
- Chan, Susanna
- Charest, David L.
- Farnoud, Noushin
- Fernandes, Nicole
- Flibotte, Stephane
- Go, Anne
- Gibson, William T.
- Holt, Robert A.
- Jones, Steven J.M.
- Kennedy, Giulia C.
- Krzywinski, Martin
- Langlois, Sylvie
- Li, Haiyan I.
- McGillivray, Barbara C.
- Nayar, Tarun
- Pugh, Trevor J.
- Rajcan-Separovic, Evica
- Schein, Jacqueline E.
- Schnerch, Angelique
- Siddiqui, Asim
- Van Allen, Margot I.
- Wilson, Gary
- Yong, Siu-Li
- Zahir, Farah
- Eydoux, Patrice
- Marra, Marco A.
2006
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Brain (London, England : 1878), 2017-10, Vol.140 (10), p.2610-2622
- Alcantara, Diana
- Timms, Andrew E
- Gripp, Karen
- Baker, Laura
- Park, Kaylee
- Collins, Sarah
- Cheng, Chi
- Stewart, Fiona
- Mehta, Sarju G
- Saggar, Anand
- Sztriha, László
- Zombor, Melinda
- Caluseriu, Oana
- Mesterman, Ronit
- Van Allen, Margot I
- Jacquinet, Adeline
- Ygberg, Sofia
- Bernstein, Jonathan A
- Wenger, Aaron M
- Guturu, Harendra
- Bejerano, Gill
- Gomez-Ospina, Natalia
- Lehman, Anna
- Alfei, Enrico
- Pantaleoni, Chiara
- Conti, Valerio
- Guerrini, Renzo
- Moog, Ute
- Graham, Jr, John M
- Hevner, Robert
- Dobyns, William B
- O'Driscoll, Mark
- Mirzaa, Ghayda M
2017
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BMC genomics, 2009-11, Vol.10 (1), p.526-526
- Friedman, Jm
- Adam, Shelin
- Arbour, Laura
- Armstrong, Linlea
- Baross, Agnes
- Birch, Patricia
- Boerkoel, Cornelius
- Chan, Susanna
- Chai, David
- Delaney, Allen D
- Flibotte, Stephane
- Gibson, William T
- Langlois, Sylvie
- Lemyre, Emmanuelle
- Li, H Irene
- MacLeod, Patrick
- Mathers, Joan
- Michaud, Jacques L
- McGillivray, Barbara C
- Patel, Millan S
- Qian, Hong
- Rouleau, Guy A
- Van Allen, Margot I
- Yong, Siu-Li
- Zahir, Farah R
- Eydoux, Patrice
- Marra, Marco A
2009
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European journal of medical genetics, 2013-05, Vol.56 (5), p.229-235
2013
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American journal of human genetics, 2011-10, Vol.89 (4), p.551-563
- Talkowski, Michael E.
- Mullegama, Sureni V.
- Rosenfeld, Jill A.
- van Bon, Bregje W.M.
- Shen, Yiping
- Repnikova, Elena A.
- Gastier-Foster, Julie
- Thrush, Devon Lamb
- Kathiresan, Sekar
- Ruderfer, Douglas M.
- Chiang, Colby
- Hanscom, Carrie
- Ernst, Carl
- Lindgren, Amelia M.
- Morton, Cynthia C.
- An, Yu
- Astbury, Caroline
- Brueton, Louise A.
- Lichtenbelt, Klaske D.
- Ades, Lesley C.
- Fichera, Marco
- Romano, Corrado
- Innis, Jeffrey W.
- Williams, Charles A.
- Bartholomew, Dennis
- Van Allen, Margot I.
- Parikh, Aditi
- Zhang, Lilei
- Wu, Bai-Lin
- Pyatt, Robert E.
- Schwartz, Stuart
- Shaffer, Lisa G.
- de Vries, Bert B.A.
- Gusella, James F.
- Elsea, Sarah H.
2011
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American journal of human genetics, 2020-03, Vol.106 (3), p.405-411
- Nabais Sá, Maria J.
- El Tekle, Geniver
- de Brouwer, Arjan P.M.
- Sawyer, Sarah L.
- del Gaudio, Daniela
- Parker, Michael J.
- Kanani, Farah
- van den Boogaard, Marie-José H.
- van Gassen, Koen
- Van Allen, Margot I.
- Wierenga, Klaas
- Purcarin, Gabriela
- Elias, Ellen Roy
- Begtrup, Amber
- Keller-Ramey, Jennifer
- Bernasocchi, Tiziano
- van de Wiel, Laurens
- Gilissen, Christian
- Venselaar, Hanka
- Pfundt, Rolph
- Vissers, Lisenka E.L.M.
- Theurillat, Jean-Philippe P.
- de Vries, Bert B.A.
2020
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American journal of medical genetics, 2004-01, Vol.124A (2), p.158-164
2004
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Journal of child neurology, 2018-01, Vol.33 (1), p.106-113
2018
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Molecular genetics and metabolism, 2016-01, Vol.117 (1), p.42-48
2016
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Pediatric neurology, 2017-10, Vol.75, p.87-90
2017
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Clinical genetics, 2019-05, Vol.95 (5), p.607-614
- Angius, Andrea
- Uva, Paolo
- Oppo, Manuela
- Buers, Insa
- Persico, Ivana
- Onano, Stefano
- Cuccuru, Gianmauro
- Van Allen, Margot I.
- Hulait, Gurdip
- Aubertin, Gudrun
- Muntoni, Francesco
- Fry, Andrew E.
- Annerén, Göran
- Stattin, Eva‐Lena
- Palomares‐Bralo, María
- Santos‐Simarro, Fernando
- Cucca, Francesco
- Crisponi, Giangiorgio
- Rutsch, Frank
- Crisponi, Laura
2019
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European journal of medical genetics, 2018-05, Vol.61 (5), p.257-261
2018
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American journal of medical genetics. Part A, 2020-03, Vol.182 (3), p.498-503
2020
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Epigenetics & chromatin, 2016-02, Vol.9 (6), p.6-6, Article 6
2016
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Human mutation, 2010-10, Vol.31 (10), p.1142-1154
- Johnston, Jennifer J
- Sapp, Julie C
- Turner, Joyce T
- Amor, David
- Aftimos, Salim
- Aleck, Kyrieckos A
- Bocian, Maureen
- Bodurtha, Joann N
- Cox, Gerald F
- Curry, Cynthia J
- Day, Ruth
- Donnai, Dian
- Field, Michael
- Fujiwara, Ikuma
- Gabbett, Michael
- Gal, Moran
- Graham, John M
- Hedera, Peter
- Hennekam, Raoul C.M
- Hersh, Joseph H
- Hopkin, Robert J
- Kayserili, Hülya
- Kidd, Alexa M.J
- Kimonis, Virginia
- Lin, Angela E
- Lynch, Sally Ann
- Maisenbacher, Melissa
- Mansour, Sahar
- McGaughran, Julie
- Mehta, Lakshmi
- Murphy, Helen
- Raygada, Margarita
- Robin, Nathaniel H
- Rope, Alan F
- Rosenbaum, Kenneth N
- Schaefer, G. Bradley
- Shealy, Amy
- Smith, Wendy
- Soller, Maria
- Sommer, Annmarie
- Stalker, Heather J
- Steiner, Bernhard
- Stephan, Mark J
- Tilstra, David
- Tomkins, Susan
- Trapane, Pamela
- Tsai, Anne Chun-Hui
- Van Allen, Margot I
- Vasudevan, Pradeep C
- Zabel, Bernhard
- Zunich, Janice
- Black, Graeme C.M
- Biesecker, Leslie G
2010
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Journal of cutaneous medicine and surgery, 2017-11, Vol.21 (6), p.564-567
2017
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Birth defects research. A Clinical and molecular teratology, 2008-09, Vol.82 (9), p.622-626
2008
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American journal of human genetics, 2010-12, Vol.87 (6), p.905-914
- McLarren, Keith W.
- Severson, Tesa M.
- du Souich, Christèle
- Stockton, David W.
- Kratz, Lisa E.
- Cunningham, David
- Hendson, Glenda
- Morin, Ryan D.
- Wu, Diane
- Paul, Jessica E.
- An, Jianghong
- Nelson, Tanya N.
- Chou, Athena
- DeBarber, Andrea E.
- Merkens, Louise S.
- Michaud, Jacques L.
- Waters, Paula J.
- Yin, Jingyi
- McGillivray, Barbara
- Demos, Michelle
- Rouleau, Guy A.
- Grzeschik, Karl-Heinz
- Smith, Raffaella
- Tarpey, Patrick S.
- Shears, Debbie
- Schwartz, Charles E.
- Gecz, Jozef
- Stratton, Michael R.
- Arbour, Laura
- Hurlburt, Jane
- Van Allen, Margot I.
- Herman, Gail E.
- Zhao, Yongjun
- Moore, Richard
- Kelley, Richard I.
- Jones, Steven J.M.
- Steiner, Robert D.
- Raymond, F. Lucy
- Marra, Marco A.
- Boerkoel, Cornelius F.
2010
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Neurology. Genetics, 2016-12, Vol.2 (6), p.e120-e120
2016
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American journal of human genetics, 2017-07, Vol.101 (1), p.65-74
- Lehman, Anna
- Thouta, Samrat
- Mancini, Grazia M.S.
- Naidu, Sakkubai
- van Slegtenhorst, Marjon
- McWalter, Kirsty
- Person, Richard
- Mwenifumbo, Jill
- Salvarinova, Ramona
- Adam, Shelin
- du Souich, Christèle
- Elliott, Alison M.
- Nelson, Tanya N.
- van Karnebeek, Clara
- Friedman, Jan M.
- Boelman, Cyrus
- Bolbocean, Corneliu
- Buerki, Sarah E.
- Candido, Tara
- Eydoux, Patrice
- Evans, Daniel M.
- Gibson, William
- Horvath, Gabriella
- Huh, Linda
- Sinclair, Graham
- Tarling, Tamsin
- Toyota, Eric B.
- Townsend, Katelin N.
- Van Allen, Margot I.
- Vercauteren, Suzanne
- Guella, Ilaria
- McKenzie, Marna B.
- Datta, Anita
- Connolly, Mary B.
- Kalkhoran, Somayeh Mojard
- Poburko, Damon
- Farrer, Matthew J.
- Demos, Michelle
- Desai, Sonal
- Claydon, Thomas
2017
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Clinical dysmorphology, 2016-04, Vol.25 (2), p.77
2016
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American journal of medical genetics. Part A, 2007-12, Vol.143A (24), p.2963-2972
2007
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