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Journal of cell science, 2018-04, Vol.131 (8), p.jcs213959-jcs213959
2018
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Nature genetics, 2013-11, Vol.45 (11), p.1300-1308
- Cappello, Silvia
- Gray, Mary J
- Badouel, Caroline
- Lange, Simona
- Einsiedler, Melanie
- Srour, Myriam
- Chitayat, David
- Hamdan, Fadi F
- Jenkins, Zandra A
- Morgan, Tim
- Preitner, Nadia
- Uster, Tami
- Thomas, Jackie
- Shannon, Patrick
- Morrison, Victoria
- Di Donato, Nataliya
- Van Maldergem, Lionel
- Neuhann, Teresa
- Newbury-Ecob, Ruth
- Swinkells, Marielle
- Terhal, Paulien
- Wilson, Louise C
- Zwijnenburg, Petra J G
- Sutherland-Smith, Andrew J
- Black, Michael A
- Markie, David
- Michaud, Jacques L
- Simpson, Michael A
- Mansour, Sahar
- McNeill, Helen
- Götz, Magdalena
- Robertson, Stephen P
2013
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Human mutation, 2020-05, Vol.41 (5), p.865-883
2020
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European journal of clinical investigation, 2024-08, p.e14308
2024
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American journal of human genetics, 2016-08, Vol.99 (2), p.392-406
- Wade, Emma M.
- Daniel, Philip B.
- Jenkins, Zandra A.
- McInerney-Leo, Aideen
- Leo, Paul
- Morgan, Tim
- Addor, Marie Claude
- Adès, Lesley C.
- Bertola, Debora
- Bohring, Axel
- Carter, Erin
- Cho, Tae-Joon
- Duba, Hans-Christoph
- Fletcher, Elaine
- Kim, Chong A.
- Krakow, Deborah
- Morava, Eva
- Neuhann, Teresa
- Superti-Furga, Andrea
- Veenstra-Knol, Irma
- Wieczorek, Dagmar
- Wilson, Louise C.
- Hennekam, Raoul C.M.
- Sutherland-Smith, Andrew J.
- Strom, Tim M.
- Wilkie, Andrew O.M.
- Brown, Matthew A.
- Duncan, Emma L.
- Markie, David M.
- Robertson, Stephen P.
2016
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Cell reports (Cambridge), 2018-12, Vol.25 (10), p.2729-2741.e6
2018
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American journal of medical genetics. Part A, 2024-06, p.e63779-e63779
2024
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The journal of clinical endocrinology and metabolism, 2020-03, Vol.105 (3), p.688-695
2020
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Proceedings of the National Academy of Sciences - PNAS, 2011-07, Vol.108 (28), p.11464-11469
2011
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Human mutation, 2018-01, Vol.39 (1), p.103-113
2018
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American journal of human genetics, 2018-06, Vol.102 (6), p.1115-1125
- Cameron-Christie, Sophia R.
- Wells, Constance F.
- Simon, Marleen
- Wessels, Marja
- Tang, Candy Z.N.
- Wei, Wenhua
- Takei, Riku
- Aarts-Tesselaar, Coranne
- Sandaradura, Sarah
- Sillence, David O.
- Cordier, Marie-Pierre
- Veenstra-Knol, Hermine E.
- Cassina, Matteo
- Ludwig, Kathrin
- Trevisson, Eva
- Bahlo, Melanie
- Markie, David M.
- Jenkins, Zandra A.
- Robertson, Stephen P.
2018
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American journal of medical genetics. Part A, 2021-12, Vol.185 (12), p.3675-3682
2021
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Nature genetics, 2009-01, Vol.41 (1), p.95-100
- Lacombe, Didier
- David, Albert
- Jeffs, Aaron
- Bohring, Axel
- Tchan, Michel
- Wilson, Louise C
- Pearl, Esther
- Cormier-Daire, Valérie
- Hing, Anne V
- Adès, Lesley C
- Stewart, Fiona
- Porteous, Mary E
- Garcia-Miñaur, Sixto
- Robertson, Stephen P
- Jenkins, Zandra A
- Fukuzawa, Ryuji
- Hennekam, Raoul C M
- Morgan, Tim
- Bindoff, Laurence
- Donnai, Dian
- Fiskerstrand, Torunn
- Mansour, Sahar
- Berland, Siren
- Thaller, Christina
- van Kogelenberg, Margriet
2009
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American journal of human genetics, 2019-09, Vol.105 (3), p.669-669
- Cameron-Christie, Sophia R.
- Wells, Constance F.
- Simon, Marleen
- Wessels, Marja
- Tang, Candy Z.N.
- Wei, Wenhua
- Takei, Riku
- Aarts-Tesselaar, Coranne
- Sandaradura, Sarah
- Sillence, David O.
- Cordier, Marie-Pierre
- Veenstra-Knol, Hermine E.
- Cassina, Matteo
- Ludwig, Kathrin
- Trevisson, Eva
- Bahlo, Melanie
- Markie, David M.
- Jenkins, Zandra A.
- Robertson, Stephen P.
2019
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American journal of medical genetics. Part A, 2017-07, Vol.173 (7), p.1739-1746
- Wade, Emma M.
- Jenkins, Zandra A.
- Daniel, Philip B.
- Morgan, Tim
- Addor, Marie C.
- Adés, Lesley C.
- Bertola, Debora
- Bohring, Axel
- Carter, Erin
- Cho, Tae‐Joon
- de Geus, Christa M.
- Duba, Hans‐Christoph
- Fletcher, Elaine
- Hadzsiev, Kinga
- Hennekam, Raoul C. M.
- Kim, Chong A.
- Krakow, Deborah
- Morava, Eva
- Neuhann, Teresa
- Sillence, David
- Superti‐Furga, Andrea
- Veenstra‐Knol, Hermine E.
- Wieczorek, Dagmar
- Wilson, Louise C.
- Markie, David M.
- Robertson, Stephen P.
2017
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Neurogenetics, 2013-05, Vol.14 (2), p.113-121
2013
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American journal of medical genetics. Part A, 2011-10, Vol.155A (10), p.2397-2408
- Holman, Sarah K.
- Daniel, Phil
- Jenkins, Zandra A.
- Herron, Rachel L.
- Morgan, Tim
- Savarirayan, Ravi
- Chow, C.W.
- Bohring, Axel
- Mosel, Annette
- Lacombe, Didier
- Steiner, Bernhard
- Schmitt-Mechelke, Thomas
- Schroter, Barbara
- Raas-Rothschild, Annick
- Miñaur, Sixto Garcia
- Porteous, Mary
- Parker, Michael
- Quarrell, Oliver
- Tapon, Dagmar
- Cormier-Daire, Valérie
- Mansour, Sahar
- Nash, Ruth
- Bindoff, Laurence A.
- Fiskerstrand, Torunn
- Robertson, Stephen P.
2011
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American journal of medical genetics. Part A, 2006-08, Vol.140A (16), p.1726-1736
- Robertson, Stephen P.
- Jenkins, Zandra A.
- Morgan, Timothy
- Adès, Lesley
- Aftimos, Salim
- Boute, Odile
- Fiskerstrand, Torunn
- Garcia-Miñaur, Sixto
- Grix, Arthur
- Green, Andrew
- Kaloustian, Vazken Der
- Lewkonia, Ray
- McInnes, Brenda
- van Haelst, Mieke M.
- Macini, Grazia
- Illés, Tamás
- Mortier, Geert
- Newbury-Ecob, Ruth
- Nicholson, Linda
- Scott, Charles I.
- Ochman, Karolina
- Brożek, Izabela
- Shears, Deborah J.
- Superti-Furga, Andrea
- Suri, Mohnish
- Whiteford, Margo
- Wilkie, Andrew O.M.
- Krakow, Deborah
2006
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European journal of biochemistry, 2003-11, Vol.270 (21), p.4254-4263
2003
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Human mutation, 2022-11, Vol.43 (11), p.1609-1628
- Levy, Michael A.
- Relator, Raissa
- McConkey, Haley
- Pranckeviciene, Erinija
- Kerkhof, Jennifer
- Barat‐Houari, Mouna
- Bargiacchi, Sara
- Biamino, Elisa
- Palomares Bralo, María
- Cappuccio, Gerarda
- Ciolfi, Andrea
- Clarke, Angus
- DuPont, Barbara R.
- Elting, Mariet W.
- Faivre, Laurence
- Fee, Timothy
- Ferilli, Marco
- Fletcher, Robin S.
- Cherick, Florian
- Foroutan, Aidin
- Friez, Michael J.
- Gervasini, Cristina
- Haghshenas, Sadegheh
- Hilton, Benjamin A.
- Jenkins, Zandra
- Kaur, Simranpreet
- Lewis, Suzanne
- Louie, Raymond J.
- Maitz, Silvia
- Milani, Donatella
- Morgan, Angela T.
- Oegema, Renske
- Østergaard, Elsebet
- Pallares, Nathalie R.
- Piccione, Maria
- Plomp, Astrid S.
- Poulton, Cathryn
- Reilly, Jack
- Rius, Rocio
- Robertson, Stephen
- Rooney, Kathleen
- Rousseau, Justine
- Santen, Gijs W. E.
- Santos‐Simarro, Fernando
- Schijns, Josephine
- Squeo, Gabriella M.
- John, Miya St
- Thauvin‐Robinet, Christel
- Traficante, Giovanna
- Sluijs, Pleuntje J.
- Vergano, Samantha A.
- Vos, Niels
- Walden, Kellie K.
- Azmanov, Dimitar
- Balci, Tugce B.
- Banka, Siddharth
- Gecz, Jozef
- Henneman, Peter
- Lee, Jennifer A.
- Mannens, Marcel M. A. M.
- Roscioli, Tony
- Siu, Victoria
- Amor, David J.
- Baynam, Gareth
- Bend, Eric G.
- Boycott, Kym
- Brunetti‐Pierri, Nicola
- Campeau, Philippe M.
- Campion, Dominique
- Christodoulou, John
- Dyment, David
- Esber, Natacha
- Fahrner, Jill A.
- Fleming, Mark D.
- Genevieve, David
- Heron, Delphine
- Husson, Thomas
- Kernohan, Kristin D.
- McNeill, Alisdair
- Menke, Leonie A.
- Merla, Giuseppe
- Prontera, Paolo
- Rockman‐Greenberg, Cheryl
- Schwartz, Charles
- Skinner, Steven A.
- Stevenson, Roger E.
- Vincent, Marie
- Vitobello, Antonio
- Tartaglia, Marco
- Alders, Marielle
- Tedder, Matthew L.
- Sadikovic, Bekim
2022
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Pediatric hematology and oncology, 2007-01, Vol.24 (4), p.237-243
2007
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American journal of human genetics, 2024-04, Vol.111 (4), p.729-741
- Jones, Amy G.
- Aquilino, Matilde
- Tinker, Rory J.
- Duncan, Laura
- Jenkins, Zandra
- Carvill, Gemma L.
- DeWard, Stephanie J.
- Grange, Dorothy K.
- Hajianpour, MJ
- Halliday, Benjamin J.
- Holder-Espinasse, Muriel
- Horvath, Judit
- Maitz, Silvia
- Nigro, Vincenzo
- Morleo, Manuela
- Paul, Victoria
- Spencer, Careni
- Esterhuizen, Alina I.
- Polster, Tilman
- Spano, Alice
- Gómez-Lozano, Inés
- Kumar, Abhishek
- Poke, Gemma
- Phillips, John A.
- Underhill, Hunter R.
- Gimenez, Gregory
- Namba, Takashi
- Robertson, Stephen P.
2024
Volltextzugriff (PDF)
American journal of medical genetics. Part A, 2006-12, Vol.140A (24), p.2840-2840
- Robertson, Stephen P.
- Jenkins, Zandra A.
- Morgan, Timothy
- Adès, Lesley
- Aftimos, Salim
- Boute, Odile
- Fiskerstrand, Torunn
- Garcia-Miñaur, Sixto
- Grix, Arthur
- Green, Andrew
- Kaloustian, Vazken Der
- Lewkonia, Ray
- McInnes, Brenda
- van Haelst, Mieke M.
- Macini, Grazia
- Illés, Tamás
- Mortier, Geert
- Newbury-Ecob, Ruth
- Nicholson, Linda
- Scott, Charles I.
- Ochman, Karolina
- Brożek, Izabela
- Shears, Deborah J.
- Superti-Furga, Andrea
- Suri, Mohnish
- Whiteford, Margo
- Wilkie, Andrew O.M.
- Krakow, Deborah
2006
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Journal of molecular medicine (Berlin, Germany), 2015-07, Vol.93 (7), p.773-782
2015
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Proceedings of the National Academy of Sciences - PNAS, 2011-07, Vol.108 (28), p.11464
2011
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