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American journal of human genetics, 2020-05, Vol.106 (5), p.596-610
- Choufani, Sanaa
- Gibson, William T.
- Turinsky, Andrei L.
- Chung, Brian H.Y.
- Wang, Tianren
- Garg, Kopal
- Vitriolo, Alessandro
- Cohen, Ana S.A.
- Cyrus, Sharri
- Goodman, Sarah
- Chater-Diehl, Eric
- Brzezinski, Jack
- Brudno, Michael
- Ming, Luk Ho
- White, Susan M.
- Lynch, Sally Ann
- Clericuzio, Carol
- Temple, I. Karen
- Flinter, Frances
- McConnell, Vivienne
- Cushing, Tom
- Bird, Lynne M.
- Splitt, Miranda
- Kerr, Bronwyn
- Scherer, Stephen W.
- Machado, Jerry
- Imagawa, Eri
- Okamoto, Nobuhiko
- Matsumoto, Naomichi
- Testa, Guiseppe
- Iascone, Maria
- Tenconi, Romano
- Caluseriu, Oana
- Mendoza-Londono, Roberto
- Chitayat, David
- Cytrynbaum, Cheryl
- Tatton-Brown, Katrina
- Weksberg, Rosanna
2020
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PloS one, 2015-04, Vol.10 (4), p.e0123092-e0123092
- Loconte, Daria C
- Grossi, Valentina
- Bozzao, Cristina
- Forte, Giovanna
- Bagnulo, Rosanna
- Stella, Alessandro
- Lastella, Patrizia
- Cutrone, Mario
- Benedicenti, Francesco
- Susca, Francesco C
- Patruno, Margherita
- Varvara, Dora
- Germani, Aldo
- Chessa, Luciana
- Laforgia, Nicola
- Tenconi, Romano
- Simone, Cristiano
- Resta, Nicoletta
- Phillips, Wayne A
2015
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Journal of neurology, 2020, Vol.267 (1), p.203-213
2020
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Human mutation, 2012-03, Vol.33 (3), p.457-466
- Bower, Matthew
- Salomon, Rémi
- Allanson, Judith
- Antignac, Corinne
- Benedicenti, Francesco
- Benetti, Elisa
- Binenbaum, Gil
- Jensen, Uffe B.
- Cochat, Pierre
- DeCramer, Stephane
- Dixon, Joanne
- Drouin, Regen
- Falk, Marni J.
- Feret, Holly
- Gise, Robert
- Hunter, Alasdair
- Johnson, Kisha
- Kumar, Rajiv
- Lavocat, Marie Pierre
- Martin, Laura
- Morinière, Vincent
- Mowat, David
- Murer, Luisa
- Nguyen, Hiep T.
- Peretz-Amit, Gabriela
- Pierce, Eric
- Place, Emily
- Rodig, Nancy
- Salerno, Ann
- Sastry, Sujatha
- Sato, Tadashi
- Sayer, John A.
- Schaafsma, Gerard C.P.
- Shoemaker, Lawrence
- Stockton, David W.
- Tan, Wen-Hann
- Tenconi, Romano
- Vanhille, Philippe
- Vats, Abhay
- Wang, Xinjing
- Warman, Berta
- Weleber, Richard G.
- White, Susan M.
- Wilson-Brackett, Carolyn
- Zand, Dina J.
- Eccles, Michael
- Schimmenti, Lisa A.
- Heidet, Laurence
2012
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European journal of human genetics : EJHG, 2012-07, Vol.20 (7), p.734-741
2012
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American journal of medical genetics. Part A, 2012-07, Vol.158A (7), p.1604-1611
2012
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Genomics (San Diego, Calif.), 2007-11, Vol.90 (5), p.567-573
2007
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Genetics in medicine, 2010-07, Vol.12 (7), p.431-439
- Marini, Monica
- Bocciardi, Renata
- Gimelli, Stefania
- Di Duca, Marco
- Divizia, Maria T.
- Baban, Anwar
- Gaspar, Harald
- Mammi, Isabella
- Garavelli, Livia
- Cerone, Roberto
- Emma, Francesco
- Bedeschi, Maria F.
- Tenconi, Romano
- Sensi, Alberto
- Salmaggi, Andrea
- Bengala, Mario
- Mari, Francesca
- Colussi, Gianluca
- Szczaluba, Krzysztof
- Antonarakis, Stylianos E.
- Seri, Marco
- Lerone, Margherita
- Ravazzolo, Roberto
2010
Link zum Volltext
American journal of medical genetics, 2000-11, Vol.95 (2), p.108-117
2000
Link zum Volltext
Nature genetics, 2007-08, Vol.39 (8), p.1007-1012
- Sarkozy, Anna
- López Siguero, Juan P
- Tartaglia, Marco
- Ackerman, Michael J
- Rossi, Cesare
- Digilio, Maria C
- Mundel, Peter
- Torrente, Isabella
- Tenconi, Romano
- Mazzanti, Laura
- Selicorni, Angelo
- Landstrom, Andrew
- Marino, Bruno
- Bos, J Martijn
- Pogna, Edgar A
- Oishi, Kimihiko
- Gelb, Bruce D
- Martinelli, Simone
- Schackwitz, Wendy
- Pennacchio, Len A
- Carta, Claudio
- Pandit, Bhaswati
- Ustaszewska, Anna
- Zampino, Giuseppe
- Ommen, Steve R
- Dallapiccola, Bruno
- Esposito, Giorgia
- Lepri, Francesca
- Faul, Christian
2007
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American journal of medical genetics, 1999-03, Vol.83 (1), p.43-46
1999
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Human genetics, 1996-12, Vol.98 (6), p.696-699
1996
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American journal of medical genetics, 2000-09, Vol.94 (3), p.254-261
2000
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American journal of medical genetics. Part C, Seminars in medical genetics, 2012-08, Vol.160C (3), p.217-229
- Garcia Segarra, Nuria
- Mittaz, Laureane
- Campos-Xavier, Ana Belinda
- Bartels, Cynthia F.
- Tuysuz, Beyhan
- Alanay, Yasemin
- Cimaz, Rolando
- Cormier-Daire, Valerie
- Di Rocco, Maja
- Duba, Hans-Christoph
- Elcioglu, Nursel H.
- Forzano, Francesca
- Hospach, Toni
- Kilic, Esra
- Kuemmerle-Deschner, Jasmin B.
- Mortier, Geert
- Mrusek, Sonja
- Nampoothiri, Sheela
- Obersztyn, Ewa
- Pauli, Richard M.
- Selicorni, Angelo
- Tenconi, Romano
- Unger, Sheila
- Utine, G. Eda
- Wright, Michael
- Zabel, Bernhard
- Warman, Matthew L.
- Superti-Furga, Andrea
- Bonafé, Luisa
2012
Link zum Volltext
American journal of medical genetics, 1996-04, Vol.62 (4), p.336-338
1996
Link zum Volltext
Journal of medical genetics, 2007-10, Vol.44 (10), p.647-650
2007
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Neurogenetics, 2007, Vol.8 (1), p.57-60
2007
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American journal of medical genetics, 1991-11, Vol.41 (2), p.246-250
1991
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Journal of investigative dermatology, 2001-05, Vol.116 (5), p.806-808
2001
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