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Nature Genetics, ISSN 1061-4036, 03/2017, Volume 49, Issue 4, pp. 537 - 549
Journal Article
Human Mutation, ISSN 1059-7794, 05/2010, Volume 31, Issue 5, pp. E1319 - E1331
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by Travaglini, Lorena and Brancati, Francesco and Silhavy, Jennifer and Iannicelli, Miriam and Nickerson, Elizabeth and Elkhartoufi, Nadia and Scott, Eric and Spencer, Emily and Gabriel, Stacey and Thomas, Sophie and Ben-Zeev, Bruria and Bertini, Enrico and Boltshauser, Eugen and Chaouch, Malika and Cilio, Maria Roberta and de Jong, Mirjam M and Kayserili, Hulya and Ogur, Gonul and Poretti, Anea and Signorini, Sabrina and Uziel, Graziella and Zaki, Maha S and Johnson, Colin and Attié-Bitach, Tania and Gleeson, Joseph G and Valente, Enza Maria and Ali Pacha, L and Zankl, A and Leventer, R and Grattan-Smith, P and Janecke, A and Koch, J and Freilinger, M and D'Hooghe, M and Sznajer, Y and Vilain, C and van Coster, R and Demerleir, L and Dias, K and Moco, C and Moreira, A and Ae Kim, C and Maegawa, G and Dakovic, I and Loncarevic, D and Mejaski-Bosnjak, V and Petkovic, D and Abdel-Salam, G. M. H and Abdel-Aleem, A and Marti, I and Pinard, J. M and Quijano-Roy, S and Sigaudy, S and de Lonlay, P and Romano, S and Verloes, A and Touraine, R and Koenig, M and Dollfus, H and Flori, E and Fradin, M and Lagier-Tourenne, C and Messer, J and Collignon, P and Penzien, J. M and Bussmann, C and Merkenschlager, A and Philippi, H and Kurlemann, G and Grundmann, K and Dacou-Voutetakis, C and Kitsiou Tzeli, S and Pons, R and Jerney, J and Halldorsson, S and Johannsdottir, J and Ludvigsson, P and Phadke, S. R and Girisha, K. M and Doshi, H and Udani, V and Kaul, M and Stuart, B and Magee, A and Spiegel, R and Shalev, S and Mandel, H and Lev, D and Michelson, M and Idit, M and Ben-Zeev, B and Gershoni-Baruch, R and Ficcadenti, A and Fischetto, R and Gentile, M and Della Monica, M and Pezzani, M and Graziano, C and Seri, M and Benedicenti, F and ... and Int JSRD Study Grp and International JSRD Study Group and the International JSRD Study Group
European journal of human genetics, ISSN 1018-4813, 2013, Volume 21, Issue 10, pp. 1074 - 1078
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Journal of Medical Genetics, ISSN 0022-2593, 12/2007, Volume 44, Issue 12, pp. 750 - 762
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by Travaglini, Lorena and Brancati, Francesco and Attie-Bitach, Tania and Audollent, Sophie and Bertini, Enrico and Kaplan, Josseline and Perrault, Isabelle and Iannicelli, Miriam and Mancuso, Brunella and Rigoli, Luciana and Rozet, Jean-Michel and Swistun, Dominika and Tolentino, Jerlyn and Dallapiccola, Bruno and Gleeson, Joseph G and Valente, Enza Maria and Zankl, A and Leventer, R and Grattan-Smith, P and Janecke, A and D'Hooghe, M and Sznajer, Y and van Coster, R and Demerleir, L and Dias, K and Moco, C and Moreira, A and Kim, C. Ae and Maegawa, G and Petkovic, D and Abdel-Salam, G. M. H and Abdel-Aleem, A and Zaki, M. S and Marti, I and Quijano-Roy, S and Sigaudy, S and de Lonlay, P and Romano, S and Touraine, R and Koenig, M and Lagier-Tourenne, C and Messer, J and Collignon, P and Wolf, N and Philippi, H and Kitsiou Tzeli, S and Halldorsson, S and Johannsdottir, J and Ludvigsson, P and Phadke, S. R and Udani, V and Stuart, B and Magee, A and Lev, D and Michelson, M and Ben-Zeev, B and Fischetto, R and Benedicenti, F and Stanzial, F and Borgatti, R and Accorsi, P and Battaglia, S and Fazzi, E and Giordano, L and Pinelli, L and Boccone, L and Bigoni, S and Ferlini, A and Donati, M. A and Caridi, G and Divizia, M. T and Faravelli, F and Ghiggeri, G and Pessagno, A and Briguglio, M and Briuglia, S and Salpietro, C. D and Tortorella, G and Adami, A and Castorina, P and Lalatta, F and Marra, G and Riva, D and Scelsa, B and Spaccini, L and Uziel, G and del Giudice, E and Laverda, A. M and Ludwig, K and Permunian, A and Suppiej, A and Signorini, S and Uggetti, C and Battini, R and Di Giacomo, M and Cilio, M. R and Di Sabato, M. L and Leuzzi, V and Parisi, P and Pollazzon, M and ... and Int JSRD Study Grp and International JSRD Study Group
American journal of medical genetics. Part A, ISSN 1552-4825, 2009, Volume 149A, Issue 10, pp. 2173 - 2180
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Journal of Medical Genetics, ISSN 0022-2593, 02/2012, Volume 49, Issue 2, pp. 104 - 109
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by Travaglini, Lorena and Brancati, Francesco and Attie-Bitach, Tania and Audollent, Sophie and Bertini, Enrico and Kaplan, Josseline and Perrault, Isabelle and Iannicelli, Miriam and Mancuso, Brunella and Rigoli, Luciana and Rozet, Jean-Michel and Swistun, Dominika and Tolentino, Jerlyn and Dallapiccola, Bruno and Gleeson, Joseph G and Valente, Enza Maria and Zankl, A and Leventer, R and Grattan-Smith, P and Janecke, A and D'Hooghe, M and Sznajer, Y and Van Coster, R and Demerleir, L and Dias, K and Moco, C and Moreira, A and Ae Kim, C and Maegawa, G and Petkovic, D and Abdel-Salam, G.M.H and Abdel-Aleem, A and Zaki, M.S and Marti, I and Quijano-Roy, S and Sigaudy, S and De Lonlay, P and Romano, S and Touraine, R and Koenig, M and Lagier-Tourenne, C and Messer, J and Collignon, P and Wolf, N and Philippi, H and Kitsiou Tzeli, S and Halldorsson, S and Johannsdottir, J and Ludvigsson, P and Phadke, S.R and Udani, V and Stuart, B and Magee, A and Lev, D and Michelson, M and Ben-Zeev, B and Fischetto, R and Benedicenti, F and Stanzial, F and Borgatti, R and Accorsi, P and Battaglia, S and Fazzi, E and Giordano, L and Pinelli, L and Boccone, L and Bigoni, S and Ferlini, A and Donati, M.A and Caridi, G and Divizia, M.T and Faravelli, F and Ghiggeri, G and Pessagno, A and Briguglio, M and Briuglia, S and Salpietro, C.D and Tortorella, G and Adami, A and Castorina, P and Lalatta, F and Marra, G and Riva, D and Scelsa, B and Spaccini, L and Uziel, G and Del Giudice, E and Laverda, A.M and Ludwig, K and Permunian, A and Suppiej, A and Signorini, S and Uggetti, C and Battini, R and Di Giacomo, M and Cilio, M.R and Di Sabato, M.L and Leuzzi, V and Parisi, P and Pollazzon, M and ...
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 10/2009, Volume 149, Issue 10, pp. 2173 - 2180
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Osteoporosis International, ISSN 0937-941X, 7/2016, Volume 27, Issue 7, pp. 2355 - 2365
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JOURNAL OF MEDICAL GENETICS, ISSN 0022-2593, 12/2007, Volume 44, Issue 12, pp. 750 - 762
Using array comparative genome hybridisation (CGH) 41 de novo reciprocal translocations and 18 de novo complex chromosome rearrangements (CCRs) were screened.... 
MALE-INFERTILITY | TRANSLOCATION | RECOMBINATION | RETARDATION | ABNORMALITIES | DNA | GENETICS & HEREDITY | SYNAPTONEMAL COMPLEX | IDENTIFICATION | MARKER CHROMOSOMES | MOLECULAR ANALYSIS
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 11/2018, Volume 26, Issue 11, pp. 1708 - 1712
Nail Patella syndrome (NPS) is a rare autosomal dominant disease characterized by varying degrees of patella, nail, and elbows dysplasia and also ocular and... 
GENE | POLYCYSTIC KIDNEY-DISEASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | FSGS | NAIL-PATELLA-SYNDROME | MUTATIONS | PREDICTION | Hypoplasia | End-stage renal disease | Dysplasia | Phenotypes | Congenital diseases | Hematuria | Kidney diseases | pax2 protein | Proteinuria | Brief Communication
Journal Article
European journal of human genetics, ISSN 1018-4813, 2009, Volume 17, Issue 5, pp. 611 - 619
Journal Article