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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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Nature genetics, 2009-09, Vol.41 (9), p.1022-1026
- Gelb, Bruce D
- Tartaglia, Marco
- Cordeddu, Viviana
- Di Schiavi, Elia
- Pennacchio, Len A
- Ma'ayan, Avi
- Sarkozy, Anna
- Fodale, Valentina
- Cecchetti, Serena
- Cardinale, Alessio
- Martin, Joel
- Schackwitz, Wendy
- Lipzen, Anna
- Zampino, Giuseppe
- Mazzanti, Laura
- Digilio, Maria C
- Martinelli, Simone
- Flex, Elisabetta
- Lepri, Francesca
- Bartholdi, Deborah
- Kutsche, Kerstin
- Ferrero, Giovanni B
- Anichini, Cecilia
- Selicorni, Angelo
- Rossi, Cesare
- Tenconi, Romano
- Zenker, Martin
- Merlo, Daniela
- Dallapiccola, Bruno
- Iyengar, Ravi
- Bazzicalupo, Paolo
2009
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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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Nature communications, 2022-10, Vol.13 (1), p.6470-6470, Article 6470
- Schöpflin, Robert
- Melo, Uirá Souto
- Moeinzadeh, Hossein
- Heller, David
- Laupert, Verena
- Hertzberg, Jakob
- Holtgrewe, Manuel
- Alavi, Nico
- Klever, Marius-Konstantin
- Jungnitsch, Julius
- Comak, Emel
- Türkmen, Seval
- Horn, Denise
- Duffourd, Yannis
- Faivre, Laurence
- Callier, Patrick
- Sanlaville, Damien
- Zuffardi, Orsetta
- Tenconi, Romano
- Kurtas, Nehir Edibe
- Giglio, Sabrina
- Prager, Bettina
- Latos-Bielenska, Anna
- Vogel, Ida
- Bugge, Merete
- Tommerup, Niels
- Spielmann, Malte
- Vitobello, Antonio
- Kalscheuer, Vera M
- Vingron, Martin
- Mundlos, Stefan
2022
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Journal of neurology, 2020, Vol.267 (1), p.203-213
2020
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International journal of molecular sciences, 2021-01, Vol.22 (3), p.1190
- Guida, Valentina
- Calzari, Luciano
- Fadda, Maria Teresa
- Piceci-Sparascio, Francesca
- Digilio, Maria Cristina
- Bernardini, Laura
- Brancati, Francesco
- Mattina, Teresa
- Melis, Daniela
- Forzano, Francesca
- Briuglia, Silvana
- Mazza, Tommaso
- Bianca, Sebastiano
- Valente, Enza Maria
- Salehi, Leila Bagherjad
- Prontera, Paolo
- Pagnoni, Mario
- Tenconi, Romano
- Dallapiccola, Bruno
- Iannetti, Giorgio
- Corsaro, Luigi
- De Luca, Alessandro
- Gentilini, Davide
2021
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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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Biomedicines, 2021-11, Vol.9 (11), p.1724
2021
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Cell death discovery, 2021-02, Vol.7 (1), p.34-34, Article 34
2021
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Brain & development (Tokyo. 1979), 2016-06, Vol.38 (6), p.590-596
2016
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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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Child's nervous system, 2009-02, Vol.25 (2), p.211-216
2009
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Genomics (San Diego, Calif.), 2007-11, Vol.90 (5), p.567-573
2007
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Environmental health perspectives, 2004-03, Vol.112 (3), p.398-402
2004
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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
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Reproductive toxicology (Elmsford, N.Y.), 2007-07, Vol.24 (1), p.1-8
2007
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Journal of human genetics, 2007-12, Vol.52 (12), p.1011-1017
- Katzaki, Eleni
- Pescucci, Chiara
- Uliana, Vera
- Papa, Filomena Tiziana
- Ariani, Francesca
- Meloni, Ilaria
- Priolo, Manuela
- Selicorni, Angelo
- Milani, Donatella
- Fischetto, Rita
- Celle, Maria Elena
- Grasso, Rita
- Dallapiccola, Bruno
- Brancati, Francesco
- Bordignon, Marta
- Tenconi, Romano
- Federico, Antonio
- Mari, Francesca
- Renieri, Alessandra
- Longo, Ilaria
2007
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Journal of dermatological science, 2007-05, Vol.46 (2), p.147-149
2007
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Journal of medical genetics, 2023-02, Vol.60 (2), p.163
- Mussa, Alessandro
- Leoni, Chiara
- Iacoviello, Matteo
- Carli, Diana
- Ranieri, Carlotta
- Pantaleo, Antonino
- Buonuomo, Paola Sabrina
- Bagnulo, Rosanna
- Ferrero, Giovanni Battista
- Bartuli, Andrea
- Melis, Daniela
- Maitz, Silvia
- Loconte, Daria Carmela
- Turchiano, Antonella
- Piglionica, Marilidia
- De Luisi, Annunziata
- Susca, Francesco Claudio
- Bukvic, Nenad
- Forleo, Cinzia
- Selicorni, Angelo
- Zampino, Giuseppe
- Onesimo, Roberta
- Cappuccio, Gerarda
- Garavelli, Livia
- Novelli, Chiara
- Memo, Luigi
- Morando, Carla
- Della Monica, Matteo
- Accadia, Maria
- Capurso, Martina
- Piscopo, Carmelo
- Cereda, Anna
- Di Giacomo, Marilena Carmela
- Saletti, Veronica
- Spinelli, Alessandro Mauro
- Lastella, Patrizia
- Tenconi, Romano
- Dvorakova, Veronika
- Irvine, Alan D
- Resta, Nicoletta
2023
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American journal of human genetics, 2021-03, Vol.108 (3), p.502-516
- Radio, Francesca Clementina
- Ciolfi, Andrea
- Levy, Michael A.
- Hernández-García, Andrés
- Pedace, Lucia
- Pantaleoni, Francesca
- Liu, Zhandong
- de Boer, Elke
- Jackson, Adam
- Bruselles, Alessandro
- McConkey, Haley
- Stellacci, Emilia
- Lo Cicero, Stefania
- Motta, Marialetizia
- Carrozzo, Rosalba
- McWalter, Kirsty
- Desai, Megha
- Monaghan, Kristin G.
- Telegrafi, Aida
- Philippe, Christophe
- Vitobello, Antonio
- Au, Margaret
- Grand, Katheryn
- Baez, Joanne
- Lindstrom, Kristin
- Kulch, Peggy
- Sebastian, Jessica
- Madan-Khetarpal, Suneeta
- Roadhouse, Chelsea
- MacKenzie, Jennifer J.
- Monteleone, Berrin
- Saunders, Carol J.
- Jean Cuevas, July K.
- Zhou, Dihong
- Sawyer, Sarah L.
- Monteiro, Fabíola Paoli
- Secches, Tania Vertemati
- Kok, Fernando
- Schultz-Rogers, Laura E.
- Morava, Eva
- Klee, Eric W.
- Kemppainen, Jennifer
- Iascone, Maria
- Selicorni, Angelo
- Tenconi, Romano
- Pais, Lynn
- Gallacher, Lyndon
- Turnpenny, Peter D.
- Stals, Karen
- Ellard, Sian
- Cabet, Sara
- Lesca, Gaetan
- Pascal, Joset
- Steindl, Katharina
- Weiss, Karin
- Carter, Melissa T.
- Kalsner, Louisa
- de Vries, Bert B.A.
- van Bon, Bregje W.
- Wevers, Marijke R.
- Pfundt, Rolph
- Stegmann, Alexander P.A.
- Kerr, Bronwyn
- Chandler, Kate E.
- Sheehan, Willow
- Elias, Abdallah F.
- Shinde, Deepali N.
- Towne, Meghan C.
- Robin, Nathaniel H.
- Goodloe, Dana
- Vanderver, Adeline
- Sherbini, Omar
- Bluske, Krista
- Faletra, Flavio
- Musante, Luciana
- Kurtz-Nelson, Evangeline C.
- Earl, Rachel K.
- Anderlid, Britt-Marie
- Morin, Gilles
- van Slegtenhorst, Marjon
- Diderich, Karin E.M.
- Brooks, Alice S.
- Gribnau, Joost
- Boers, Ruben G.
- Finestra, Teresa Robert
- Carter, Lauren B.
- Rauch, Anita
- Gasparini, Paolo
- Boycott, Kym M.
- Barakat, Tahsin Stefan
- Graham, John M.
- Faivre, Laurence
- Banka, Siddharth
- Wang, Tianyun
- Eichler, Evan E.
- Dallapiccola, Bruno
- Vissers, Lisenka E.L.M.
- Sadikovic, Bekim
- Holder, Jimmy Lloyd
- Tartaglia, Marco
2021
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European journal of medical genetics, 2021-12, Vol.64 (12), p.104361-104361, Article 104361
2021
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American journal of medical genetics, 2000-11, Vol.95 (2), p.108-117
2000
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Clinical epigenetics, 2020-09, Vol.12 (1), p.139, Article 139
2020
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