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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Genes & Genomics, 2023, 45(4), , pp.491-505
2023
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Genes, 2024-02, Vol.15 (3), p.306
2024
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Journal of human genetics, 2016-02, Vol.61 (2), p.95-101
2016
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Cell, 2014-07, Vol.158 (2), p.263-276
- Bernier, Raphael
- Golzio, Christelle
- Xiong, Bo
- Stessman, Holly A.
- Coe, Bradley P.
- Penn, Osnat
- Witherspoon, Kali
- Gerdts, Jennifer
- Baker, Carl
- Vulto-van Silfhout, Anneke T.
- Schuurs-Hoeijmakers, Janneke H.
- Fichera, Marco
- Bosco, Paolo
- Buono, Serafino
- Alberti, Antonino
- Failla, Pinella
- Peeters, Hilde
- Steyaert, Jean
- Vissers, Lisenka E.L.M.
- Francescatto, Ludmila
- Mefford, Heather C.
- Rosenfeld, Jill A.
- Bakken, Trygve
- O’Roak, Brian J.
- Pawlus, Matthew
- Moon, Randall
- Shendure, Jay
- Amaral, David G.
- Lein, Ed
- Rankin, Julia
- Romano, Corrado
- de Vries, Bert B.A.
- Katsanis, Nicholas
- Eichler, Evan E.
2014
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Dermatology online journal, 2020-07, Vol.26 (7)
2020
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Nature genetics, 2008-03, Vol.40 (3), p.322-328
- Eichler, Evan E
- Sharp, Andrew J
- Mefford, Heather C
- Li, Kelly
- Baker, Carl
- Skinner, Cindy
- Stevenson, Roger E
- Schroer, Richard J
- Novara, Francesca
- De Gregori, Manuela
- Ciccone, Roberto
- Broomer, Adam
- Casuga, Iris
- Wang, Yu
- Xiao, Chunlin
- Barbacioru, Catalin
- Gimelli, Giorgio
- Bernardina, Bernardo Dalla
- Torniero, Claudia
- Giorda, Roberto
- Regan, Regina
- Murday, Victoria
- Mansour, Sahar
- Fichera, Marco
- Castiglia, Lucia
- Failla, Pinella
- Ventura, Mario
- Jiang, Zhaoshi
- Cooper, Gregory M
- Knight, Samantha J L
- Romano, Corrado
- Zuffardi, Orsetta
- Chen, Caifu
- Schwartz, Charles E
2008
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Genes, 2024-02, Vol.15 (3)
2024
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European journal of human genetics : EJHG, 2016-05, Vol.24 (5), p.652-659
- Koolen, David A
- Pfundt, Rolph
- Linda, Katrin
- Beunders, Gea
- Veenstra-Knol, Hermine E
- Conta, Jessie H
- Fortuna, Ana Maria
- Gillessen-Kaesbach, Gabriele
- Dugan, Sarah
- Halbach, Sara
- Abdul-Rahman, Omar A
- Winesett, Heather M
- Chung, Wendy K
- Dalton, Marguerite
- Dimova, Petia S
- Mattina, Teresa
- Prescott, Katrina
- Zhang, Hui Z
- Saal, Howard M
- Hehir-Kwa, Jayne Y
- Willemsen, Marjolein H
- Ockeloen, Charlotte W
- Jongmans, Marjolijn C
- Van der Aa, Nathalie
- Failla, Pinella
- Barone, Concetta
- Avola, Emanuela
- Brooks, Alice S
- Kant, Sarina G
- Gerkes, Erica H
- Firth, Helen V
- Õunap, Katrin
- Bird, Lynne M
- Masser-Frye, Diane
- Friedman, Jennifer R
- Sokunbi, Modupe A
- Dixit, Abhijit
- Splitt, Miranda
- Kukolich, Mary K
- McGaughran, Julie
- Coe, Bradley P
- Flórez, Jesús
- Nadif Kasri, Nael
- Brunner, Han G
- Thompson, Elizabeth M
- Gecz, Jozef
- Romano, Corrado
- Eichler, Evan E
- de Vries, Bert B A
2016
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Human genetics, 2019-02, Vol.138 (2), p.187-198
2019
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EJD. European journal of dermatology, 2018-01, Vol.28 (1), p.119-120
2018
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Journal of medical genetics, 2013-12, Vol.50 (12), p.802-811
- Schuurs-Hoeijmakers, Janneke H M
- Vulto-van Silfhout, Anneke T
- Vissers, Lisenka E L M
- van de Vondervoort, Ilse I G M
- van Bon, Bregje W M
- de Ligt, Joep
- Gilissen, Christian
- Hehir-Kwa, Jayne Y
- Neveling, Kornelia
- del Rosario, Marisol
- Hira, Gausiya
- Reitano, Santina
- Vitello, Aurelio
- Failla, Pinella
- Greco, Donatella
- Fichera, Marco
- Galesi, Ornella
- Kleefstra, Tjitske
- Greally, Marie T
- Ockeloen, Charlotte W
- Willemsen, Marjolein H
- Bongers, Ernie M H F
- Janssen, Irene M
- Pfundt, Rolph
- Veltman, Joris A
- Romano, Corrado
- Willemsen, Michèl A
- van Bokhoven, Hans
- Brunner, Han G
- de Vries, Bert B A
- de Brouwer, Arjan P M
2013
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European journal of medical genetics, 2017-02, Vol.60 (2), p.93-99
- Calì, Francesco
- Chiavetta, Valeria
- Ruggeri, Giuseppa
- Piccione, Maria
- Selicorni, Angelo
- Palazzo, Daniela
- Bonsignore, Maria
- Cereda, Anna
- Elia, Maurizio
- Failla, Pinella
- Figura, Maria Grazia
- Fiumara, Agata
- Maitz, Silvia
- Luana Mandarà, Giuseppa Maria
- Mattina, Teresa
- Ragalmuto, Alda
- Romano, Corrado
- Ruggieri, Martino
- Salluzzo, Roberto
- Saporoso, Antonino
- Schepis, Carmelo
- Sorge, Giovanni
- Spanò, Maria
- Tortorella, Gaetano
- Romano, Valentino
2017
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American journal of medical genetics. Part A, 2015-12, Vol.167A (12), p.3038-3045
- Mitchell, Elyse
- Douglas, Andrew
- Kjaegaard, Susanne
- Callewaert, Bert
- Vanlander, Arnaud
- Janssens, Sandra
- Yuen, Amy Lawson
- Skinner, Cindy
- Failla, Pinella
- Alberti, Antonino
- Avola, Emanuela
- Fichera, Marco
- Kibaek, Maria
- Digilio, Maria C.
- Hannibal, Mark C.
- den Hollander, Nicolette S.
- Bizzarri, Veronica
- Renieri, Alessandra
- Mencarelli, Maria Antonietta
- Fitzgerald, Tomas
- Piazzolla, Serena
- van Oudenhove, Elke
- Romano, Corrado
- Schwartz, Charles
- Eichler, Evan E.
- Slavotinek, Anne
- Escobar, Luis
- Rajan, Diana
- Crolla, John
- Carter, Nigel
- Hodge, Jennelle C.
- Mefford, Heather C.
2015
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EJD. European journal of dermatology, 2018-02, Vol.28 (1), p.119
2018
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American journal of human genetics, 2009-09, Vol.85 (3), p.394-400
- Giorda, Roberto
- Bonaglia, M. Clara
- Beri, Silvana
- Fichera, Marco
- Novara, Francesca
- Magini, Pamela
- Urquhart, Jill
- Sharkey, Freddie H.
- Zucca, Claudio
- Grasso, Rita
- Marelli, Susan
- Castiglia, Lucia
- Di Benedetto, Daniela
- Musumeci, Sebastiano A.
- Vitello, Girolamo A.
- Failla, Pinella
- Reitano, Santina
- Avola, Emanuela
- Bisulli, Francesca
- Tinuper, Paolo
- Mastrangelo, Massimo
- Fiocchi, Isabella
- Spaccini, Luigina
- Torniero, Claudia
- Fontana, Elena
- Lynch, Sally Ann
- Clayton-Smith, Jill
- Black, Graeme
- Jonveaux, Philippe
- Leheup, Bruno
- Seri, Marco
- Romano, Corrado
- Bernardina, Bernardo dalla
- Zuffardi, Orsetta
2009
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EJD. European journal of dermatology, 2010-07, Vol.20 (4), p.522-523
2010
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American journal of medical genetics. Part A, 2008-05, Vol.146A (10), p.1354-1357
2008
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Journal of pediatric gastroenterology and nutrition, 2001-08, Vol.33 (2), p.139-143
- Bonamico, Margherita
- Mariani, Paolo
- Danesi, Helene Maria
- Crisogianni, Massimo
- Failla, Pinella
- Gemme, Gerolamo
- Quartino, Alberto Rasore
- Giannotti, Aldo
- Castro, Massimo
- Balli, Fiorella
- Lecora, Margherita
- Andria, Generoso
- Guariso, Graziella
- Gabrielli, Orazio
- Catassi, Carlo
- Lazzari, Rosanna
- Balocco, Nicoletta Ansaldi
- De Virgiliis, Stefano
- Culasso, Franco
- Romano, Corrado
2001
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Giornale italiano di dermatologia e venereologia, 2020-04, Vol.155 (2), p.239
2020
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American journal of human genetics, 2009-09, Vol.85 (3), p.419-419
- Giorda, Roberto
- Bonaglia, M. Clara
- Beri, Silvana
- Fichera, Marco
- Novara, Francesca
- Magini, Pamela
- Urquhart, Jill
- Sharkey, Freddie H.
- Zucca, Claudio
- Grasso, Rita
- Marelli, Susan
- Castiglia, Lucia
- Di Benedetto, Daniela
- Musumeci, Sebastiano A.
- Vitello, Girolamo A.
- Failla, Pinella
- Reitano, Santina
- Avola, Emanuela
- Bisulli, Francesca
- Tinuper, Paolo
- Mastrangelo, Massimo
- Fiocchi, Isabella
- Spaccini, Luigina
- Torniero, Claudia
- Fontana, Elena
- Lynch, Sally Ann
- Clayton-Smith, Jill
- Black, Graeme
- Jonveaux, Philippe
- Leheup, Bruno
- Seri, Marco
- Romano, Corrado
- dalla Bernardina, Bernardo
- Zuffardi, Orsetta
2009
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Clinical chemistry (Baltimore, Md.), 2005-12, Vol.51 (12), p.2356-2358
2005
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Clinical chemistry (Baltimore, Md.), 2005, Vol.51 (12), p.2356-2358
2005
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Dermatology (Basel), 2001, Vol.202 (1), p.73-73
2001
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Journal of medical genetics, 2001-01, Vol.38 (1), p.e1-e1
2001
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Down's syndrome, research and practice, 2002, Vol.8 (1), p.25-28
2002
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