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Journal of human genetics, 2021-06, Vol.66 (6), p.585-596
2021
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Journal of bone and mineral metabolism, 2017-05, Vol.35 (3), p.338-343
2017
Link zum Volltext
The journal of clinical endocrinology and metabolism, 2016-07, Vol.101 (7), p.2759-2767
- Akinci, Baris
- Onay, Huseyin
- Demir, Tevfik
- Ozen, Samim
- Kayserili, Hulya
- Akinci, Gulcin
- Nur, Banu
- Tuysuz, Beyhan
- Nuri Ozbek, Mehmet
- Gungor, Adem
- Yildirim Simsir, Ilgin
- Altay, Canan
- Demir, Leyla
- Simsek, Enver
- Atmaca, Murat
- Topaloglu, Haluk
- Bilen, Habib
- Atmaca, Hulusi
- Atik, Tahir
- Cavdar, Umit
- Altunoglu, Umut
- Aslanger, Ayca
- Mihci, Ercan
- Secil, Mustafa
- Saygili, Fusun
- Comlekci, Abdurrahman
- Garg, Abhimanyu
2016
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American journal of medical genetics. Part A, 2018-09, Vol.176 (9), p.1976-1980
2018
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Nature communications, 2018-08, Vol.9 (1), p.3087-15, Article 3087
- Dubail, Johanne
- Huber, Céline
- Chantepie, Sandrine
- Sonntag, Stephan
- Tüysüz, Beyhan
- Mihci, Ercan
- Gordon, Christopher T
- Steichen-Gersdorf, Elisabeth
- Amiel, Jeanne
- Nur, Banu
- Stolte-Dijkstra, Irene
- van Eerde, Albertien M
- van Gassen, Koen L
- Breugem, Corstiaan C
- Stegmann, Alexander
- Lekszas, Caroline
- Maroofian, Reza
- Karimiani, Ehsan Ghayoor
- Bruneel, Arnaud
- Seta, Nathalie
- Munnich, Arnold
- Papy-Garcia, Dulce
- De La Dure-Molla, Muriel
- Cormier-Daire, Valérie
2018
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American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2488-2495
2021
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Genetics in medicine, 2020-01, Vol.22 (1), p.124-131
- Meerschaut, Ilse
- De Coninck, Shana
- Steyaert, Wouter
- Barnicoat, Angela
- Bayat, Allan
- Benedicenti, Francesco
- Berland, Siren
- Blair, Edward M
- Breckpot, Jeroen
- de Burca, Anna
- Destrée, Anne
- García-Miñaúr, Sixto
- Green, Andrew J
- Hanna, Bernadette C
- Keymolen, Kathelijn
- Koopmans, Marije
- Lederer, Damien
- Lees, Melissa
- Longman, Cheryl
- Lynch, Sally Ann
- Male, Alison M
- McKenzie, Fiona
- Migeotte, Isabelle
- Mihci, Ercan
- Nur, Banu
- Petit, Florence
- Piard, Juliette
- Plasschaert, Frank S
- Rauch, Anita
- Ribaï, Pascale
- Pacheco, Iratxe Salcedo
- Stanzial, Franco
- Stolte-Dijkstra, Irene
- Valenzuela, Irene
- Varghese, Vinod
- Vasudevan, Pradeep C
- Wakeling, Emma
- Wallgren-Pettersson, Carina
- Coucke, Paul
- De Paepe, Anne
- De Wolf, Daniël
- Symoens, Sofie
- Callewaert, Bert
2020
Link zum Volltext
PLoS genetics, 2017-03, Vol.13 (3), p.e1006683
- Acuna-Hidalgo, Rocio
- Deriziotis, Pelagia
- Steehouwer, Marloes
- Gilissen, Christian
- Graham, Sarah A
- van Dam, Sipko
- Hoover-Fong, Julie
- Telegrafi, Aida B
- Destree, Anne
- Smigiel, Robert
- Lambie, Lindsday A
- Kayserili, Hülya
- Altunoglu, Umut
- Lapi, Elisabetta
- Uzielli, Maria Luisa
- Aracena, Mariana
- Nur, Banu G
- Mihci, Ercan
- Moreira, Lilia M A
- Borges Ferreira, Viviane
- Horovitz, Dafne D G
- da Rocha, Katia M
- Jezela-Stanek, Aleksandra
- Brooks, Alice S
- Reutter, Heiko
- Cohen, Julie S
- Fatemi, Ali
- Smitka, Martin
- Grebe, Theresa A
- Di Donato, Nataliya
- Deshpande, Charu
- Vandersteen, Anthony
- Marques Lourenço, Charles
- Dufke, Andreas
- Rossier, Eva
- Andre, Gwenaelle
- Baumer, Alessandra
- Spencer, Careni
- McGaughran, Julie
- Franke, Lude
- Veltman, Joris A
- De Vries, Bert B A
- Schinzel, Albert
- Fisher, Simon E
- Hoischen, Alexander
- van Bon, Bregje W
- Barsh, Gregory S.
2017
Link zum Volltext
Human mutation, 2010, Vol.31 (1), p.E1071-E1080
- Pangrazio, Alessandra
- Pusch, Michael
- Caldana, Elena
- Frattini, Annalisa
- Lanino, Edoardo
- Tamhankar, Parag M
- Phadke, Shubha
- Lopez, Antonio Gonzalez Meneses
- Orchard, Paul
- Mihci, Ercan
- Abinun, Mario
- Wright, Michael
- Vettenranta, Kim
- Bariæ, Ivo
- Melis, Daniela
- Tezcan, Ilhan
- Baumann, Clarisse
- Locatelli, Franco
- Zecca, Marco
- Horwitz, Edwin
- Mansour, Lamia Sfaihi Ben
- Van Roij, Mirjam
- Vezzoni, Paolo
- Villa, Anna
- Sobacchi, Cristina
2010
Link zum Volltext
Journal of bone and mineral research, 2003-10, Vol.18 (10), p.1740-1747
- Frattini, Annalisa
- Pangrazio, Alessandra
- Susani, Lucia
- Sobacchi, Cristina
- Mirolo, Massimiliano
- Abinun, Mario
- Andolina, Marino
- Flanagan, Adrienne
- Horwitz, Edwin M
- Mihci, Ercan
- Notarangelo, Luigi D
- Ramenghi, Ugo
- Teti, Anna
- Van Hove, Johan
- Vujic, Dragana
- Young, Terri
- Albertini, Alberto
- Orchard, Paul J
- Vezzoni, Paolo
- Villa, Anna
2003
Link zum Volltext
Turkish archives of pediatrics, 2023-07, Vol.58 (4), p.376-381
2023
Link zum Volltext
Journal of child neurology, 2015-05, Vol.30 (6), p.760-763
2015
Link zum Volltext
American journal of human genetics, 2009-12, Vol.85 (6), p.916-922
2009
Link zum Volltext
The journal of pediatric research, 2022-09, Vol.9 (3), p.302-306
2022
Link zum Volltext
Journal of child neurology, 2002-10, Vol.17 (10), p.749-751
2002
Link zum Volltext
Gene, 2019-06, Vol.702, p.83-88
2019
Link zum Volltext
Turkish journal of pediatrics, 2023-01, Vol.65 (1), p.81-95
2023
Link zum Volltext
Turkish journal of pediatrics, 2014-07, Vol.56 (4), p.418-422
2014
Link zum Volltext
Journal of neurosurgery, 2007-04, Vol.106 (4 Suppl), p.308
2007
Link zum Volltext
Pediatric neurology, 2019-10, Vol.99, p.7-15
2019
Link zum Volltext
Turkish journal of medical sciences, 2018-06, Vol.48 (3), p.584-591
2018
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Gene, 2022-05, Vol.823, p.146322-146322, Article 146322
2022
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Journal of dermatology, 2006-03, Vol.33 (3), p.219-222
2006
Link zum Volltext
American journal of medical genetics. Part A, 2019-11, Vol.179 (11), p.2241-2245
2019
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American journal of medical genetics. Part A, 2023-07, Vol.191 (7), p.1814-1825
2023
Link zum Volltext
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