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Journal of clinical research in pediatric endocrinology, 2022-12, Vol.14 (4), p.475-480
2022
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Nucleic acids research, 2024-02, Vol.52 (4), p.e18
2024
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American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2325-2334
2021
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American journal of human genetics, 2008-06, Vol.82 (6), p.1290-1305
2008
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PloS one, 2018-11, Vol.13 (11), p.e0208324-e0208324
2018
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Journal of bone and mineral research, 2019-10, Vol.34 (10), p.1873-1879
2019
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Journal of human genetics, 2018-06, Vol.63 (6), p.769-774
2018
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Journal of human genetics, 2017-08, Vol.62 (8), p.797-801
2017
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Pigment cell and melanoma research, 2008-10, Vol.21 (5), p.583-587
2008
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Molecular vision, 2022, Vol.28, p.57-69
2022
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Human molecular genetics, 2012-02, Vol.21 (4), p.776-783
- Khan, Kamron
- Logan, Clare V
- McKibbin, Martin
- Sheridan, Eamonn
- Elçioglu, Nursel H
- Yenice, Ozlem
- Parry, David A
- Fernandez-Fuentes, Narcis
- Abdelhamed, Zakia I.A
- Al-Maskari, Ahmed
- Poulter, James A
- Mohamed, Moin D
- Carr, Ian M
- Morgan, Joanne E
- Jafri, Hussain
- Raashid, Yasmin
- Taylor, Graham R
- Johnson, Colin A
- Inglehearn, Chris F
- Toomes, Carmel
- Ali, Manir
2012
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International journal of molecular sciences, 2018-04, Vol.19 (4), p.1103
2018
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American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2740-2750
- Lehalle, Daphné
- Altunoglu, Umut
- Bruel, Ange‐Line
- Assoum, Mirna
- Duffourd, Yannis
- Masurel, Alice
- Baujat, Geneviève
- Bessieres, Bettina
- Captier, Guillaume
- Edery, Patrick
- Elçioğlu, Nursel H.
- Geneviève, David
- Goldenberg, Alice
- Héron, Delphine
- Grotto, Sarah
- Marlin, Sandrine
- Putoux, Audrey
- Rossi, Massimiliano
- Saugier‐Veber, Pascale
- Triau, Stéphane
- Cabrol, Christelle
- Vézain, Myriam
- Vincent‐Delorme, Catherine
- Thauvin‐Robinet, Christel
- Thevenon, Julien
- Vabres, Pierre
- Callier, Patrick
- Kayserili, Hulya
- Faivre, Laurence
2018
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Journal of human genetics, 2017-03, Vol.62 (3), p.447-451
2017
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Orphanet journal of rare diseases, 2012-01, Vol.7 (1), p.7-7, Article 7
2012
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Human genome variation, 2017-10, Vol.4 (1), p.17040-17040, Article 17040
2017
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Turkish journal of pediatrics, 2012-11, Vol.54 (6), p.617-625
2012
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Human mutation, 2016-09, Vol.37 (9), p.847-864
- Bögershausen, Nina
- Gatinois, Vincent
- Riehmer, Vera
- Kayserili, Hülya
- Becker, Jutta
- Thoenes, Michaela
- Simsek-Kiper, Pelin Özlem
- Barat-Houari, Mouna
- Elcioglu, Nursel H.
- Wieczorek, Dagmar
- Tinschert, Sigrid
- Sarrabay, Guillaume
- Strom, Tim M.
- Fabre, Aurélie
- Baynam, Gareth
- Sanchez, Elodie
- Nürnberg, Gudrun
- Altunoglu, Umut
- Capri, Yline
- Isidor, Bertrand
- Lacombe, Didier
- Corsini, Carole
- Cormier-Daire, Valérie
- Sanlaville, Damien
- Giuliano, Fabienne
- Le Quan Sang, Kim-Hanh
- Kayirangwa, Honorine
- Nürnberg, Peter
- Meitinger, Thomas
- Boduroglu, Koray
- Zoll, Barbara
- Lyonnet, Stanislas
- Tzschach, Andreas
- Verloes, Alain
- Di Donato, Nataliya
- Touitou, Isabelle
- Netzer, Christian
- Li, Yun
- Geneviève, David
- Yigit, Gökhan
- Wollnik, Bernd
2016
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American journal of human genetics, 2019-07, Vol.105 (1), p.132-150
- Pehlivan, Davut
- Bayram, Yavuz
- Gunes, Nilay
- Coban Akdemir, Zeynep
- Shukla, Anju
- Bierhals, Tatjana
- Tabakci, Burcu
- Sahin, Yavuz
- Gezdirici, Alper
- Fatih, Jawid M.
- Gulec, Elif Yilmaz
- Yesil, Gozde
- Punetha, Jaya
- Ocak, Zeynep
- Grochowski, Christopher M.
- Karaca, Ender
- Albayrak, Hatice Mutlu
- Radhakrishnan, Periyasamy
- Erdem, Haktan Bagis
- Sahin, Ibrahim
- Yildirim, Timur
- Bayhan, Ilhan A.
- Bursali, Aysegul
- Elmas, Muhsin
- Yuksel, Zafer
- Ozdemir, Ozturk
- Silan, Fatma
- Yildiz, Onur
- Yesilbas, Osman
- Isikay, Sedat
- Balta, Burhan
- Gu, Shen
- Jhangiani, Shalini N.
- Doddapaneni, Harsha
- Hu, Jianhong
- Muzny, Donna M.
- Boerwinkle, Eric
- Gibbs, Richard A.
- Tsiakas, Konstantinos
- Hempel, Maja
- Girisha, Katta Mohan
- Gul, Davut
- Posey, Jennifer E.
- Elcioglu, Nursel H.
- Tuysuz, Beyhan
- Lupski, James R.
2019
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American journal of human genetics, 2018-08, Vol.103 (2), p.221-231
- Martin, Carol-Anne
- Sarlós, Kata
- Logan, Clare V.
- Thakur, Roshan Singh
- Parry, David A.
- Bizard, Anna H.
- Leitch, Andrea
- Cleal, Louise
- Ali, Nadia Shaukat
- Al-Owain, Mohammed A.
- Allen, William
- Altmüller, Janine
- Aza-Carmona, Miriam
- Barakat, Bushra A.Y.
- Barraza-García, Jimena
- Begtrup, Amber
- Bogliolo, Massimo
- Cho, Megan T.
- Cruz-Rojo, Jaime
- Dhahrabi, Hassan Ali Mundi
- Elcioglu, Nursel H.
- Gorman, Gráinne S.
- Jobling, Rebekah
- Kesterton, Ian
- Kishita, Yoshihito
- Kohda, Masakazu
- Le Quesne Stabej, Polona
- Malallah, Asam Jassim
- Nürnberg, Peter
- Ohtake, Akira
- Okazaki, Yasushi
- Pujol, Roser
- Ramirez, Maria José
- Revah-Politi, Anya
- Shimura, Masaru
- Stevens, Paul
- Taylor, Robert W.
- Turner, Lesley
- Williams, Hywel
- Wilson, Carolyn
- Yigit, Gökhan
- Zahavich, Laura
- Alkuraya, Fowzan S.
- Surralles, Jordi
- Iglesias, Alejandro
- Murayama, Kei
- Wollnik, Bernd
- Dattani, Mehul
- Heath, Karen E.
- Hickson, Ian D.
- Jackson, Andrew P.
2018
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Human genetics, 2017-07, Vol.136 (7), p.821-834
- Bramswig, Nuria C.
- Lüdecke, Hermann-Josef
- Hamdan, Fadi F.
- Altmüller, Janine
- Beleggia, Filippo
- Elcioglu, Nursel H.
- Freyer, Catharine
- Gerkes, Erica H.
- Demirkol, Yasemin Kendir
- Knupp, Kelly G.
- Kuechler, Alma
- Li, Yun
- Lowenstein, Daniel H.
- Michaud, Jacques L.
- Park, Kristen
- Stegmann, Alexander P.A.
- Veenstra-Knol, Hermine E.
- Wieland, Thomas
- Wollnik, Bernd
- Engels, Hartmut
- Strom, Tim M.
- Kleefstra, Tjitske
- Wieczorek, Dagmar
2017
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Nature genetics, 2016-01, Vol.48 (1), p.36-43
- Harley, Margaret E
- Murina, Olga
- Leitch, Andrea
- Higgs, Martin R
- Bicknell, Louise S
- Yigit, Gökhan
- Blackford, Andrew N
- Zlatanou, Anastasia
- Mackenzie, Karen J
- Reddy, Kaalak
- Halachev, Mihail
- McGlasson, Sarah
- Reijns, Martin A M
- Fluteau, Adeline
- Martin, Carol-Anne
- Sabbioneda, Simone
- Elcioglu, Nursel H
- Altmüller, Janine
- Thiele, Holger
- Greenhalgh, Lynn
- Chessa, Luciana
- Maghnie, Mohamad
- Salim, Mahmoud
- Bober, Michael B
- Nürnberg, Peter
- Jackson, Stephen P
- Hurles, Matthew E
- Wollnik, Bernd
- Stewart, Grant S
- Jackson, Andrew P
2016
Link zum Volltext
American journal of human genetics, 2024-05, Vol.111 (5), p.996-996
- Martin, Carol-Anne
- Sarlós, Kata
- Logan, Clare V.
- Thakur, Roshan Singh
- Parry, David A.
- Bizard, Anna H.
- Leitch, Andrea
- Cleal, Louise
- Ali, Nadia Shaukat
- Al-Owain, Mohammed A.
- Allen, William
- Altmüller, Janine
- Aza-Carmona, Miriam
- Barakat, Bushra A.Y.
- Barraza-García, Jimena
- Begtrup, Amber
- Bogliolo, Massimo
- Cho, Megan T.
- Cruz-Rojo, Jaime
- Mundi Dhahrabi, Hassan Ali
- Elcioglu, Nursel H.
- GOSgene
- Gorman, Gráinne S.
- Jobling, Rebekah
- Kesterton, Ian
- Kishita, Yoshihito
- Kohda, Masakazu
- Le Quesne Stabej, Polona
- Malallah, Asam Jassim
- Nürnberg, Peter
- Ohtake, Akira
- Okazaki, Yasushi
- Pujol, Roser
- Ramirez, Maria José
- Revah-Politi, Anya
- Shimura, Masaru
- Stevens, Paul
- Taylor, Robert W.
- Turner, Lesley
- Williams, Hywel
- Wilson, Carolyn
- Yigit, Gökhan
- Zahavich, Laura
- Alkuraya, Fowzan S.
- Surralles, Jordi
- Iglesias, Alejandro
- Murayama, Kei
- Wollnik, Bernd
- Dattani, Mehul
- Heath, Karen E.
- Hickson, Ian D.
- Jackson, Andrew P.
2024
Link zum Volltext
Nature genetics, , Vol.48 (1), p.36-43
- Harley, Margaret E
- Murina, Olga
- Leitch, Andrea
- Higgs, Martin R
- Bicknell, Louise S
- Yigit, Gökhan
- Blackford, Andrew N
- Zlatanou, Anastasia
- Mackenzie, Karen J
- Reddy, Kaalak
- Halachev, Mihail
- McGlasson, Sarah
- Reijns, Martin A M
- Fluteau, Adeline
- Martin, Carol-Anne
- Sabbioneda, Simone
- Elcioglu, Nursel H
- Altmüller, Janine
- Thiele, Holger
- Greenhalgh, Lynn
- Chessa, Luciana
- Maghnie, Mohamad
- Salim, Mahmoud
- Bober, Michael B
- Nürnberg, Peter
- Jackson, Stephen P
- Hurles, Matthew E
- Wollnik, Bernd
- Stewart, Grant S
- Jackson, Andrew P
Link zum Volltext
Journal of medical genetics, 2022-04, Vol.59 (4), p.377
- Tebani, Abdellah
- Sudrié-Arnaud, Bénédicte
- Dabaj, Ivana
- Torre, Stéphanie
- Domitille, Laur
- Snanoudj, Sarah
- Heron, Benedicte
- Levade, Thierry
- Caillaud, Catherine
- Vergnaud, Sabrina
- Saugier-Veber, Pascale
- Coutant, Sophie
- Dranguet, Hélène
- Froissart, Roseline
- Al Khouri, Majed
- Alembik, Yves
- Baruteau, Julien
- Arnoux, Jean-Baptiste
- Brassier, Anais
- Brehin, Anne-Claire
- Busa, Tiffany
- Cano, Aline
- Chabrol, Brigitte
- Coubes, Christine
- Desguerre, Isabelle
- Doco-Fenzy, Martine
- Drenou, Bernard
- Elcioglu, Nursel H
- Elsayed, Solaf
- Fouilhoux, Alain
- Poirsier, Céline
- Goldenberg, Alice
- Jouvencel, Philippe
- Kuster, Alice
- Labarthe, François
- Lazaro, Leila
- Pichard, Samia
- Rivera, Serge
- Roche, Sandrine
- Roggerone, Stéphanie
- Roubertie, Agathe
- Sigaudy, Sabine
- Spodenkiewicz, Marta
- Tardieu, Marine
- Vanhulle, Catherine
- Marret, Stéphane
- Bekri, Soumeya
2022
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