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Genetics in medicine, 2018-10, Vol.20 (10), p.1236-1245
- Beyens, Aude
- Albuisson, Juliette
- Boel, Annekatrien
- Al-Essa, Mazen
- Al-Manea, Waheed
- Bonnet, Damien
- Bostan, Ozlem
- Boute, Odile
- Busa, Tiffany
- Canham, Nathalie
- Cil, Ergun
- Coucke, Paul J
- Cousin, Margot A
- Dasouki, Majed
- De Backer, Julie
- De Paepe, Anne
- De Schepper, Sofie
- De Silva, Deepthi
- Devriendt, Koenraad
- De Wandele, Inge
- Deyle, David R
- Dietz, Harry
- Dupuis-Girod, Sophie
- Fontenot, Eudice
- Fischer-Zirnsak, Björn
- Gezdirici, Alper
- Ghoumid, Jamal
- Giuliano, Fabienne
- Diéz, Neus Baena
- Haider, Mohammed Z
- Hardin, Joshua S
- Jeunemaitre, Xavier
- Klee, Eric W
- Kornak, Uwe
- Landecho, Manuel F
- Legrand, Anne
- Loeys, Bart
- Lyonnet, Stanislas
- Michael, Helen
- Moceri, Pamela
- Mohammed, Shehla
- Muiño-Mosquera, Laura
- Nampoothiri, Sheela
- Pichler, Karin
- Prescott, Katrina
- Rajeb, Anna
- Ramos-Arroyo, Maria
- Rossi, Massimiliano
- Salih, Mustafa
- Seidahmed, Mohammed Z
- Schaefer, Elise
- Steichen-Gersdorf, Elisabeth
- Temel, Sehime
- Uysal, Fahrettin
- Vanhomwegen, Marine
- Van Laer, Lut
- Van Maldergem, Lionel
- Warner, David
- Willaert, Andy
- Collins, Tom R
- Taylor, Andrea
- Davis, Elaine C
- Zarate, Yuri
- Callewaert, Bert
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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Orphanet journal of rare diseases, 2019-06, Vol.14 (1), p.138-138, Article 138
2019
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Cell, 2001-11, Vol.107 (4), p.513-523
- Gong, Yaoqin
- Slee, Roger B.
- Fukai, Naomi
- Rawadi, Georges
- Roman-Roman, Sergio
- Reginato, Anthony M.
- Wang, Hongwei
- Cundy, Tim
- Glorieux, Francis H.
- Lev, Dorit
- Zacharin, Margaret
- Oexle, Konrad
- Marcelino, Jose
- Suwairi, Wafaa
- Heeger, Shauna
- Sabatakos, George
- Apte, Suneel
- Adkins, William N.
- Allgrove, Jeremy
- Arslan-Kirchner, Mine
- Batch, Jennifer A.
- Beighton, Peter
- Black, Graeme C.M.
- Boles, Richard G.
- Boon, Laurence M.
- Borrone, Carla
- Brunner, Han G.
- Carle, Georges F.
- Dallapiccola, Bruno
- De Paepe, Anne
- Floege, Barbara
- Halfhide, Melissa Lees
- Hall, Bryan
- Hennekam, Raoul C.
- Hirose, Tatsuo
- Jans, Ab
- Jüppner, Harald
- Kim, Chong Ae
- Keppler-Noreuil, Kim
- Kohlschuetter, Alfried
- LaCombe, Didier
- Lambert, Marie
- Lemyre, Emmanuelle
- Letteboer, Tom
- Peltonen, Leena
- Ramesar, Rajkumar S.
- Romanengo, Marta
- Somer, Hannu
- Steichen-Gersdorf, Elisabeth
- Steinmann, Beat
- Sullivan, Beth
- Superti-Furga, Andrea
- Swoboda, Walter
- van den Boogaard, Marie-José
- Van Hul, Wim
- Vikkula, Miikka
- Votruba, Marcela
- Zabel, Bernhard
- Garcia, Teresa
- Baron, Roland
- Olsen, Bjorn R.
- Warman, Matthew L.
2001
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Human mutation, 2017-04, Vol.38 (4), p.365-372
2017
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Journal für klinische endokrinologie und stoffwechsel, 2023-11, Vol.16 (4), p.132-137
2023
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American journal of human genetics, 2006-07, Vol.79 (1), p.62-66
2006
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Pediatric dermatology, 2007-09, Vol.24 (5), p.536-540
2007
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The journal of clinical endocrinology and metabolism, 2019-03, Vol.104 (3), p.845-855
2019
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Human mutation, 2010-08, Vol.31 (8), p.E1587-E1593
- Ott, Claus E
- Leschik, Gundula
- Trotier, Fabienne
- Brueton, Louise
- Brunner, Han G
- Brussel, Wim
- Guillen-Navarro, Encarna
- Haase, Claudia
- Kohlhase, Juergen
- Kotzot, Dieter
- Lane, Andrew
- Lee-Kirsch, Min Ae
- Morlot, Susanne
- Simon, Marleen E.H
- Steichen-Gersdorf, Elisabeth
- Tegay, David H
- Peters, Hartmut
- Mundlos, Stefan
- Klopocki, Eva
2010
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Journal of clinical research in pediatric endocrinology, 2023-04
2023
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Diabetes care, 2019-07, Vol.42 (7), p.1344-1347
- Dovc, Klemen
- Boughton, Charlotte
- Tauschmann, Martin
- Thabit, Hood
- Bally, Lia
- Allen, Janet M
- Acerini, Carlo L
- Arnolds, Sabine
- de Beaufort, Carine
- Bergenstal, Richard M
- Campbell, Fiona
- Criego, Amy
- Dunger, David B
- Elleri, Daniella
- Evans, Mark L
- Fröhlich-Reiterer, Elke
- Hofer, Sabine
- Kapellen, Thomas
- Leelarathna, Lalantha
- Pieber, Thomas R
- Rami-Merhar, Birgit
- Shah, Viral N
- Sibayan, Judy
- Wilinska, Malgorzata E
- Hovorka, Roman
2019
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Journal für klinische endokrinologie und stoffwechsel, 2023, Vol.16 (4), p.132-137
2023
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The journal of clinical endocrinology and metabolism, 2019-03, Vol.104 (3), p.845
2019
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Science (American Association for the Advancement of Science), 2011-04, Vol.332 (6026), p.240-243
- Edery, Patrick
- Marcaillou, Charles
- Sahbatou, Mourad
- Labalme, Audrey
- Chastang, Joelle
- Touraine, Renaud
- Tubacher, Emmanuel
- Senni, Faiza
- Bober, Michael B.
- Nampoothiri, Sheela
- Jouk, Pierre-Simon
- Steichen, Elisabeth
- Berland, Siren
- Toutain, Annick
- Wise, Carol A.
- Sanlaville, Damien
- Rousseau, Francis
- Clerget-Darpoux, Françoise
- Leutenegger, Anne-Louise
2011
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Journal of medical genetics, 2017-06, Vol.54 (6), p.371
- Bruel, Ange-Line
- Franco, Brunella
- Duffourd, Yannis
- Thevenon, Julien
- Jego, Laurence
- Lopez, Estelle
- Deleuze, Jean-François
- Doummar, Diane
- Giles, Rachel H
- Johnson, Colin A
- Huynen, Martijn A
- Chevrier, Véronique
- Burglen, Lydie
- Morleo, Manuela
- Desguerres, Isabelle
- Pierquin, Geneviève
- Doray, Bérénice
- Gilbert-Dussardier, Brigitte
- Reversade, Bruno
- Steichen-Gersdorf, Elisabeth
- Baumann, Clarisse
- Panigrahi, Inusha
- Fargeot-Espaliat, Anne
- Dieux, Anne
- David, Albert
- Goldenberg, Alice
- Bongers, Ernie
- Gaillard, Dominique
- Argente, Jesús
- Aral, Bernard
- Gigot, Nadège
- St-Onge, Judith
- Birnbaum, Daniel
- Phadke, Shubha R
- Cormier-Daire, Valérie
- Eguether, Thibaut
- Pazour, Gregory J
- Herranz-Pérez, Vicente
- Goldstein, Jaclyn S
- Pasquier, Laurent
- Loget, Philippe
- Saunier, Sophie
- Mégarbané, André
- Rosnet, Olivier
- Leroux, Michel R
- Wallingford, John B
- Blacque, Oliver E
- Nachury, Maxence V
- Attie-Bitach, Tania
- Rivière, Jean-Baptiste
- Faivre, Laurence
- Thauvin-Robinet, Christel
2017
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Pädiatrie und Pädologie, 2021, Vol.56 (2), p.54-58
2021
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Archives of disease in childhood, 2017-07, Vol.102 (7), p.603
2017
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Nature genetics, 2022-02, Vol.54 (2), p.213-213
- Reversade, Bruno
- Escande-Beillard, Nathalie
- Dimopoulou, Aikaterini
- Fischer, Björn
- Chng, Serene C
- Li, Yun
- Shboul, Mohammad
- Tham, Puay-Yoke
- Kayserili, Hülya
- Al-Gazali, Lihadh
- Shahwan, Monzer
- Brancati, Francesco
- Lee, Hane
- O'Connor, Brian D
- Kegler, Mareen Schmidt-von
- Merriman, Barry
- Nelson, Stanley F
- Masri, Amira
- Alkazaleh, Fawaz
- Guerra, Deanna
- Ferrari, Paola
- Nanda, Arti
- Rajab, Anna
- Markie, David
- Gray, Mary
- Nelson, John
- Grix, Arthur
- Sommer, Annemarie
- Savarirayan, Ravi
- Janecke, Andreas R
- Steichen, Elisabeth
- Sillence, David
- Haußer, Ingrid
- Budde, Birgit
- Nürnberg, Gudrun
- Nürnberg, Peter
- Seemann, Petra
- Kunkel, Désirée
- Zambruno, Giovanna
- Dallapiccola, Bruno
- Schuelke, Markus
- Robertson, Stephen
- Hamamy, Hanan
- Wollnik, Bernd
- Van Maldergem, Lionel
- Mundlos, Stefan
- Kornak, Uwe
2022
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Nature genetics, 2009-09, Vol.41 (9), p.1016-1021
- Alkazaleh, Fawaz
- Haußer, Ingrid
- Nanda, Arti
- Sillence, David
- Reversade, Bruno
- Ferrari, Paola
- Rajab, Anna
- Dallapiccola, Bruno
- Kornak, Uwe
- Mundlos, Stefan
- Nürnberg, Gudrun
- Budde, Birgit
- Gray, Mary
- Nürnberg, Peter
- Fischer, Björn
- Seemann, Petra
- Van Maldergem, Lionel
- Escande-Beillard, Nathalie
- Savarirayan, Ravi
- Li, Yun
- Hamamy, Hanan
- Schuelke, Markus
- Chng, Serene C
- Lee, Hane
- Tham, Puay-Yoke
- Markie, David
- Kayserili, Hülya
- Merriman, Barry
- Guerra, Deanna
- Shboul, Mohammad
- Nelson, John
- Shahwan, Monzer
- Masri, Amira
- Nelson, Stanley F
- Dimopoulou, Aikaterini
- Wollnik, Bernd
- Al-Gazali, Lihadh
- O'Connor, Brian D
- Janecke, Andreas R
- Zambruno, Giovanna
- Robertson, Stephen
- Sommer, Annemarie
- Kunkel, Désirée
- Kegler, Mareen Schmidt-von
- Steichen, Elisabeth
- Brancati, Francesco
- Grix, Arthur
2009
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Journal of the Endocrine Society, 2023-10, Vol.7 (Supplement_1)
2023
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Clinical genetics, 2024-02, Vol.105 (2), p.140-149
2024
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European journal of human genetics : EJHG, 2020-04, Vol.28 (4), p.469-479
- Tenorio, Jair
- Alarcón, Pablo
- Arias, Pedro
- Dapía, Irene
- García-Miñaur, Sixto
- Palomares Bralo, María
- Campistol, Jaume
- Climent, Salvador
- Valenzuela, Irene
- Ramos, Sergio
- Monseny, Antonio Martínez
- Grondona, Fermina López
- Botet, Javier
- Serrano, Mercedes
- Solís, Mario
- Santos-Simarro, Fernando
- Álvarez, Sara
- Teixidó-Tura, Gisela
- Fernández Jaén, Alberto
- Gordo, Gema
- Bardón Rivera, María Belén
- Nevado, Julián
- Hernández, Alicia
- Cigudosa, Juan C
- Ruiz-Pérez, Víctor L
- Tizzano, Eduardo F
- Lapunzina, Pablo
2020
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Orphanet journal of rare diseases, 2015-06, Vol.10 (1), p.73-73, Article 73
2015
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Pediatric diabetes, 2016-08, Vol.17 (5), p.385-388
2016
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