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Ophthalmologica (Basel), 2011-01, Vol.225 (3), p.127-134
2011
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Kidney international, 2014-11, Vol.86 (5), p.1007-1015
2014
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International journal of molecular sciences, 2024-03, Vol.25 (5), p.2669
2024
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European journal of human genetics : EJHG, 2023-05, Vol.31 (5), p.526-530
2023
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Epilepsia (Copenhagen), 2020-06, Vol.61 (6), p.1142-1155
- Bayat, Allan
- Knaus, Alexej
- Pendziwiat, Manuela
- Afenjar, Alexandra
- Barakat, Tahsin Stefan
- Bosch, Friedrich
- Callewaert, Bert
- Calvas, Patrick
- Ceulemans, Berten
- Chassaing, Nicolas
- Depienne, Christel
- Endziniene, Milda
- Ferreira, Carlos R.
- Moura de Souza, Carolina Fischinger
- Freihuber, Cécile
- Ganesan, Shiva
- Gataullina, Svetlana
- Guerrini, Renzo
- Guerrot, Anne‐Marie
- Hansen, Lars
- Jezela‐Stanek, Aleksandra
- Karsenty, Caroline
- Kievit, Anneke
- Kooy, Frank R.
- Korff, Christian M.
- Kragh Hansen, Johanne
- Larsen, Martin
- Layet, Valérie
- Lesca, Gaetan
- McBride, Kim L.
- Meuwissen, Marije
- Mignot, Cyril
- Montomoli, Martino
- Moore, Hannah
- Naudion, Sophie
- Nava, Caroline
- Nougues, Marie‐Christine
- Parrini, Elena
- Pastore, Matthew
- Schelhaas, Jurgen H.
- Skinner, Steven
- Szczałuba, Krzysztoł
- Thomas, Ashley
- Thomassen, Mads
- Tranebjærg, Lisbeth
- Slegtenhorst, Marjon
- Wolfe, Lynne A.
- Lal, Dennis
- Gardella, Elena
- Bomme Ousager, Lilian
- Brünger, Tobias
- Helbig, Ingo
- Krawitz, Peter
- Møller, Rikke S.
2020
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Brain (London, England : 1878), 2015-08, Vol.138 (Pt 8), p.2191-2205
- Coutelier, Marie
- Goizet, Cyril
- Durr, Alexandra
- Habarou, Florence
- Morais, Sara
- Dionne-Laporte, Alexandre
- Tao, Feifei
- Konop, Juliette
- Stoll, Marion
- Charles, Perrine
- Jacoupy, Maxime
- Matusiak, Raphaël
- Alonso, Isabel
- Tallaksen, Chantal
- Mairey, Mathilde
- Kennerson, Marina
- Gaussen, Marion
- Schule, Rebecca
- Janin, Maxime
- Morice-Picard, Fanny
- Durand, Christelle M
- Depienne, Christel
- Calvas, Patrick
- Coutinho, Paula
- Saudubray, Jean-Marie
- Rouleau, Guy
- Brice, Alexis
- Nicholson, Garth
- Darios, Frédéric
- Loureiro, José L
- Zuchner, Stephan
- Ottolenghi, Chris
- Mochel, Fanny
- Stevanin, Giovanni
2015
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International journal of molecular sciences, 2023-01, Vol.24 (2), p.1562
2023
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Human genetics, 2019-09, Vol.138 (8-9), p.1051-1069
- Ragge, Nicola
- Isidor, Bertrand
- Bitoun, Pierre
- Odent, Sylvie
- Giurgea, Irina
- Cogné, Benjamin
- Deb, Wallid
- Vincent, Marie
- Le Gall, Jessica
- Morton, Jenny
- Lim, Derek
- Le Meur, Guylène
- Zazo Seco, Celia
- Zafeiropoulou, Dimitra
- Bax, Dorine
- Zwijnenburg, Petra
- Arteche, Anara
- Swafiri, Saoud Tahsin
- Cleaver, Ruth
- McEntagart, Meriel
- Kini, Usha
- Newman, William
- Ayuso, Carmen
- Corton, Marta
- Herenger, Yvan
- Jeanne, Médéric
- Calvas, Patrick
- Chassaing, Nicolas
2019
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Genome medicine, 2018-01, Vol.10 (1), p.3-3, Article 3
- Knaus, Alexej
- Pantel, Jean Tori
- Pendziwiat, Manuela
- Hajjir, Nurulhuda
- Zhao, Max
- Hsieh, Tzung-Chien
- Schubach, Max
- Gurovich, Yaron
- Fleischer, Nicole
- Jäger, Marten
- Köhler, Sebastian
- Muhle, Hiltrud
- Korff, Christian
- Møller, Rikke S
- Bayat, Allan
- Calvas, Patrick
- Chassaing, Nicolas
- Warren, Hannah
- Skinner, Steven
- Louie, Raymond
- Evers, Christina
- Bohn, Marc
- Christen, Hans-Jürgen
- van den Born, Myrthe
- Obersztyn, Ewa
- Charzewska, Agnieszka
- Endziniene, Milda
- Kortüm, Fanny
- Brown, Natasha
- Robinson, Peter N
- Schelhaas, Helenius J
- Weber, Yvonne
- Helbig, Ingo
- Mundlos, Stefan
- Horn, Denise
- Krawitz, Peter M
2018
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Nature genetics, 2004-03, Vol.36 (3), p.225-227
- Bomont, Pascale
- Barbot, Clara
- Németh, Andrea H
- M'Zahem, Abderrahim
- Benhassine, Traki
- Aubourg, Patrick
- Schöls, Lüdger
- Calvas, Patrick
- Koenig, Michel
- Tanaka, Makoto
- Dürr, Alexandra
- Sequeiros, Jorge
- Coutinho, Paula
- Brice, Alexis
- Bouslam, Naïma
- Mendonça, Pedro
- Stevanin, Giovanni
- Tazir, Meriem
- Ber, Isabelle Le
- Klur, Sandra
- Pandolfo, Massimo
- Dunne, Eimear
- Moniz, José-Carlos
- Warter, Jean-Marie
- Watanabe, Mitsunori
- Schulz, Jörg B
- Moreira, Maria-Céu
- Shaw, Christopher E
- Tranchant, Christine
- Guimarães, João
- Shizuka-Ikeda, Masami
- Shoji, Mikio
- Pouget, Jean
- Izatt, Louise
2004
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Genome research, 2016-04, Vol.26 (4), p.474
- Chassaing, Nicolas
- Davis, Erica E
- McKnight, Kelly L
- Niederriter, Adrienne R
- Causse, Alexandre
- David, Véronique
- Desmaison, Annaïck
- Lamarre, Sophie
- Vincent-Delorme, Catherine
- Pasquier, Laurent
- Coubes, Christine
- Lacombe, Didier
- Rossi, Massimiliano
- Dufier, Jean-Louis
- Dollfus, Helene
- Kaplan, Josseline
- Katsanis, Nicholas
- Etchevers, Heather C
- Faguer, Stanislas
- Calvas, Patrick
2016
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Journal of human genetics, 2020-05, Vol.65 (5), p.487-491
2020
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Orphanet journal of rare diseases, 2019-12, Vol.14 (1), p.288-288, Article 288
- Grelet, Maude
- Blanck, Véronique
- Sigaudy, Sabine
- Philip, Nicole
- Giuliano, Fabienne
- Khachnaoui, Khaoula
- Morel, Godelieve
- Grotto, Sarah
- Sophie, Julia
- Poirsier, Céline
- Lespinasse, James
- Alric, Laurent
- Calvas, Patrick
- Chalhoub, Gihane
- Layet, Valérie
- Molin, Arnaud
- Colson, Cindy
- Marsili, Luisa
- Edery, Patrick
- Lévy, Nicolas
- De Sandre-Giovannoli, Annachiara
2019
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Human mutation, 2004-04, Vol.23 (4), p.306-317
2004
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Investigative ophthalmology & visual science, 2009-07, Vol.50 (7), p.3116-3127
2009
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American journal of human genetics, 2015-04, Vol.96 (4), p.631-639
- Fares-Taie, Lucas
- Gerber, Sylvie
- Tawara, Akihiko
- Ramirez-Miranda, Arturo
- Douet, Jean-Yves
- Verdin, Hannah
- Guilloux, Antoine
- Zenteno, Juan C.
- Kondo, Hiroyuki
- Moisset, Hugo
- Passet, Bruno
- Yamamoto, Ken
- Iwai, Masaru
- Tanaka, Toshihiro
- Nakamura, Yusuke
- Kimura, Wataru
- Bole-Feysot, Christine
- Vilotte, Marthe
- Odent, Sylvie
- Vilotte, Jean-Luc
- Munnich, Arnold
- Regnier, Alain
- Chassaing, Nicolas
- De Baere, Elfride
- Raymond-Letron, Isabelle
- Kaplan, Josseline
- Calvas, Patrick
- Roche, Olivier
- Rozet, Jean-Michel
2015
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Journal of investigative dermatology, 2007-03, Vol.127 (3), p.568-573
2007
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Human genetics, 2019-09, Vol.138 (8-9), p.793-793
2019
Link zum Volltext
Nature genetics, 1996-12, Vol.14 (4), p.461-464
1996
Link zum Volltext
PloS one, 2009-07, Vol.4 (7), p.e6165-e6165
2009
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Human genetics, 2019-09, Vol.138 (8-9), p.795-798
2019
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European journal of human genetics : EJHG, 2001-05, Vol.9 (5), p.355-363
2001
Link zum Volltext
Clinical case reports, 2015-09, Vol.3 (9), p.757-761
2015
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Lancet neurology, 2022-03, Vol.21 (3), p.225-233
- Coarelli, Giulia
- Heinzmann, Anna
- Ewenczyk, Claire
- Fischer, Clara
- Chupin, Marie
- Monin, Marie-Lorraine
- Hurmic, Hortense
- Calvas, Fabienne
- Calvas, Patrick
- Goizet, Cyril
- Thobois, Stéphane
- Anheim, Mathieu
- Nguyen, Karine
- Devos, David
- Verny, Christophe
- Ricigliano, Vito A G
- Mangin, Jean-François
- Brice, Alexis
- Tezenas du Montcel, Sophie
- Durr, Alexandra
2022
Link zum Volltext
Journal of Medical Genetics, 2005-12, Vol.42 (12), p.881-892
2005
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