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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...Human molecular genetics, 2015-11, Vol.24 (22), p.6374-6389
2015
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The journal of clinical endocrinology and metabolism, 2019-07, Vol.104 (7), p.2925-2930
2019
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Human genomics, 2023-03, Vol.17 (1), p.16-16, Article 16
- Jacquemin, Valerie
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- Touraine, Renaud
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2023
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Annals of clinical and translational neurology, 2022-07, Vol.9 (7), p.1095-1099
2022
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Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea
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Clinical case reports, 2021-12, Vol.9 (12), p.e04882-n/a
2021
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Frontiers in medicine, 2023-05, Vol.9, p.976248-976248
- Massart, Annick
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- Emond, Mary J
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- Soblet, Julie
- Duerinckx, Sarah
- Croes, Didier
- Perazzolo, Camille
- Hruba, Petra
- Daneels, Dorien
- Caljon, Ben
- Sever, Mehmet Sukru
- Pascual, Julio
- Miglinas, Marius
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- Smits, Guillaume
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- Abramowicz, Daniel
- Abramowicz, Marc
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2023
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Molecular genetics & genomic medicine, 2021-09, Vol.9 (9), p.e1768-n/a
- Duerinckx, Sarah
- Désir, Julie
- Perazzolo, Camille
- Badoer, Cindy
- Jacquemin, Valérie
- Soblet, Julie
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- Tunca, Yusuf
- Blaumeiser, Bettina
- Ceulemans, Berten
- Courtens, Winnie
- Debray, François‐Guillaume
- Destree, Anne
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- Keymolen, Kathelijn
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2021
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The Journal of clinical investigation, 2015-09, Vol.125 (9), p.3491-3504
2015
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Journal of investigative dermatology, 2017-01, Vol.137 (1), p.207-216
- Soblet, Julie
- Kangas, Jaakko
- Nätynki, Marjut
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2017
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International journal of dermatology, 2021-07, Vol.60 (7), p.899-900
2021
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European journal of medical genetics, 2023-04, Vol.66 (4), p.104729-104729, Article 104729
2023
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Brain (London, England : 1878), 2018-11, Vol.141 (11), p.3160-3178
- Marini, Carla
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- Rastetter, Agnès
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- Innes, A Micheil
- Alembik, Yves
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- Canafoglia, Laura
- Castellotti, Barbara
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- Mancardi, Maria Margherita
- Clark, Damien R
- Kok, Fernando
- Helbig, Katherine L
- Ichikawa, Shoji
- Sadler, Laurie
- Neupauerová, Jana
- Laššuthova, Petra
- Štěrbová, Katalin
- Laridon, Annick
- Brilstra, Eva
- Koeleman, Bobby
- Lemke, Johannes R
- Zara, Federico
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- Soblet, Julie
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- Moroni, Anna
- DiFrancesco, Jacopo C
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2018
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Journal of Pediatric Endocrinology and Metabolism, 2020-09, Vol.33 (9), p.1237-1240
2020
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American journal of medical genetics. Part A, 2024-05, Vol.194 (10), p.e63727
2024
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Human molecular genetics, 2013-09, Vol.22 (17), p.3438-3448
2013
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Ophthalmic genetics, 2020-01, Vol.41 (1), p.83-87
2020
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Nephrology, dialysis, transplantation, 2023-06, Vol.38 (Supplement_1)
- Massart, Annick
- Danger, Richard
- Olsen, Catharina
- Emond, Mary
- Viklicky, Ondrej
- Jacquemin, Valérie
- Soblet, Julie
- Duerinckx, Sarah
- Croes, Didier
- Perazzolo, Camille
- Hruba, Petra
- Daneels, Dorien
- Caljon, Ben
- Sever, Mehmet Sukru
- Pascual, Julio
- Pirson, Isabelle
- Ghisdal, Lidia
- Smits, Guillaume
- Giral, Magali
- Abramowicz, Daniel
- Abramowicz, Marc
- Brouard, Sophie
2023
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Genetics in medicine, 2019-04, Vol.21 (4), p.837-849
- Mignot, Cyril
- McMahon, Aoife C
- Bar, Claire
- Campeau, Philippe M
- Davidson, Claire
- Buratti, Julien
- Nava, Caroline
- Jacquemont, Marie-Line
- Tallot, Marilyn
- Milh, Mathieu
- Edery, Patrick
- Marzin, Pauline
- Barcia, Giulia
- Barnerias, Christine
- Besmond, Claude
- Bienvenu, Thierry
- Bruel, Ange-Line
- Brunga, Ledia
- Ceulemans, Berten
- Coubes, Christine
- Cristancho, Ana G
- Cunningham, Fiona
- Dehouck, Marie-Bertille
- Donner, Elizabeth J
- Duban-Bedu, Bénédicte
- Dubourg, Christèle
- Gardella, Elena
- Gauthier, Julie
- Geneviève, David
- Gobin-Limballe, Stéphanie
- Goldberg, Ethan M
- Hagebeuk, Eveline
- Hamdan, Fadi F
- Hančárová, Miroslava
- Hubert, Laurence
- Ioos, Christine
- Ichikawa, Shoji
- Janssens, Sandra
- Journel, Hubert
- Kaminska, Anna
- Keren, Boris
- Koopmans, Marije
- Lacoste, Caroline
- Laššuthová, Petra
- Lederer, Damien
- Lehalle, Daphné
- Marjanovic, Dragan
- Métreau, Julia
- Michaud, Jacques L
- Miller, Kathryn
- Minassian, Berge A
- Morales, Joannella
- Moutard, Marie-Laure
- Munnich, Arnold
- Ortiz-Gonzalez, Xilma R
- Pinard, Jean-Marc
- Prchalová, Darina
- Putoux, Audrey
- Quelin, Chloé
- Rosen, Alyssa R
- Roume, Joelle
- Rossignol, Elsa
- Simon, Marleen E H
- Smol, Thomas
- Shur, Natasha
- Shelihan, Ivan
- Štěrbová, Katalin
- Vyhnálková, Emílie
- Vilain, Catheline
- Soblet, Julie
- Smits, Guillaume
- Yang, Samuel P
- van der Smagt, Jasper J
- van Hasselt, Peter M
- van Kempen, Marjan
- Weckhuysen, Sarah
- Helbig, Ingo
- Villard, Laurent
- Héron, Delphine
- Koeleman, Bobby
- Møller, Rikke S
- Lesca, Gaetan
- Helbig, Katherine L
- Nabbout, Rima
- Verbeek, Nienke E
- Depienne, Christel
2019
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European journal of medical genetics, 2021-01, Vol.64 (1), p.104097-104097, Article 104097
2021
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Human mutation, 2020-02, Vol.41 (2), p.512-524
- Duerinckx, Sarah
- Jacquemin, Valérie
- Drunat, Séverine
- Vial, Yoann
- Passemard, Sandrine
- Perazzolo, Camille
- Massart, Annick
- Soblet, Julie
- Racapé, Judith
- Desmyter, Laurence
- Badoer, Cindy
- Papadimitriou, Sofia
- Le Borgne, Yann‐Aël
- Lefort, Anne
- Libert, Frédérick
- De Maertelaer, Viviane
- Rooman, Marianne
- Costagliola, Sabine
- Verloes, Alain
- Lenaerts, Tom
- Pirson, Isabelle
- Abramowicz, Marc
2020
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American journal of medical genetics. Part A, 2018-01, Vol.176 (1), p.201-208
2018
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American journal of medical genetics. Part A, 2020-11, Vol.182 (11), p.2685-2693
2020
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Science advances, 2023-10, Vol.9 (41), p.eadg4479-eadg4479
2023
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Genetics in medicine, 2019-08, Vol.21 (8), p.1897-1898
- Mignot, Cyril
- McMahon, Aoife C
- Bar, Claire
- Campeau, Philippe M
- Davidson, Claire
- Buratti, Julien
- Nava, Caroline
- Jacquemont, Marie-Line
- Tallot, Marilyn
- Milh, Mathieu
- Edery, Patrick
- Marzin, Pauline
- Barcia, Giulia
- Barnerias, Christine
- Besmond, Claude
- Bienvenu, Thierry
- Bruel, Ange-Line
- Brunga, Ledia
- Ceulemans, Berten
- Coubes, Christine
- Cristancho, Ana G
- Cunningham, Fiona
- Dehouck, Marie-Bertille
- Donner, Elizabeth J
- Duban-Bedu, Bénédicte
- Dubourg, Christèle
- Gardella, Elena
- Gauthier, Julie
- Geneviève, David
- Gobin-Limballe, Stéphanie
- Goldberg, Ethan M
- Hagebeuk, Eveline
- Hamdan, Fadi F
- Hančárová, Miroslava
- Hubert, Laurence
- Ioos, Christine
- Ichikawa, Shoji
- Janssens, Sandra
- Journel, Hubert
- Kaminska, Anna
- Keren, Boris
- Koopmans, Marije
- Lacoste, Caroline
- Laššuthová, Petra
- Lederer, Damien
- Lehalle, Daphné
- Marjanovic, Dragan
- Métreau, Julia
- Michaud, Jacques L
- Miller, Kathryn
- Minassian, Berge A
- Morales, Joannella
- Moutard, Marie-Laure
- Munnich, Arnold
- Ortiz-Gonzalez, Xilma R
- Pinard, Jean-Marc
- Prchalová, Darina
- Putoux, Audrey
- Quelin, Chloé
- Rosen, Alyssa R
- Roume, Joelle
- Rossignol, Elsa
- Simon, Marleen E H
- Smol, Thomas
- Shur, Natasha
- Shelihan, Ivan
- Štěrbová, Katalin
- Vyhnálková, Emílie
- Vilain, Catheline
- Soblet, Julie
- Smits, Guillaume
- Yang, Samuel P
- van der Smagt, Jasper J
- van Hasselt, Peter M
- van Kempen, Marjan
- Weckhuysen, Sarah
- Helbig, Ingo
- Villard, Laurent
- Héron, Delphine
- Koeleman, Bobby
- Møller, Rikke S
- Lesca, Gaetan
- Helbig, Katherine L
- Nabbout, Rima
- Verbeek, Nienke E
- Depienne, Christel
2019
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