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Orphanet journal of rare diseases, 2013-01, Vol.8 (1), p.8-8, Article 8
2013
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Journal of translational internal medicine, 2019-07, Vol.7 (2), p.43-45
2019
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Nature genetics, 2012-11, Vol.44 (11), p.1243-1248
- RICE, Gillian I
- KASHER, Paul R
- JENKINSON, Emma M
- BACINO, Carlos A
- BATTINI, Roberta
- BERTINI, Enrico
- BROGAN, Paul A
- BRUETON, Louise A
- CARPANELLI, Marialuisa
- DE LAET, Corinne
- DE LONLAY, Pascale
- DEL TORO, Mireia
- FORTE, Gabriella M. A
- DESGUERRE, Isabelle
- FAZZI, Elisa
- GARCIA-CAZORLA, Angels
- HEIBERG, Arvid
- KAWAGUCHI, Masakazu
- KUMAR, Ram
- S-M LIN, Jean-Pierre
- LOURENCO, Charles M
- MALE, Alison M
- MARQUES, Wilson
- MANNION, Niamh M
- MIGNOT, Cyril
- OLIVIERI, Ivana
- ORCESI, Simona
- PRABHAKAR, Prab
- RASMUSSEN, Magnhild
- ROBINSON, Robert A
- ROZENBERG, Flore
- SCHMIDT, Johanna L
- STEINDL, Katharina
- TAN, Tiong Y
- GREENWOOD, Sam M
- DER MERWE, William G.van
- VANDERVER, Adeline
- VASSALLO, Grace
- WAKELING, Emma L
- WASSMER, Evangeline
- WHITTAKER, Elizabeth
- LIVINGSTON, John H
- LEBON, Pierre
- SUZUKI, Tamio
- MCLAUGHLIN, Paul J
- SZYNKIEWICZ, Marcin
- KEEGAN, Liam P
- O'CONNELL, Mary A
- LOVELL, Simon C
- CROW, Yanick J
- DICKERSON, Jonathan E
- BHASKAR, Sanjeev S
- ZAMPINI, Massimiliano
- BRIGGS, Tracy A
2012
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The Journal of biological chemistry, 2017-07, Vol.292 (28), p.11980-11991
2017
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Orphanet journal of rare diseases, 2016-06, Vol.11 (1), p.87-87, Article 87
2016
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Annals of clinical and translational neurology, 2022-07, Vol.9 (7), p.1095-1099
2022
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JIMD reports, 2022-07, Vol.63 (4), p.316-321
2022
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Brain & development (Tokyo. 1979), 2005-06, Vol.27 (4), p.304-307
2005
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Pediatric reports, 2021-08, Vol.13 (3), p.444-449
2021
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Journal of pediatric endocrinology & metabolism : JPEM, 2020-01, Vol.33 (1), p.147
- Pinto, Alex
- Evans, Sharon
- Daly, Anne
- Almeida, Manuela Ferreira
- Assoun, Murielle
- Belanger-Quintana, Amaya
- Bernabei, Silvia Maria
- Bollhalder, Sandra
- Cassiman, David
- Champion, Helena
- Chan, Heidi
- Corthouts, Karen
- Dalmau, Jaime
- Boer, Foekje de
- Laet, Corinne De
- Meyer, An de
- Desloovere, An
- Dianin, Alice
- Dixon, Marjorie
- Dokoupil, Katharina
- Dubois, Sandrine
- Eyskens, Francois
- Faria, Ana
- Fasan, Ilaria
- Favre, Elisabeth
- Feillet, François
- Fekete, Anna
- Gallo, Giorgia
- Gingell, Cerys
- Gribben, Joanna
- Hansen, Kit Kaalund
- Horst, Nienke Ter
- Jankowski, Camille
- Janssen-Regelink, Renske
- Jones, Ilana
- Jouault, Catherine
- Kahrs, Gudrun Elise
- Kok, Irene
- Kowalik, Agnieszka
- Laguerre, Catherine
- Verge, Sandrine Le
- Liguori, Alessandra
- Lilje, Rina
- Maddalon, Cornelia
- Mayr, Doris
- Meyer, Uta
- Micciche, Avril
- Och, Ulrike
- Robert, Martine
- Rocha, Júlio César
- Rogozinski, Hazel
- Rohde, Carmen
- Ross, Kathleen
- Saruggia, Isabelle
- Schlune, Andrea
- Singleton, Kath
- Sjoqvist, Elisabeth
- Skeath, Rachel
- Stolen, Linn Helene
- Terry, Allyson
- Timmer, Corrie
- Tomlinson, Lyndsey
- Tooke, Alison
- Kerckhove, Kristel Vande
- van Dam, Esther
- Hurk, Dorine van den
- Ploeg, Liesbeth van der
- van Driessche, Marleen
- van Rijn, Margreet
- Wegberg, Annemiek van
- Vasconcelos, Carla
- Vestergaard, Helle
- Vitoria, Isidro
- Webster, Diana
- White, Fiona
- White, Lucy
- Zweers, Heidi
- MacDonald, Anita
2020
Volltextzugriff (PDF)
Pediatric reports, 2020-10, Vol.12 (3), p.77-85
2020
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Frontiers in pediatrics, 2019-03, Vol.7, p.119
2019
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Developmental medicine and child neurology, 2016-11, Vol.58 (11), p.1106-1107
2016
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The Journal of pediatrics, 2011-05, Vol.158 (5), p.866-867
- Ameloot, Koen, MD
- Vlasselaers, Dirk, MD
- Dupont, Matthias, MD
- Meersseman, Wouter, MD, PhD
- Desmet, Lars, MD, PhD
- Vanhaecke, Johan, MD, PhD
- Vermeer, Nina, MD
- Meyns, Bart, MD, PhD
- Pirenne, Jacques, MD, PhD
- Cassiman, David, MD, PhD
- De Laet, Corinne, MD
- Goyens, Philippe, MD, PhD
- Malekzadeh-Milan, Sophie G., MD
- Biarent, Dominique, MD
- Meulemans, Ann, MD, PhD
- Debray, François-Guillaume, MD, PhD
2011
Volltextzugriff (PDF)
Clinical chemistry (Baltimore, Md.), 2005-04, Vol.51 (4), p.745-752
2005
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Lancet neurology, 2013-12, Vol.12 (12), p.1159-1169
- Rice, Gillian I, PhD
- Forte, Gabriella M A, MPhil
- Szynkiewicz, Marcin, MSc
- Chase, Diana S, PhD
- Aeby, Alec, MD
- Abdel-Hamid, Mohamed S, MSc
- Ackroyd, Sam, MB ChB
- Allcock, Rebecca, FRCPath
- Bailey, Kathryn M, MRCPCH
- Balottin, Umberto, MD
- Barnerias, Christine, MD
- Bernard, Genevieve, MD
- Bodemer, Christine, PhD
- Botella, Maria P, MD
- Cereda, Cristina, PhD
- Chandler, Kate E, MD
- Dabydeen, Lyvia, MRCPCH
- Dale, Russell C, PhD
- De Laet, Corinne, MD
- De Goede, Christian G E L, FRCPCH
- del Toro, Mireia, MD
- Effat, Laila, PhD
- Enamorado, Noemi Nunez, MD
- Fazzi, Elisa, MD
- Gener, Blanca, MD
- Haldre, Madli, BSc
- Lin, Jean-Pierre S-M, PhD
- Livingston, John H, MB ChB
- Lourenco, Charles Marques, MD
- Marques, Wilson, MD
- Oades, Patrick, FRCPCH
- Peterson, Pärt, PhD
- Rasmussen, Magnhild, MD
- Roubertie, Agathe, MD
- Schmidt, Johanna Loewenstein, CGC
- Shalev, Stavit A, MD
- Simon, Rogelio, MD
- Spiegel, Ronen, MD
- Swoboda, Kathryn J, FACMG
- Temtamy, Samia A, PhD
- Vassallo, Grace, MD
- Vilain, Catheline N, MD
- Vogt, Julie, MRCP
- Wermenbol, Vanessa, MD
- Whitehouse, William P, FRCPCH
- Soler, Doriette, MD
- Olivieri, Ivana, MD
- Orcesi, Simona, MD
- Aglan, Mona S, PhD
- Zaki, Maha S, PhD
- Abdel-Salam, Ghada M H, PhD
- Vanderver, Adeline, MD
- Kisand, Kai, PhD
- Rozenberg, Flore, MD
- Lebon, Pierre, MD
- Crow, Yanick J, Prof
2013
Volltextzugriff (PDF)
Archives de pédiatrie : organe officiel de la Société française de pédiatrie, 2020-02, Vol.27 (2), p.95-103
2020
Volltextzugriff (PDF)
The Journal of biological chemistry, 2017-07, Vol.292 (28), p.11980-11991
2017
Volltextzugriff (PDF)
The lancet. Diabetes & endocrinology, 2021-07, Vol.9 (7), p.427-435
2021
Volltextzugriff (PDF)
Orphanet journal of rare diseases, 2014-08, Vol.9 (1), p.107-107, Article 107
- Mayorandan, Sebene
- Meyer, Uta
- Gokcay, Gülden
- Segarra, Nuria Garcia
- de Baulny, Hélène Ogier
- van Spronsen, Francjan
- Zeman, Jiri
- de Laet, Corinne
- Spiekerkoetter, Ute
- Thimm, Eva
- Maiorana, Arianna
- Dionisi-Vici, Carlo
- Moeslinger, Dorothea
- Brunner-Krainz, Michaela
- Lotz-Havla, Amelie Sophia
- Cocho de Juan, José Angel
- Couce Pico, Maria Luz
- Santer, René
- Scholl-Bürgi, Sabine
- Mandel, Hanna
- Bliksrud, Yngve Thomas
- Freisinger, Peter
- Aldamiz-Echevarria, Luis Jose
- Hochuli, Michel
- Gautschi, Matthias
- Endig, Jessica
- Jordan, Jens
- McKiernan, Patrick
- Ernst, Stefanie
- Morlot, Susanne
- Vogel, Arndt
- Sander, Johannes
- Das, Anibh Martin
2014
Volltextzugriff (PDF)
Nature genetics, 2011-02, Vol.43 (2), p.132-137
- Superti-Furga, Andrea
- Lausch, Ekkehart
- Janecke, Andreas
- Bros, Matthias
- Trojandt, Stefanie
- Alanay, Yasemin
- De Laet, Corinne
- Hübner, Christian A
- Meinecke, Peter
- Nishimura, Gen
- Matsuo, Mari
- Hirano, Yoshiko
- Tenoutasse, Sylvie
- Kiss, Andrea
- Machado Rosa, Rafael Fabiano
- Unger, Sharon L
- Renella, Raffaele
- Bonafé, Luisa
- Spranger, Jürgen
- Unger, Sheila
- Zabel, Bernhard
2011
Volltextzugriff (PDF)
Molecular genetics and metabolism, 2024-06, Vol.142 (2), p.108486-108486, Article 108486
- Grünert, Sarah C.
- Gautschi, Matthias
- Baker, Joshua
- Boyer, Monica
- Burlina, Alberto
- Casswall, Thomas
- Corpeleijn, Willemijn
- Çıki, Kismet
- Cotter, Melanie
- Crushell, Ellen
- Derks, Terry G.J.
- Haas, Dorothea
- Kilavuz, Sebile
- Kingma, Sandra D.K.
- Korman, Stanley H.
- Kozek, Anne
- de Laet, Corinne
- Mundy, Helen
- Nassogne, Marie Cecile
- Quintero, Victor
- Rossi, Alessandro
- Spenger, Johannes
- Spiegel, Ronen
- Stephenne, Xavier
- Stojkov, Darko
- Tal, Galit
- Veiga-da Cunha, Maria
- Wortmann, Saskia B.
2024
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Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.341-353
- Heringer, Jana
- Valayannopoulos, Vassili
- Lund, Allan M.
- Wijburg, Frits A.
- Freisinger, Peter
- Barić, Ivo
- Baumgartner, Matthias R.
- Burgard, Peter
- Burlina, Alberto B.
- Chapman, Kimberly A.
- i Saladelafont, Elisenda Cortès
- Karall, Daniela
- Mühlhausen, Chris
- Riches, Victoria
- Schiff, Manuel
- Sykut-Cegielska, Jolanta
- Walter, John H.
- Zeman, Jiri
- Chabrol, Brigitte
- Kölker, Stefan
2016
Volltextzugriff (PDF)
European journal of paediatric neurology, 2024-03, Vol.49, p.60-65
2024
Volltextzugriff (PDF)
Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.220-231
- Mütze, Ulrike
- Gleich, Florian
- Barić, Ivo
- Baumgartner, Mathias
- Burlina, Alberto
- Chapman, Kimberly A.
- Chien, Yin‐Hsiu
- Cortès‐Saladelafont, Elisenda
- De Laet, Corinne
- Dobbelaere, Dries
- Eysken, Francois
- Gautschi, Matthias
- Santer, Rene
- Häberle, Johannes
- Joaquín, Clara
- Karall, Daniela
- Lindner, Martin
- Lund, Allan M.
- Mühlhausen, Chris
- Murphy, Elaine
- Roland, Dominique
- Ruiz Gomez, Angeles
- Skouma, Anastasia
- Grünert, Sarah C.
- Wagenmakers, Margreet
- Garbade, Sven F.
- Kölker, Stefan
- Boy, Nikolas
2023
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