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Indian journal of pediatrics, 2024-02, Vol.91 (2), p.184-187
2024
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Orphanet journal of rare diseases, 2018-10, Vol.13 (1), p.174-174, Article 174
2018
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European journal of human genetics : EJHG, 2022-09, Vol.30 (9), p.1029-1035
- Almeida, Ligia S
- Pereira, Catarina
- Aanicai, Ruxandra
- Schröder, Sabine
- Bochinski, Tomasz
- Kaune, Anett
- Urzi, Alice
- Spohr, Tania C L S
- Viceconte, Nikenza
- Oppermann, Sebastian
- Alasel, Mohammed
- Ebadat, Saeedeh
- Iftikhar, Sana
- Jasinge, Eresha
- Elsayed, Solaf M
- Tomoum, Hoda
- Marzouk, Iman
- Jalan, Anil B
- Cerkauskaite, Agne
- Cerkauskiene, Rimante
- Tkemaladze, Tinatin
- Nadeem, Anjum Muhammad
- El Din Mahmoud, Iman Gamal
- Mossad, Fawzia Amer
- Kamel, Mona
- Selim, Laila Abdel
- Cheema, Huma Arshad
- Paknia, Omid
- Cozma, Claudia
- Juaristi-Manrique, Carlos
- Guatibonza-Moreno, Pilar
- Böttcher, Tobias
- Vogel, Florian
- Pinto-Basto, Jorge
- Bertoli-Avella, Aida
- Bauer, Peter
2022
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Clinical rheumatology, 2020-09, Vol.39 (9), p.2743-2749
2020
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JIMD Reports, Volume 45, 2019, Vol.45, p.29-36
2019
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Molecular cytogenetics, 2014, Vol.7 (Suppl 1 Proceedings of the International Conference on Human), p.I42-I42
2014
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Journal of clinical neonatology, 2017-07, Vol.6 (3), p.200
2017
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Cancer cell, 2010-10, Vol.18 (4), p.329-340
2010
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Cancer cell, 2011-04, Vol.19 (4), p.470-483
2011
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Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1041-1057
- Kölker, Stefan
- Cazorla, Angeles Garcia
- Valayannopoulos, Vassili
- Lund, Allan M.
- Burlina, Alberto B.
- Sykut-Cegielska, Jolanta
- Wijburg, Frits A.
- Teles, Elisa Leão
- Zeman, Jiri
- Dionisi-Vici, Carlo
- Barić, Ivo
- Karall, Daniela
- Augoustides-Savvopoulou, Persephone
- Aksglaede, Lise
- Arnoux, Jean-Baptiste
- Avram, Paula
- Baumgartner, Matthias R.
- Blasco-Alonso, Javier
- Chabrol, Brigitte
- Chakrapani, Anupam
- Chapman, Kimberly
- i Saladelafont, Elisenda Cortès
- Couce, Maria L.
- de Meirleir, Linda
- Dobbelaere, Dries
- Dvorakova, Veronika
- Furlan, Francesca
- Gleich, Florian
- Gradowska, Wanda
- Grünewald, Stephanie
- Jalan, Anil
- Häberle, Johannes
- Haege, Gisela
- Lachmann, Robin
- Laemmle, Alexander
- Langereis, Eveline
- de Lonlay, Pascale
- Martinelli, Diego
- Matsumoto, Shirou
- Mühlhausen, Chris
- de Baulny, Hélène Ogier
- Ortez, Carlos
- Peña-Quintana, Luis
- Ramadža, Danijela Petković
- Rodrigues, Esmeralda
- Scholl-Bürgi, Sabine
- Sokal, Etienne
- Staufner, Christian
- Summar, Marshall L.
- Thompson, Nicholas
- Vara, Roshni
- Pinera, Inmaculada Vives
- Walter, John H.
- Williams, Monique
- Burgard, Peter
2015
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Human mutation, 2020-05, Vol.41 (5), p.946-960
- Zielonka, Matthias
- Garbade, Sven F.
- Gleich, Florian
- Okun, Jürgen G.
- Nagamani, Sandesh C. S.
- Gropman, Andrea L.
- Hoffmann, Georg F.
- Kölker, Stefan
- Posset, Roland
- Ah Mew, Nicholas
- Burrage, Lindsay C.
- Schulze, Andreas
- Berry, Susan A.
- Baumgartner, Matthias R.
- Diaz, George A.
- Merritt, J. Lawrence
- Bedoyan, Jirair K.
- Wong, Derek
- Harding, Cary O.
- Yudkoff, Marc
- Garcia‐Cazorla, Angeles
- Cortès‐Saladelafont, Elisenda
- Lund, Allan M.
- Dionisi‐Vici, Carlo
- Burlina, Alberto B.
- Morris, Andrew A.
- Freisinger, Peter
- Walter, Magdalena E.
- Jalan, Anil
- Schiff, Manuel
- Dobbelaere, Dries
- Bosch, Annet M.
- Ioannou, Harikleia
- Barić, Ivo
2020
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Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.93-106
- Posset, Roland
- Garbade, Sven F.
- Boy, Nikolas
- Burlina, Alberto B.
- Dionisi‐Vici, Carlo
- Dobbelaere, Dries
- Garcia‐Cazorla, Angeles
- de Lonlay, Pascale
- Teles, Elisa Leão
- Vara, Roshni
- Mew, Nicholas Ah
- Batshaw, Mark L.
- Baumgartner, Matthias R.
- McCandless, Shawn E.
- Seminara, Jennifer
- Summar, Marshall
- Hoffmann, Georg F.
- Kölker, Stefan
- Burgard, Peter
- Berry, Susan A.
- Burrage, Lindsay
- Coughlin, Curtis
- Diaz, George A.
- Gallagher, Renata C.
- Gropman, Andrea
- Harding, Cary O.
- Lee, Brendan
- Le Mons, Cynthia
- Lawrence Merritt, J.
- Nagamani, Sandesh C. S.
- Schulze, Andreas
- Stricker, Tamar
- Tuchman, Mendel
- Waisbren, Susan
- WeisfeldAdams, James
- Wong, Derek
- Yudkoff, Marc
- Arnoux, JeanBaptiste
- Bari, Ivo
- Bosch, Annet M.
- Chabrol, Brigitte
- Chakrapani, Anupam
- CortèsSaladefont, Elisenda
- Couce, Maria L.
- Eyskens, Francois
- Laet, Corine
- Meirleir, Linda
- Freisinger, Peter
- Gleich, Florian
- Grünewald, Stephanie
- Häberle, Johannes
- Hwu, WuhLiang
- Jalan, Anil
- Karall, Daniela
- Lindner, Martin
- Lund, Allan M.
- Martinelli, Diego
- Murphy, Elaine
- Mühlhausen, Chris
- Olivieri, Giorgia
- Ottolenghi, Chris
- Rodrigues, Esmeralda
- Rubert, Laura
- Sarajlija, Adrijan
- Schiff, Manuel
- Sokal, Etienne
- SykutCegielska, Jolanta
- Walter, John H.
- Williams, Monique
- Zeman, Jiri
2019
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Genes & development, 2007-11, Vol.21 (22), p.2908-2922
2007
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Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.661-672
- Posset, Roland
- Garcia-Cazorla, Angeles
- Valayannopoulos, Vassili
- Teles, Elisa Leão
- Dionisi-Vici, Carlo
- Brassier, Anaïs
- Burlina, Alberto B.
- Burgard, Peter
- Cortès-Saladelafont, Elisenda
- Dobbelaere, Dries
- Couce, Maria L.
- Sykut-Cegielska, Jolanta
- Häberle, Johannes
- Lund, Allan M.
- Chakrapani, Anupam
- Schiff, Manuel
- Walter, John H.
- Zeman, Jiri
- Vara, Roshni
- Kölker, Stefan
2016
Link zum Volltext
Journal of inherited metabolic disease, 2018-07, p.1-13
- Posset, Roland
- Garbade, Sven F
- Boy, Nikolas
- Burlina, Alberto B
- Dionisi-Vici, Carlo
- Dobbelaere, Dries
- Garcia-Cazorla, Angeles
- de Lonlay, Pascale
- Teles, Elisa Leão
- Vara, Roshni
- Ah Mew, Nicholas
- Batshaw, Mark L
- Baumgartner, Matthias R
- McCandless, Shawn
- Seminara, Jennifer
- Summar, Marshall
- Hoffmann, Georg F
- Kölker, Stefan
- Burgard, Peter
2018
Link zum Volltext
Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.743-744
- Posset, Roland
- Garcia-Cazorla, Angeles
- Valayannopoulos, Vassili
- Leão Teles, Elisa
- Dionisi-Vici, Carlo
- Brassier, Anaïs
- Burlina, Alberto B.
- Burgard, Peter
- Cortès-Saladelafont, Elisenda
- Dobbelaere, Dries
- Couce, Maria L.
- Sykut-Cegielska, Jolanta
- Häberle, Johannes
- Lund, Allan M.
- Chakrapani, Anupam
- Schiff, Manuel
- Walter, John H.
- Zeman, Jiri
- Vara, Roshni
- Kölker, Stefan
2018
Link zum Volltext
Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1155-1156
- Kölker, Stefan
- Cazorla, Angeles Garcia
- Valayannopoulos, Vassili
- Lund, Allan M.
- Burlina, Alberto B.
- Sykut-Cegielska, Jolanta
- Wijburg, Frits A.
- Teles, Elisa Leão
- Zeman, Jiri
- Dionisi-Vici, Carlo
- Barić, Ivo
- Karall, Daniela
- Augoustides-Savvopoulou, Persephone
- Aksglaede, Lise
- Arnoux, Jean-Baptiste
- Avram, Paula
- Baumgartner, Matthias R.
- Blasco-Alonso, Javier
- Chabrol, Brigitte
- Chakrapani, Anupam
- Chapman, Kimberly
- i Saladelafont, Elisenda Cortès
- Couce, Maria L.
- de Meirleir, Linda
- Dobbelaere, Dries
- Dvorakova, Veronika
- Furlan, Francesca
- Gleich, Florian
- Gradowska, Wanda
- Grünewald, Stephanie
- Jalan, Anil
- Häberle, Johannes
- Haege, Gisela
- Lachmann, Robin
- Laemmle, Alexander
- Langereis, Eveline
- de Lonlay, Pascale
- Martinelli, Diego
- Matsumoto, Shirou
- Mühlhausen, Chris
- de Baulny, Hélène Ogier
- Ortez, Carlos
- Peña-Quintana, Luis
- Ramadža, Danijela Petković
- Rodrigues, Esmeralda
- Scholl-Bürgi, Sabine
- Sokal, Etienne
- Staufner, Christian
- Summar, Marshall L.
- Thompson, Nicholas
- Vara, Roshni
- Pinera, Inmaculada Vives
- Walter, John H.
- Williams, Monique
- Burgard, Peter
2015
Link zum Volltext
Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1157-1158
- Kölker, Stefan
- Valayannopoulos, Vassili
- Burlina, Alberto B.
- Sykut-Cegielska, Jolanta
- Wijburg, Frits A.
- Teles, Elisa Leão
- Zeman, Jiri
- Dionisi-Vici, Carlo
- Barić, Ivo
- Karall, Daniela
- Arnoux, Jean-Baptiste
- Avram, Paula
- Baumgartner, Matthias R.
- Blasco-Alonso, Javier
- Boy, S. P. Nikolas
- Rasmussen, Marlene Bøgehus
- Burgard, Peter
- Chabrol, Brigitte
- Chakrapani, Anupam
- Chapman, Kimberly
- Cortès i Saladelafont, Elisenda
- Couce, Maria L.
- de Meirleir, Linda
- Dobbelaere, Dries
- Furlan, Francesca
- Gleich, Florian
- González, Maria Julieta
- Gradowska, Wanda
- Grünewald, Stephanie
- Honzik, Tomas
- Hörster, Friederike
- Ioannou, Hariklea
- Jalan, Anil
- Häberle, Johannes
- Haege, Gisela
- Langereis, Eveline
- de Lonlay, Pascale
- Martinelli, Diego
- Matsumoto, Shirou
- Mühlhausen, Chris
- Murphy, Elaine
- de Baulny, Hélène Ogier
- Ortez, Carlos
- Pedrón, Consuelo C.
- Pintos-Morell, Guillem
- Pena-Quintana, Luis
- Ramadža, Danijela Petković
- Rodrigues, Esmeralda
- Scholl-Bürgi, Sabine
- Sokal, Etienne
- Summar, Marshall L.
- Thompson, Nicholas
- Vara, Roshni
- Pinera, Inmaculada Vives
- Walter, John H.
- Williams, Monique
- Lund, Allan M.
- Cazorla, Angeles Garcia
2015
Link zum Volltext
Molecular genetics and metabolism, 2010-05, Vol.100 (1), p.42-45
2010
Link zum Volltext
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