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Journal of medical genetics, 2022-04, Vol.59 (4), p.399
- Nuovo, Sara
- Micalizzi, Alessia
- Romaniello, Romina
- Arrigoni, Filippo
- Ginevrino, Monia
- Casella, Antonella
- Serpieri, Valentina
- D'Arrigo, Stefano
- Briguglio, Marilena
- Salerno, Grazia Gabriella
- Rossato, Sara
- Sartori, Stefano
- Leuzzi, Vincenzo
- Battini, Roberta
- Ben-Zeev, Bruria
- Graziano, Claudio
- Mirabelli Badenier, Marisol
- Brankovic, Vesna
- Nardocci, Nardo
- Spiegel, Ronen
- Petković Ramadža, Danijela
- Vento, Giovanni
- Marti, Itxaso
- Simonati, Alessandro
- Dipresa, Savina
- Freri, Elena
- Mazza, Tommaso
- Bassi, Maria Teresa
- Bosco, Luca
- Travaglini, Lorena
- Zanni, Ginevra
- Bertini, Enrico Silvio
- Vanacore, Nicola
- Borgatti, Renato
- Valente, Enza Maria
2022
Link zum Volltext
Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1059-1074
- 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.
- Garcia Cazorla, Angeles
2015
Link zum Volltext
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
Link zum Volltext
Journal of inherited metabolic disease, 2022-07, Vol.45 (4), p.719-733
- Mütze, Ulrike
- Gleich, Florian
- Garbade, Sven F.
- Plisson, Céline
- Aldámiz‐Echevarría, Luis
- Arrieta, Francisco
- Ballhausen, Diana
- Zielonka, Matthias
- Petković Ramadža, Danijela
- Baumgartner, Matthias R.
- Cano, Aline
- García Jiménez, María Concepción
- Dionisi‐Vici, Carlo
- Ješina, Pavel
- Blom, Henk J.
- Couce, Maria Luz
- Meavilla Olivas, Silvia
- Mention, Karine
- Mochel, Fanny
- Morris, Andrew A. M.
- Mundy, Helen
- Redonnet‐Vernhet, Isabelle
- Santra, Saikat
- Schiff, Manuel
- Servais, Aude
- Vitoria, Isidro
- Huemer, Martina
- Kožich, Viktor
- Kölker, Stefan
2022
Link zum Volltext
American journal of human genetics, 2016-10, Vol.99 (4), p.894-902
- Kremer, Laura S.
- Danhauser, Katharina
- Herebian, Diran
- Petkovic Ramadža, Danijela
- Piekutowska-Abramczuk, Dorota
- Seibt, Annette
- Müller-Felber, Wolfgang
- Haack, Tobias B.
- Płoski, Rafał
- Lohmeier, Klaus
- Schneider, Dominik
- Klee, Dirk
- Rokicki, Dariusz
- Mayatepek, Ertan
- Strom, Tim M.
- Meitinger, Thomas
- Klopstock, Thomas
- Pronicka, Ewa
- Mayr, Johannes A.
- Baric, Ivo
- Distelmaier, Felix
- Prokisch, Holger
2016
Link zum Volltext
Liječnički vjesnik, 2023-04, Vol.145 (Supp 2), p.75-75
2023
Link zum Volltext
Human genetics, 2023-07, Vol.142 (7), p.909-925
- D’Onofrio, Gianluca
- Accogli, Andrea
- Severino, Mariasavina
- Caliskan, Haluk
- Kokotović, Tomislav
- Blazekovic, Antonela
- Jercic, Kristina Gotovac
- Markovic, Silvana
- Zigman, Tamara
- Goran, Krnjak
- Barišić, Nina
- Duranovic, Vlasta
- Ban, Ana
- Borovecki, Fran
- Ramadža, Danijela Petković
- Barić, Ivo
- Fazeli, Walid
- Herkenrath, Peter
- Marini, Carla
- Vittorini, Roberta
- Gowda, Vykuntaraju
- Bouman, Arjan
- Rocca, Clarissa
- Alkhawaja, Issam Azmi
- Murtaza, Bibi Nazia
- Rehman, Malik Mujaddad Ur
- Al Alam, Chadi
- Nader, Gisele
- Mancardi, Maria Margherita
- Giacomini, Thea
- Srivastava, Siddharth
- Alvi, Javeria Raza
- Tomoum, Hoda
- Matricardi, Sara
- Iacomino, Michele
- Riva, Antonella
- Scala, Marcello
- Madia, Francesca
- Pistorio, Angela
- Salpietro, Vincenzo
- Minetti, Carlo
- Rivière, Jean-Baptiste
- Srour, Myriam
- Efthymiou, Stephanie
- Maroofian, Reza
- Houlden, Henry
- Vernes, Sonja Catherine
- Zara, Federico
- Striano, Pasquale
- Nagy, Vanja
2023
Link zum Volltext
Frontiers in pediatrics, 2022-04, Vol.10, p.847445
2022
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Molecular genetics and metabolism, 2009-07, Vol.97 (3), p.165-171
2009
Link zum Volltext
Liječnički vjesnik, 2019-05, Vol.141 (3-4), p.68
2019
Link zum Volltext
Journal of pediatric endocrinology & metabolism : JPEM, 2016-09, Vol.29 (9), p.1083
2016
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Journal of pediatric endocrinology & metabolism : JPEM, 2018-01, Vol.31 (1), p.71
2018
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Frontiers in neuroscience, 2021-05, Vol.15, p.673600-673600
2021
Link zum Volltext
Liječnički vjesnik, 2024-04, Vol.146 (Supp 1)
2024
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
Nature genetics, 2012-05, Vol.44 (5), p.581-585
- ROSCIOLI, Tony
- KAMSTEEG, Erik-Jan
- SCHRADERS, Margit
- ALTUNOGLU, Umut
- BUCKLEY, Michael F
- BRUNNER, Han G
- GRISART, Bernard
- HUIQING ZHOU
- VELTMAN, Joris A
- GILISSEN, Christian
- MANCINI, Grazia M. S
- DELREE, Paul
- BUYSSE, Karen
- WILLEMSEN, Michel A
- PETKOVIC RAMADZA, Danijela
- CHITAYAT, David
- BENNETT, Christopher
- SHERIDAN, Eamonn
- PEETERS, Els A. J
- TAN-SINDHUNATA, Gita M. B
- DE DIE-SMULDERS, Christine E
- DEVRIENDT, Koenraad
- KAYSERILI, Hülya
- MAYSTADT, Isabelle
- ABD EL-FATTAH EI-HASHASH, Osama
- STEMPLE, Derek L
- LEFEBER, Dirk J
- LIN, Yung-Yao
- BOKHOVEN, Hans Van
- REEUWIJK, Jeroen Van
- DEN ELZEN, Christa Van
- BEUSEKOM, Ellen Van
- RIEMERSMA, Moniek
- PFUNDT, Rolph
- VISSERS, Lisenka Elm
2012
Link zum Volltext
Journal of Inherited Metabolic Disease, 2017-01, Vol.40 (1), p.5-20
2017
Link zum Volltext
European journal of human genetics : EJHG, 2014-06, Vol.22 (6), p.762-767
2014
Link zum Volltext
Human genome variation, 2018-01, Vol.5 (1), p.18005-18005, Article 18005
2018
Link zum Volltext
Liječnički vjesnik, 2023-01, Vol.145 (Supp 5), p.21-21
2023
Link zum Volltext
Biochemia Medica, 2018-10, Vol.28 (3), p.030801-030801
2018
Link zum Volltext
Liječnički vjesnik, 2023-03, Vol.145 (1-2), p.1-11
2023
Link zum Volltext
Clinical genetics, 2023-11, Vol.104 (5), p.598-603
2023
Link zum Volltext
Journal of inherited metabolic disease, 2022-11, Vol.45 (6), p.1048-1058
2022
Link zum Volltext
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