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Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-445, Article 445
2021
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Molecular genetics and metabolism, 2014-01, Vol.111 (1), p.16-25
- Stockler-Ipsiroglu, Sylvia
- van Karnebeek, Clara
- Longo, Nicola
- Korenke, G. Christoph
- Mercimek-Mahmutoglu, Saadet
- Marquart, Iris
- Barshop, Bruce
- Grolik, Christiane
- Schlune, Andrea
- Angle, Brad
- Araújo, Helena Caldeira
- Coskun, Turgay
- Diogo, Luisa
- Geraghty, Michael
- Haliloglu, Goknur
- Konstantopoulou, Vassiliki
- Leuzzi, Vincenzo
- Levtova, Alina
- MacKenzie, Jennifer
- Maranda, Bruno
- Mhanni, Aizeddin A.
- Mitchell, Grant
- Morris, Andrew
- Newlove, Theresa
- Renaud, Deborah
- Scaglia, Fernando
- Valayannopoulos, Vassili
- van Spronsen, Francjan J.
- Verbruggen, Krijn T.
- Yuskiv, Nataliya
- Nyhan, William
- Schulze, Andreas
2014
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International journal of molecular sciences, 2022-11, Vol.23 (22), p.13933
2022
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Archives of biochemistry and biophysics, 2020-07, Vol.688, p.108431-108431, Article 108431
2020
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International journal of molecular sciences, 2024-03, Vol.25 (6), p.3546
- Carvalho, Sofia
- Santos, Juliana Inês
- Moreira, Luciana
- Duarte, Ana Joana
- Gaspar, Paulo
- Rocha, Hugo
- Encarnação, Marisa
- Ribeiro, Diogo
- Barbosa Almeida, Matilde
- Gonçalves, Mariana
- David, Hugo
- Matos, Liliana
- Amaral, Olga
- Diogo, Luísa
- Ferreira, Sara
- Santos, Constança
- Martins, Esmeralda
- Prata, Maria João
- Pereira de Almeida, Luís
- Alves, Sandra
- Coutinho, Maria Francisca
2024
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Frontiers in genetics, 2023-04, Vol.13, p.1088040-1088040
2023
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The Journal of pediatrics, 2021-04, Vol.231, p.148-156
- Quelhas, Dulce
- Martins, Esmeralda
- Azevedo, Luísa
- Bandeira, Anabela
- Diogo, Luísa
- Garcia, Paula
- Sequeira, Sílvia
- Ferreira, Ana Cristina
- Teles, Elisa Leão
- Rodrigues, Esmeralda
- Fortuna, Ana Maria
- Mendonça, Carla
- Fernandes, Helena Cabral
- Medeira, Ana
- Gaspar, Ana
- Janeiro, Patrícia
- Oliveira, Anabela
- Laranjeira, Francisco
- Ribeiro, Isaura
- Souche, Erica
- Race, Valérie
- Keldermans, Liesbeth
- Matthijs, Gert
- Jaeken, Jaak
2021
Link zum Volltext
Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.553-564
- Vals, Mari‐Anne
- Ashikov, Angel
- Ilves, Pilvi
- Loorits, Dagmar
- Zeng, Qiang
- Barone, Rita
- Huijben, Karin
- Sykut‐Cegielska, Jolanta
- Diogo, Luísa
- Elias, Abdallah F.
- Greenwood, Robert S.
- Grunewald, Stephanie
- van Hasselt, Peter M.
- van de Kamp, Jiddeke M.
- Mancini, Grazia
- Okninska, Agnieszka
- Pajusalu, Sander
- Rudd, Pauline M.
- Rustad, Cecilie F.
- Salvarinova, Ramona
- de Vries, Bert B.A.
- Wolf, Nicole I.
- Ng, Bobby G.
- Freeze, Hudson H.
- Lefeber, Dirk J.
- Õunap, Katrin
2019
Link zum Volltext
Metabolic brain disease, 2018-06, Vol.33 (3), p.875-884
2018
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Journal of inherited metabolic disease, 2024-07, Vol.47 (4), p.731-745
2024
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Movement disorders clinical practice (Hoboken, N.J.), 2022-07, Vol.9 (5), p.707-709
2022
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Cardiology in the young, 2020-06, Vol.30 (6), p.840-851
2020
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Biochemical and biophysical research communications, 2007-09, Vol.361 (2), p.445-450
2007
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Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.743-747
2016
Link zum Volltext
Molecular genetics & genomic medicine, 2021-03, Vol.9 (3), p.e1559-n/a
- Ferreira, Filipa
- Azevedo, Luísa
- Neiva, Raquel
- Sousa, Carmen
- Fonseca, Helena
- Marcão, Ana
- Rocha, Hugo
- Carmona, Célia
- Ramos, Sónia
- Bandeira, Anabela
- Martins, Esmeralda
- Campos, Teresa
- Rodrigues, Esmeralda
- Garcia, Paula
- Diogo, Luísa
- Ferreira, Ana Cristina
- Sequeira, Silvia
- Silva, Francisco
- Rodrigues, Luísa
- Gaspar, Ana
- Janeiro, Patrícia
- Amorim, António
- Vilarinho, Laura
2021
Link zum Volltext
Acta medica portuguesa, 2019-12, Vol.32 (12), p.760-766
2019
Link zum Volltext
European journal of medical genetics, 2017-08, Vol.60 (8), p.426-432
2017
Link zum Volltext
Journal of human genetics, 2010-01, Vol.55 (1), p.55-58
2010
Link zum Volltext
Anales de Pediatría, 2018-02, Vol.88 (2), p.69-74
2018
Link zum Volltext
Cell, 2018-02, Vol.172 (5), p.952-965.e18
- Zhang, Shen-Ying
- Clark, Nathaniel E.
- Freije, Catherine A.
- Pauwels, Elodie
- Taggart, Allison J.
- Okada, Satoshi
- Mandel, Hanna
- Garcia, Paula
- Ciancanelli, Michael J.
- Biran, Anat
- Lafaille, Fabien G.
- Tsumura, Miyuki
- Cobat, Aurélie
- Luo, Jingchuan
- Volpi, Stefano
- Zimmer, Bastian
- Sakata, Sonoko
- Dinis, Alexandra
- Ohara, Osamu
- Garcia Reino, Eduardo J.
- Dobbs, Kerry
- Hasek, Mary
- Holloway, Stephen P.
- McCammon, Karen
- Hussong, Stacy A.
- DeRosa, Nicholas
- Van Skike, Candice E.
- Katolik, Adam
- Lorenzo, Lazaro
- Hyodo, Maki
- Faria, Emilia
- Halwani, Rabih
- Fukuhara, Rie
- Smith, Gregory A.
- Galvan, Veronica
- Damha, Masad J.
- Al-Muhsen, Saleh
- Itan, Yuval
- Boeke, Jef D.
- Notarangelo, Luigi D.
- Studer, Lorenz
- Kobayashi, Masao
- Diogo, Luisa
- Fairbrother, William G.
- Abel, Laurent
- Rosenberg, Brad R.
- Hart, P. John
- Etzioni, Amos
- Casanova, Jean-Laurent
2018
Link zum Volltext
Annals of hepatology, 2013-09, Vol.12 (5), p.791-796
2013
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Mitochondrion, 2016-11, Vol.31, p.84-88
2016
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Journal of autism and developmental disorders, 2006-11, Vol.36 (8), p.1137-1140
2006
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Brain (London, England : 1878), 2012-05, Vol.135 (Pt 5), p.1387-1394
2012
Link zum Volltext
Journal of inherited metabolic disease, 2013-09, Vol.36 (5), p.805-811
2013
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