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Orphanet journal of rare diseases, 2024-01, Vol.19 (1), p.15-15, Article 15
2024
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Radiology case reports, 2022-03, Vol.17 (3), p.462-466
2022
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South African Journal of Science, 2019-03, Vol.115 (3-4), p.99-101
2019
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Annals of the New York Academy of Sciences, 2009-01, Vol.1151 (1), p.77-84
2009
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The international journal of biochemistry & cell biology, 2021-03, Vol.132, p.105899-105899, Article 105899
2021
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Molecular genetics and metabolism, 2018-09, Vol.125 (1-2), p.38
2018
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Brain (London, England : 1878), 2023-12, Vol.146 (12), p.5098-5109
- Wilson, Lindsay A
- Macken, William L
- Perry, Luke D
- Record, Christopher J
- Schon, Katherine R
- Frezatti, Rodrigo S S
- Raga, Sharika
- Naidu, Kireshnee
- Köken, Özlem Yayıcı
- Polat, Ipek
- Kapapa, Musambo M
- Dominik, Natalia
- Efthymiou, Stephanie
- Morsy, Heba
- Nel, Melissa
- Fassad, Mahmoud R
- Gao, Fei
- Patel, Krutik
- Schoonen, Maryke
- Bisschoff, Michelle
- Vorster, Armand
- Jonvik, Hallgeir
- Human, Ronel
- Lubbe, Elsa
- Nonyane, Malebo
- Vengalil, Seena
- Nashi, Saraswati
- Srivastava, Kosha
- Lemmers, Richard J L F
- Reyaz, Alisha
- Mishra, Rinkle
- Töpf, Ana
- Trainor, Christina I
- Steyn, Elizabeth C
- Mahungu, Amokelani C
- van der Vliet, Patrick J
- Ceylan, Ahmet Cevdet
- Hiz, A Semra
- Çavdarlı, Büşranur
- Semerci Gündüz, C Nur
- Ceylan, Gülay Güleç
- Nagappa, Madhu
- Tallapaka, Karthik B
- Govindaraj, Periyasamy
- van der Maarel, Silvère M
- Narayanappa, Gayathri
- Nandeesh, Bevinahalli N
- Wa Somwe, Somwe
- Bearden, David R
- Kvalsund, Michelle P
- Ramdharry, Gita M
- Oktay, Yavuz
- Yiş, Uluç
- Topaloğlu, Haluk
- Sarkozy, Anna
- Bugiardini, Enrico
- Henning, Franclo
- Wilmshurst, Jo M
- Heckmann, Jeannine M
- McFarland, Robert
- Taylor, Robert W
- Smuts, Izelle
- van der Westhuizen, Francois H
- Sobreira, Claudia Ferreira da Rosa
- Tomaselli, Pedro J
- Marques, Jr, Wilson
- Bhatia, Rohit
- Dalal, Ashwin
- Srivastava, M V Padma
- Yareeda, Sireesha
- Nalini, Atchayaram
- Vishnu, Venugopalan Y
- Thangaraj, Kumarasamy
- Straub, Volker
- Horvath, Rita
- Chinnery, Patrick F
- Pitceathly, Robert D S
- Muntoni, Francesco
- Houlden, Henry
- Vandrovcova, Jana
- Reilly, Mary M
- Hanna, Michael G
2023
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SAMJ: South African Medical Journal, 2022-08, Vol.112 (8), p.506-508
2022
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Nature genetics, 2024-03, Vol.56 (3), p.395-4
- Töpf, Ana
- Cox, Dan
- Zaharieva, Irina T
- Di Leo, Valeria
- Sarparanta, Jaakko
- Jonson, Per Harald
- Sealy, Ian M
- Smolnikov, Andrei
- White, Richard J
- Vihola, Anna
- Savarese, Marco
- Merteroglu, Munise
- Wali, Neha
- Laricchia, Kristen M
- Venturini, Cristina
- Vroling, Bas
- Stenton, Sarah L
- Cummings, Beryl B
- Harris, Elizabeth
- Marini-Bettolo, Chiara
- Diaz-Manera, Jordi
- Henderson, Matt
- Barresi, Rita
- Duff, Jennifer
- England, Eleina M
- Patrick, Jane
- Al-Husayni, Sundos
- Biancalana, Valerie
- Beggs, Alan H
- Bodi, Istvan
- Bommireddipalli, Shobhana
- Bönnemann, Carsten G
- Cairns, Anita
- Chiew, Mei-Ting
- Claeys, Kristl G
- Cooper, Sandra T
- Davis, Mark R
- Donkervoort, Sandra
- Erasmus, Corrie E
- Fassad, Mahmoud R
- Genetti, Casie A
- Grosmann, Carla
- Jungbluth, Heinz
- Kamsteeg, Erik-Jan
- Lornage, Xavière
- Löscher, Wolfgang N
- Malfatti, Edoardo
- Manzur, Adnan
- Martí, Pilar
- Mongini, Tiziana E
- Muelas, Nuria
- Nishikawa, Atsuko
- O'Donnell-Luria, Anne
- Ogonuki, Narumi
- O'Grady, Gina L
- O'Heir, Emily
- Paquay, Stéphanie
- Phadke, Rahul
- Pletcher, Beth A
- Romero, Norma B
- Schouten, Meyke
- Shah, Snehal
- Smuts, Izelle
- Sznajer, Yves
- Tasca, Giorgio
- Taylor, Robert W
- Tuite, Allysa
- Van den Bergh, Peter
- VanNoy, Grace
- Voermans, Nicol C
- Wanschitz, Julia V
- Wraige, Elizabeth
- Yoshimura, Kimihiko
- Oates, Emily C
- Nakagawa, Osamu
- Nishino, Ichizo
- Laporte, Jocelyn
- Vilchez, Juan J
- MacArthur, Daniel G
- Sarkozy, Anna
- Cordell, Heather J
- Udd, Bjarne
- Busch-Nentwich, Elisabeth M
- Muntoni, Francesco
- Straub, Volker
2024
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Journal of the neurological sciences, 2018-01, Vol.384, p.121-125
2018
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European journal of neurology, 2023-02, Vol.30 (2), p.399-412
- Pizzamiglio, Chiara
- Pitceathly, Robert D. S.
- Lunn, Michael P.
- Brady, Stefen
- De Marchi, Fabiola
- Galan, Lucia
- Heckmann, Jeannine M.
- Horga, Alejandro
- Molnar, Maria J.
- Oliveira, Acary S. B.
- Pinto, Wladimir B. V. R.
- Primiano, Guido
- Santos, Ernestina
- Schoser, Benedikt
- Servidei, Serenella
- Sgobbi Souza, Paulo V.
- Venugopalan, Vishnu
- Hanna, Michael G.
- Dimachkie, Mazen M.
- Machado, Pedro M.
- Lim, Albert
- Elsaddig, Amar
- Juanatey, Ana
- Romeiro, Ana
- Themistocleous, Andreas
- Kiss‐Csenki, Annamaria
- Guerrero Sola, Antonio
- Patil, Anuja
- Duggal, Ashish
- Gabriel, Carolyn
- Marshall, Charles
- Record, Christopher
- Allen, Claire
- Bearden, David
- Rathna Sabapathi, DeviPriya
- R, Dileep
- Vecchio, Domizia
- Newman, Edward
- Eshun, Edwin
- Foo, Eng C.
- Bugiardini, Enrico
- Burke, Georgina
- Ramdharry, Gita
- Gorman, Gràinne S.
- Kumar, Guru
- Sivasathiaseelan, Harri
- Braga Farias, Igor
- Smuts, Izelle
- Holt, James
- Groothuis, Jan T.
- Pritchard, Jane
- Wall, Jasmine
- Gamez, Josep
- Shakthi, K. J. S.
- Wannop, Kate
- Brennan, Kathryn
- Saavedra, Lillian
- Clayton, Lisa
- Househam, Liz
- Skorupinska, Mariola
- Laura, Matilde
- Ciocca, Matteo
- Zosmer, Maya
- Dhamne, Megha
- Mancuso, Michelangelo
- Janssen, Mirian
- Musumeci, Olimpia
- Price, Olivia
- Chinnery, Patrick F.
- Ambrose, Philip
- Mehta, Puja R.
- Thomas, Rhys H.
- Horvath, Rita
- McFarland, Robert
- Nortley, Ross
- Paterson, Ross W.
- Geraldes, Ruth
- Keh, Ryan
- Neshuku, Saara
- Sasidharan, Sandhya
- Menon R, Sarath
- Raga, Sharika
- Rinaldi, Simon
- Yareeda, Sireesha
- Desai, Soaham
- Ramaratnam, Sridharan
- Keddie, Stephen
- Watson‐Fargie, Taylor
- Evangelista, Teresinha
- Sansone, Valeria
- Nesbitt, Victoria
- Macken, William L.
- Oktay, Yavuz
2023
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Molecular genetics and metabolism, 2018-09, Vol.125 (1-2), p.38-43
2018
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Metabolomics, 2015-02, Vol.11 (1), p.111-121
2015
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The Journal of molecular diagnostics : JMD, 2019-05, Vol.21 (3), p.503-513
2019
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Annals of the New York Academy of Sciences, 2009-01, Vol.1151 (1), p.77-84
2009
Link zum Volltext
Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.913-921
- Wortmann, Saskia B.
- Kluijtmans, Leo A. J.
- Rodenburg, Richard J.
- Sass, Jörn Oliver
- Nouws, Jessica
- van Kaauwen, Edwin P.
- Kleefstra, Tjitske
- Tranebjaerg, Lisbeth
- de Vries, Maaike C.
- Isohanni, Pirjo
- Walter, Katharina
- Alkuraya, Fowzan S.
- Smuts, Izelle
- Reinecke, Carolus J.
- van der Westhuizen, Francois H.
- Thorburn, David
- Smeitink, Jan A. M.
- Morava, Eva
- Wevers, Ron A.
2013
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Metabolomics, 2012-04, Vol.8 (2), p.264-283
2012
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Epilepsia (Copenhagen), 2009-11, Vol.50 (11), p.2377-2389
2009
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Human Mutation, 2015-05, Vol.36 (5), p.569-571
2015
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South African medical journal, 2016-03, Vol.106 (3), p.234-236
2016
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European journal of human genetics : EJHG, 2012-06, Vol.20 (6), p.650-656
2012
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SAMJ: South African Medical Journal, 2016-03, Vol.106 (3), p.234-236
2016
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Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.705-712
- Koene, Saskia
- Hendriks, Jan C. M.
- Dirks, Ilse
- de Boer, Lonneke
- de Vries, Maaike C.
- Janssen, Mirian C. H.
- Smuts, Izelle
- Fung, Cheuk-Wing
- Wong, Virginia C. N.
- de Coo, I. René F. M.
- Vill, Katharina
- Stendel, Claudia
- Klopstock, Thomas
- Falk, Marni J.
- McCormick, Elizabeth M.
- McFarland, Robert
- de Groot, Imelda J. M.
- Smeitink, Jan A. M.
2016
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Metabolomics, 2013-04, Vol.9 (2), p.379-391
2013
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Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.95-104
2010
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