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Journal of inherited metabolic disease, 2020-09, Vol.43 (5), p.952-959
2020
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American journal of medical genetics. Part A, 2022-10, Vol.188 (10), p.3139-3141
2022
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PloS one, 2022-09, Vol.17 (9), p.e0273819-e0273819
2022
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PloS one, 2022-09, Vol.17 (9)
2022
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Molecular genetics and metabolism, 2012-03, Vol.105 (3), p.368-381
2012
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Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.88-98
2021
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Frontiers in pediatrics, 2024-03, Vol.12, p.1285414
2024
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Human mutation, 2018-07, Vol.39 (7), p.1014-1023
2018
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International journal of molecular sciences, 2020-11, Vol.21 (23), p.9121
2020
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Brain (London, England : 1878), 2021-03, Vol.144 (2), p.411-419
- Riedhammer, Korbinian M
- Stockler, Sylvia
- Ploski, Rafal
- Wenzel, Maren
- Adis-Dutschmann, Burkhard
- Ahting, Uwe
- Alhaddad, Bader
- Blaschek, Astrid
- Haack, Tobias B
- Kopajtich, Robert
- Lee, Jessica
- Murcia Pienkowski, Victor
- Pollak, Agnieszka
- Szymanska, Krystyna
- Tarailo-Graovac, Maja
- van der Lee, Robin
- van Karnebeek, Clara D
- Meitinger, Thomas
- Krägeloh-Mann, Ingeborg
- Vill, Katharina
2021
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Genetics in medicine, 2019-07, Vol.21 (7), p.1621-1628
- Matthews, Allison M.
- Blydt-Hansen, Ingrid
- Al-Jabri, Basmah
- Andersen, John
- Tarailo-Graovac, Maja
- Price, Magda
- Selby, Katherine
- Demos, Michelle
- Connolly, Mary
- Drögemoller, Britt
- Shyr, Casper
- Mwenifumbo, Jill
- Elliott, Alison M.
- Lee, Jessica
- Ghani, Aisha
- Stöckler, Sylvia
- Salvarinova, Ramona
- Vallance, Hilary
- Sinclair, Graham
- Ross, Colin J.
- Wasserman, Wyeth W.
- McKinnon, Margaret L.
- Horvath, Gabriella A.
- Goez, Helly
- van Karnebeek, Clara D.
2019
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JIMD reports, 2020-01, Vol.51 (1), p.30-44
2020
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JIMD reports, 2021-09, Vol.61 (1), p.67-75
2021
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Molecular genetics and metabolism reports, 2023-03, Vol.34, p.100955-100955, Article 100955
2023
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Frontiers in psychiatry, 2022-07, Vol.13, p.851490-851490
2022
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Neuropediatrics, 2016-08, Vol.47 (4), p.263
2016
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Stem cell research, 2023-09, Vol.71, p.103174-103174, Article 103174
2023
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Health expectations : an international journal of public participation in health care and health policy, 2024-02, Vol.27 (1), p.n/a
- Chow, Andrea J.
- Saad, Ammar
- Al‐Baldawi, Zobaida
- Iverson, Ryan
- Skidmore, Becky
- Jordan, Isabel
- Pallone, Nicole
- Smith, Maureen
- Chakraborty, Pranesh
- Brehaut, Jamie
- Cohen, Eyal
- Dyack, Sarah
- Gillis, Jane
- Goobie, Sharan
- Greenberg, Cheryl R.
- Hayeems, Robin
- Hutton, Brian
- Inbar‐Feigenberg, Michal
- Jain‐Ghai, Shailly
- Khangura, Sara
- MacKenzie, Jennifer J.
- Mitchell, John J.
- Moazin, Zeinab
- Nicholls, Stuart G.
- Pender, Amy
- Prasad, Chitra
- Schulze, Andreas
- Siriwardena, Komudi
- Sparkes, Rebecca N.
- Speechley, Kathy N.
- Stockler, Sylvia
- Taljaard, Monica
- Teitelbaum, Mari
- Trakadis, Yannis
- Van Karnebeek, Clara
- Walia, Jagdeep S.
- Wilson, Kumanan
- Potter, Beth K.
2024
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Orphanet journal of rare diseases, 2019-01, Vol.14 (1), p.7-7, Article 7
2019
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Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.178-192
- Coughlin, Curtis R.
- Tseng, Laura A.
- Abdenur, Jose E.
- Ashmore, Catherine
- Boemer, François
- Bok, Levinus A.
- Boyer, Monica
- Buhas, Daniela
- Clayton, Peter T.
- Das, Anibh
- Dekker, Hanka
- Evangeliou, Athanasios
- Feillet, François
- Footitt, Emma J.
- Gospe, Sidney M.
- Hartmann, Hans
- Kara, Majdi
- Kristensen, Erle
- Lee, Joy
- Lilje, Rina
- Longo, Nicola
- Lunsing, Roelineke J.
- Mills, Philippa
- Papadopoulou, Maria T.
- Pearl, Phillip L.
- Piazzon, Flavia
- Plecko, Barbara
- Saini, Arushi G.
- Santra, Saikat
- Sjarif, Damayanti R.
- Stockler‐Ipsiroglu, Sylvia
- Striano, Pasquale
- Van Hove, Johan L.K.
- Verhoeven‐Duif, Nanda M.
- Wijburg, Frits A.
- Zuberi, Sameer M.
- Karnebeek, Clara D.M.
2021
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Frontiers in cellular neuroscience, 2024-01, Vol.17, p.1344090-1344090
2024
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Trials, 2021-11, Vol.22 (1), p.816-816, Article 816
- Howie, Alison H
- Tingley, Kylie
- Inbar-Feigenberg, Michal
- Mitchell, John J
- Butcher, Nancy J
- Offringa, Martin
- Smith, Maureen
- Angel, Kim
- Gentle, Jenifer
- Wyatt, Alexandra
- Campeau, Philippe M
- Chan, Alicia
- Chakraborty, Pranesh
- El Turk, Farah
- Mamak, Eva
- Mhanni, Aizeddin
- Skidmore, Becky
- Sparkes, Rebecca
- Stockler, Sylvia
- Potter, Beth K
2021
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Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100880-100880, Article 100880
2022
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Molecular genetics and metabolism reports, 2023-06, Vol.35, p.100961, Article 100961
2023
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Molecular genetics & genomic medicine, 2019-10, Vol.7 (10), p.e00961-n/a
2019
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