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Journal of inherited metabolic disease, 2024-01, Vol.47 (1), p.9-21
2024
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Journal of inherited metabolic disease, 2024-01, Vol.47 (1), p.135-144
2024
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Journal of inherited metabolic disease, 2019-11, Vol.42 (6), p.1097-1104
2019
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American journal of medical genetics. Part A, 2022-11, Vol.188 (11), p.3374-3375
2022
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The EMBO journal, 2019-06, Vol.38 (12), p.n/a
2019
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Journal of paediatrics and child health, 2021-03, Vol.57 (3), p.450-451
2021
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American journal of medical genetics. Part A, 2024-05, Vol.194 (5), p.e63517-n/a
2024
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Human mutation, 2022-11, Vol.43 (11), p.1609-1628
- Levy, Michael A.
- Relator, Raissa
- McConkey, Haley
- Pranckeviciene, Erinija
- Kerkhof, Jennifer
- Barat‐Houari, Mouna
- Bargiacchi, Sara
- Biamino, Elisa
- Palomares Bralo, María
- Cappuccio, Gerarda
- Ciolfi, Andrea
- Clarke, Angus
- DuPont, Barbara R.
- Elting, Mariet W.
- Faivre, Laurence
- Fee, Timothy
- Ferilli, Marco
- Fletcher, Robin S.
- Cherick, Florian
- Foroutan, Aidin
- Friez, Michael J.
- Gervasini, Cristina
- Haghshenas, Sadegheh
- Hilton, Benjamin A.
- Jenkins, Zandra
- Kaur, Simranpreet
- Lewis, Suzanne
- Louie, Raymond J.
- Maitz, Silvia
- Milani, Donatella
- Morgan, Angela T.
- Oegema, Renske
- Østergaard, Elsebet
- Pallares, Nathalie R.
- Piccione, Maria
- Plomp, Astrid S.
- Poulton, Cathryn
- Reilly, Jack
- Rius, Rocio
- Robertson, Stephen
- Rooney, Kathleen
- Rousseau, Justine
- Santen, Gijs W. E.
- Santos‐Simarro, Fernando
- Schijns, Josephine
- Squeo, Gabriella M.
- John, Miya St
- Thauvin‐Robinet, Christel
- Traficante, Giovanna
- Sluijs, Pleuntje J.
- Vergano, Samantha A.
- Vos, Niels
- Walden, Kellie K.
- Azmanov, Dimitar
- Balci, Tugce B.
- Banka, Siddharth
- Gecz, Jozef
- Henneman, Peter
- Lee, Jennifer A.
- Mannens, Marcel M. A. M.
- Roscioli, Tony
- Siu, Victoria
- Amor, David J.
- Baynam, Gareth
- Bend, Eric G.
- Boycott, Kym
- Brunetti‐Pierri, Nicola
- Campeau, Philippe M.
- Campion, Dominique
- Christodoulou, John
- Dyment, David
- Esber, Natacha
- Fahrner, Jill A.
- Fleming, Mark D.
- Genevieve, David
- Heron, Delphine
- Husson, Thomas
- Kernohan, Kristin D.
- McNeill, Alisdair
- Menke, Leonie A.
- Merla, Giuseppe
- Prontera, Paolo
- Rockman‐Greenberg, Cheryl
- Schwartz, Charles
- Skinner, Steven A.
- Stevenson, Roger E.
- Vincent, Marie
- Vitobello, Antonio
- Tartaglia, Marco
- Alders, Marielle
- Tedder, Matthew L.
- Sadikovic, Bekim
2022
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Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.335-347
2023
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American journal of medical genetics. Part A, 2021-03, Vol.185 (3), p.702-709
2021
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Hepatology communications, 2022-12, Vol.6 (12), p.3597-3597
2022
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American journal of medical genetics. Part A, 2018-02, Vol.176 (2), p.426-430
2018
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EMBO molecular medicine, 2023-04, Vol.15 (4), p.e17033-n/a
2023
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American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1497-1514
2022
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EMBO molecular medicine, 2013-03, Vol.5 (3), p.397-412
2013
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Acta Paediatrica, 2019-03, Vol.108 (3), p.564-565
2019
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American journal of medical genetics. Part A, 2020-07, Vol.182 (7), p.1846-1847
2020
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American journal of medical genetics. Part A, 2022-10, Vol.188 (10), p.3032-3040
- Cappuccio, Gerarda
- De Bernardi, Margherita Lucia
- Morlando, Alessia
- Peduto, Cristina
- Scala, Iris
- Pinelli, Michele
- Bellacchio, Emanuele
- Gallo, Flavio Gioele
- Magli, Adriano
- Plaitano, Carmen
- Serrano, Mercedes
- Pías, Leticia
- Català, Jaume
- Bolasell, Mercè
- Torella, Annalaura
- Nigro, Vincenzo
- Zanni, Ginevra
- Brunetti‐Pierri, Nicola
2022
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Clinical genetics, 2020-06, Vol.97 (6), p.940-942
2020
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Birth defects research, 2022-08, Vol.114 (13), p.759-767
- Romano, Ferruccio
- Falco, Mariateresa
- Cappuccio, Gerarda
- Brunetti‐Pierri, Nicola
- Lonardo, Fortunato
- Torella, Annalaura
- Digilio, Maria Cristina
- Dentici, Maria Lisa
- Alfieri, Paolo
- Agolini, Emanuele
- Novelli, Antonio
- Garavelli, Livia
- Accogli, Andrea
- Striano, Pasquale
- Scarano, Gioacchino
- Nigro, Vincenzo
- Scala, Marcello
- Capra, Valeria
2022
Link zum Volltext
Epilepsia (Copenhagen), 2021-01, Vol.62 (1), p.e13-e21
- Schneider, Amy L.
- Myers, Candace T.
- Muir, Alison M.
- Calvert, Sophie
- Basinger, Alice
- Perry, M. Scott
- Rodan, Lance
- Helbig, Katherine L.
- Chambers, Chelsea
- Gorman, Kathleen M.
- King, Mary D.
- Donkervoort, Sandra
- Soldatos, Ariane
- Bönnemann, Carsten G.
- Spataro, Nino
- Gabau, Elisabeth
- Arellano, Montserrat
- Cappuccio, Gerarda
- Brunetti‐Pierri, Nicola
- Rossignol, Elsa
- Hamdan, Fadi F.
- Michaud, Jacques L.
- Balak, Christopher
- Mefford, Heather C.
- Scheffer, Ingrid E.
2021
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American journal of medical genetics. Part A, 2022-05, Vol.188 (5), p.1384-1395
2022
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American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2743-2746
2017
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Liver international, 2022-07, Vol.42 (7), p.1593-1604
- Aronson, Sem J.
- Junge, Norman
- Trabelsi, Mediha
- Kelmemi, Wided
- Hubert, Aurelie
- Brigatti, Karlla W.
- Fox, Michael D.
- Knegt, Robert J.
- Escher, Johanna C.
- Ginocchio, Virginia M.
- Iorio, Raffaele
- Zhu, Yan
- Özçay, Figen
- Rahim, Fakher
- El‐Shabrawi, Mortada H.F.
- Shteyer, Eyal
- Di Giorgio, Angelo
- D'Antiga, Lorenzo
- Mingozzi, Federico
- Brunetti‐Pierri, Nicola
- Strauss, Kevin A.
- Labrune, Philippe
- Mrad, Ridha
- Baumann, Ulrich
- Beuers, Ulrich
- Bosma, Piter J.
2022
Link zum Volltext
Human mutation, 2020-10, Vol.41 (10), p.1761-1774
- Kaur, Simranpreet
- Van Bergen, Nicole J.
- Verhey, Kristen J.
- Nowell, Cameron J.
- Budaitis, Breane
- Yue, Yang
- Ellaway, Carolyn
- Brunetti‐Pierri, Nicola
- Cappuccio, Gerarda
- Bruno, Irene
- Boyle, Lia
- Nigro, Vincenzo
- Torella, Annalaura
- Roscioli, Tony
- Cowley, Mark J.
- Massey, Sean
- Sonawane, Rhea
- Burton, Matthew D.
- Schonewolf‐Greulich, Bitten
- Tümer, Zeynep
- Chung, Wendy K.
- Gold, Wendy A.
- Christodoulou, John
2020
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