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PLoS genetics, 2013, Vol.9 (12), p.e1003989-e1003989
2013
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Clinical chemistry and laboratory medicine, 2022-02, Vol.60 (3), p.85
2022
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Clinical chemistry and laboratory medicine, 2018-06, Vol.56 (7), p.e160
2018
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Journal of inherited metabolic disease, 2022-07, Vol.45 (4), p.848-861
- Yverneau, Mathilde
- Leroux, Stéphanie
- Imbard, Apolline
- Gleich, Florian
- Arion, Alina
- Moreau, Caroline
- Nassogne, Marie‐Cécile
- Szymanowski, Marie
- Tardieu, Marine
- Touati, Guy
- Bueno, María
- Chapman, Kimberly A.
- Chien, Yin‐Hsiu
- Huemer, Martina
- Ješina, Pavel
- Janssen, Mirian C. H.
- Kölker, Stefan
- Kožich, Viktor
- Lavigne, Christian
- Lund, Allan Meldgaard
- Mochel, Fanny
- Morris, Andrew
- Pons, Mónica Ruiz
- Porras‐Hurtado, Gloria Liliana
- Benoist, Jean‐François
- Damaj, Léna
- Schiff, Manuel
- Martins, Ana Maria
- Alonso, Javier Blasco
- Chabrol, Brigitte
- Crushell, Ellen
- Dionisi‐Vici, Carlo
- Grünewald, Stephanie
- Mention, Karine
- Mundy, Helen
- Murphy, Elaine
- Fraile, Pilar Quijada
- Ruiz, Carlos José
- Ruiz Gómez, Maria Ángeles
- Santra, Saikat
- Scherer, Thomas
- Stainforth, Collette
- Stepien, Karolina M.
- Sunder‐Plassmann, Gere
- Van Hove, Johan L. K.
2022
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Metabolic brain disease, 2018-06, Vol.33 (3), p.875-884
2018
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Molecular genetics and metabolism, 2022-07, Vol.136 (3), p.190-198
2022
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Heterogeneous colonic content: A prenatal sonographic manifestation of lysinuric protein intolerance
2020
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Human mutation, 2009-05, Vol.30 (5), p.741-748
- Tessa, Alessandra
- Fiermonte, Giuseppe
- Dionisi-Vici, Carlo
- Paradies, Eleonora
- Baumgartner, Matthias R
- Chien, Yin-Hsiu
- Loguercio, Carmela
- de Baulny, Helene Ogier
- Nassogne, Marie-Cecile
- Schiff, Manuel
- Deodato, Federica
- Parenti, Giancarlo
- Lane Rutledge, S
- Antonia Vilaseca, M
- Melone, Mariarosa A.B
- Scarano, Gioacchino
- Aldamiz-Echevarría, Luiz
- Besley, Guy
- Walter, John
- Martinez-Hernandez, Eugenia
- Hernandez, Jose M
- Pierri, Ciro L
- Palmieri, Ferdinando
- Santorelli, Filippo M
2009
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American journal of medical genetics. Part A, 2024-06, Vol.194 (6), p.e63551-n/a
2024
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Journal of inherited metabolic disease, 2022-03, Vol.45 (2), p.215-222
2022
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Genetics in medicine, 2019-09, Vol.21 (9), p.2025-2035
- Besnard, Thomas
- Sloboda, Natacha
- Goldenberg, Alice
- Küry, Sébastien
- Cogné, Benjamin
- Breheret, Flora
- Trochu, Eva
- Conrad, Solène
- Vincent, Marie
- Deb, Wallid
- Balguerie, Xavier
- Barbarot, Sébastien
- Baujat, Geneviève
- Ben-Omran, Tawfeg
- Bursztejn, Anne-Claire
- Carmignac, Virginie
- Datta, Alexandre N.
- Delignières, Aline
- Faivre, Laurence
- Gardie, Betty
- Guéant, Jean-Louis
- Kuentz, Paul
- Lenglet, Marion
- Nassogne, Marie-Cécile
- Ramaekers, Vincent
- Schnur, Rhonda E.
- Si, Yue
- Torti, Erin
- Thevenon, Julien
- Vabres, Pierre
- Van Maldergem, Lionel
- Wand, Dorothea
- Wiedemann, Arnaud
- Cariou, Bertrand
- Redon, Richard
- Lamazière, Antonin
- Bézieau, Stéphane
- Feillet, Francois
- Isidor, Bertrand
2019
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European journal of paediatric neurology, 2024-01, Vol.48, p.69-77
2024
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European journal of human genetics : EJHG, 2018-01, Vol.26 (1), p.64-74
- Moortgat, Stéphanie
- Berland, Siren
- Aukrust, Ingvild
- Maystadt, Isabelle
- Baker, Laura
- Benoit, Valerie
- Caro-Llopis, Alfonso
- Cooper, Nicola S
- Debray, François-Guillaume
- Faivre, Laurence
- Gardeitchik, Thatjana
- Haukanes, Bjørn I
- Houge, Gunnar
- Kivuva, Emma
- Martinez, Francisco
- Mehta, Sarju G
- Nassogne, Marie-Cécile
- Powell-Hamilton, Nina
- Pfundt, Rolph
- Rosello, Monica
- Prescott, Trine
- Vasudevan, Pradeep
- van Loon, Barbara
- Verellen-Dumoulin, Christine
- Verloes, Alain
- Lippe, Charlotte von der
- Wakeling, Emma
- Wilkie, Andrew O M
- Wilson, Louise
- Yuen, Amy
- Study, Ddd
- Low, Karen J
- Newbury-Ecob, Ruth A
2018
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European journal of pediatrics, 2023-05, Vol.182 (5), p.1941-1948
2023
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American journal of medical genetics. Part A, 2016-11, Vol.170A (11), p.2927-2933
2016
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Orphanet journal of rare diseases, 2018-07, Vol.13 (1), p.120-120, Article 120
- Repp, Birgit M
- Mastantuono, Elisa
- Alston, Charlotte L
- Schiff, Manuel
- Haack, Tobias B
- Rötig, Agnes
- Ardissone, Anna
- Lombès, Anne
- Catarino, Claudia B
- Diodato, Daria
- Schottmann, Gudrun
- Poulton, Joanna
- Burlina, Alberto
- Jonckheere, An
- Munnich, Arnold
- Rolinski, Boris
- Ghezzi, Daniele
- Rokicki, Dariusz
- Wellesley, Diana
- Martinelli, Diego
- Wenhong, Ding
- Lamantea, Eleonora
- Ostergaard, Elsebet
- Pronicka, Ewa
- Pierre, Germaine
- Smeets, Hubert J M
- Wittig, Ilka
- Scurr, Ingrid
- de Coo, Irenaeus F M
- Moroni, Isabella
- Smet, Joél
- Mayr, Johannes A
- Dai, Lifang
- de Meirleir, Linda
- Schuelke, Markus
- Zeviani, Massimo
- Morscher, Raphael J
- McFarland, Robert
- Seneca, Sara
- Klopstock, Thomas
- Meitinger, Thomas
- Wieland, Thomas
- Strom, Tim M
- Herberg, Ulrike
- Ahting, Uwe
- Sperl, Wolfgang
- Nassogne, Marie-Cecile
- Ling, Han
- Fang, Fang
- Freisinger, Peter
- Van Coster, Rudy
- Strecker, Valentina
- Taylor, Robert W
- Häberle, Johannes
- Vockley, Jerry
- Prokisch, Holger
- Wortmann, Saskia
2018
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NeuroImage (Orlando, Fla.), 2006-01, Vol.29 (2), p.493-504
2006
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European journal of human genetics : EJHG, 2024-02, Vol.32 (2), p.224-231
- Panagiotakaki, Eleni
- Tiziano, Francesco D
- Mikati, Mohamad A
- Vijfhuizen, Lisanne S
- Nicole, Sophie
- Lesca, Gaetan
- Abiusi, Emanuela
- Novelli, Agnese
- Di Pietro, Lorena
- Harder, Aster V E
- Walley, Nicole M
- De Grandis, Elisa
- Poulat, Anne-Lise
- Portes, Vincent Des
- Lépine, Anne
- Nassogne, Marie-Cecile
- Arzimanoglou, Alexis
- Vavassori, Rosaria
- Koenderink, Jan
- Thompson, Christopher H
- George, Jr, Alfred L
- Gurrieri, Fiorella
- van den Maagdenberg, Arn M J M
- Heinzen, Erin L
2024
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European journal of medical genetics, 2020-09, Vol.63 (9), p.103991-103991, Article 103991
2020
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Clinical case reports, 2022-12, Vol.10 (12), p.e6686-n/a
2022
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Journal of medical genetics, 2016-12, Vol.53 (12), p.820-827
2016
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European journal of paediatric neurology, 2008-01, Vol.12 (1), p.46-50
2008
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Acta neuropathologica communications, 2023-08, Vol.11 (1), p.131-131, Article 131
2023
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Journal of cognitive neuroscience, 2010-05, Vol.22 (5), p.860-874
2010
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European journal of paediatric neurology, 2016-09, Vol.20 (5), p.709-713
2016
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