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Orphanet journal of rare diseases, 2023-11, Vol.18 (1), p.1-357, Article 357
2023
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American journal of medical genetics. Part A, 2013-10, Vol.161A (10), p.2431-2443
2013
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Molecular genetics and metabolism, 2014-09, Vol.113 (1-2), p.84-91
2014
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Blood advances, 2022-03, Vol.6 (5), p.1512-1524
- Chiesa, Robert
- Boelens, Jaap Jan
- Duncan, Christine N.
- Kühl, Jörn-Sven
- Sevin, Caroline
- Kapoor, Neena
- Prasad, Vinod K.
- Lindemans, Caroline A.
- Jones, Simon A.
- Amartino, Hernan M.
- Algeri, Mattia
- Bunin, Nancy
- Diaz-de-Heredia, Cristina
- Loes, Daniel J.
- Shamir, Esther
- Timm, Alison
- McNeil, Elizabeth
- Dietz, Andrew C.
- Orchard, Paul J.
2022
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Neuromuscular disorders : NMD, 2007-01, Vol.17 (1), p.16-22
2007
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Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S99-S100
2016
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Transplantation and cellular therapy, 2022-03, Vol.28 (3), p.S2-S4
- Duncan, Christine N.
- Kühl, Jörn-Sven
- Chiesa, Robert
- Boelens, Jaap-Jan
- Eichler, Florian
- Sevin, Caroline
- Dalle, Jean-Hugues
- De Oliveira, Satiro N.
- Amartino, Hernan M.
- Kapoor, Neena
- Prasad, Vinod K.
- Jones, Simon
- Algeri, Mattia
- Bunin, Nancy J.
- Diaz-de-Heredia, Cristina
- Thrasher, Adrian J.
- Fernandes, Juliana Folloni
- Smith, Nicholas
- Shah, Ami J
- Locatelli, Franco
- Engelen, Marc
- Lindemans, Caroline A.
- Dietz, Andrew C.
- Pan, Lin
- Sieker, Jakob
- Williams, David A.
- Orchard, Paul J.
2022
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Transplantation and cellular therapy, 2022-03, Vol.28 (3), p.S2-S4
- Duncan, Christine N.
- Kühl, Jörn-Sven
- Chiesa, Robert
- Boelens, Jaap-Jan
- Eichler, Florian
- Sevin, Caroline
- Dalle, Jean-Hugues
- De Oliveira, Satiro N.
- Amartino, Hernan M.
- Kapoor, Neena
- Prasad, Vinod K.
- Jones, Simon
- Algeri, Mattia
- Bunin, Nancy J.
- Diaz-de-Heredia, Cristina
- Thrasher, Adrian J.
- Fernandes, Juliana Folloni
- Smith, Nicholas
- Shah, Ami J
- Locatelli, Franco
- Engelen, Marc
- Lindemans, Caroline A.
- Dietz, Andrew C.
- Pan, Lin
- Sieker, Jakob
- Williams, David A.
- Orchard, Paul J.
2022
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Transplantation and cellular therapy, 2021-03, Vol.27 (3), p.S318-S319
2021
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Transplantation and cellular therapy, 2021-03, Vol.27 (3), p.S114
2021
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Transplantation and cellular therapy, 2024-02, Vol.30 (2), p.S232-S233
- Duncan, Christine N.
- Orchard, Paul J.
- Eichler, Florian S.
- Kühl, Jörn-Sven
- De Oliveira, Satiro N.
- Thrasher, Adrian J.
- Chiesa, Robert
- Dalle, Jean-Hugues
- Shah, Ami J.
- Locatelli, Franco
- Smith, Nicholas J.C.
- Fernandes, Juliana Folloni
- Amartino, Hernán M.
- Lindemans, Caroline A.
- Zhao, Jack
- Singh, Ajay
- Thakar, Himal L.
- Prasad, Vinod K.
- Dietz, Andrew C.
- Williams, David A.
2024
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Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S83-S83
2016
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Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S52-S52
2017
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Archivos argentinos de pediatría, 2012-08, Vol.110 (4), p.323-327
2012
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Archivos argentinos de pediatría, 2012-08, Vol.110 (4), p.323-327
2012
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The New England journal of medicine, 2017-10, Vol.377 (17), p.1630-1638
- Eichler, Florian
- Duncan, Christine
- Musolino, Patricia L
- Orchard, Paul J
- De Oliveira, Satiro
- Thrasher, Adrian J
- Armant, Myriam
- Dansereau, Colleen
- Lund, Troy C
- Miller, Weston P
- Raymond, Gerald V
- Sankar, Raman
- Shah, Ami J
- Sevin, Caroline
- Gaspar, H. Bobby
- Gissen, Paul
- Amartino, Hernan
- Bratkovic, Drago
- Smith, Nicholas J.C
- Paker, Asif M
- Shamir, Esther
- O’Meara, Tara
- Davidson, David
- Aubourg, Patrick
- Williams, David A
2017
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The New England journal of medicine, 2016-08, Vol.375 (6), p.545-555
- Germain, Dominique P
- Hughes, Derralynn A
- Nicholls, Kathleen
- Bichet, Daniel G
- Giugliani, Roberto
- Wilcox, William R
- Feliciani, Claudio
- Shankar, Suma P
- Ezgu, Fatih
- Amartino, Hernan
- Bratkovic, Drago
- Feldt-Rasmussen, Ulla
- Nedd, Khan
- Sharaf El Din, Usama
- Lourenco, Charles M
- Banikazemi, Maryam
- Charrow, Joel
- Dasouki, Majed
- Finegold, David
- Giraldo, Pilar
- Goker-Alpan, Ozlem
- Longo, Nicola
- Scott, C. Ronald
- Torra, Roser
- Tuffaha, Ahmad
- Jovanovic, Ana
- Waldek, Stephen
- Packman, Seymour
- Ludington, Elizabeth
- Viereck, Christopher
- Kirk, John
- Yu, Julie
- Benjamin, Elfrida R
- Johnson, Franklin
- Lockhart, David J
- Skuban, Nina
- Castelli, Jeff
- Barth, Jay
- Barlow, Carrolee
- Schiffmann, Raphael
2016
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Annals of neurology, 2016-06, Vol.79 (6), p.1031-1037
- Vanderver, Adeline
- Simons, Cas
- Helman, Guy
- Crawford, Joanna
- Wolf, Nicole I.
- Bernard, Geneviève
- Pizzino, Amy
- Schmidt, Johanna L.
- Takanohashi, Asako
- Miller, David
- Khouzam, Amirah
- Rajan, Vani
- Ramos, Erica
- Chowdhury, Shimul
- Hambuch, Tina
- Ru, Kelin
- Baillie, Gregory J.
- Grimmond, Sean M.
- Caldovic, Ljubica
- Devaney, Joseph
- Bloom, Miriam
- Evans, Sarah H.
- Murphy, Jennifer L. P.
- McNeill, Nathan
- Fogel, Brent L.
- Schiffmann, Raphael
- van der Knaap, Marjo S.
- Taft, Ryan J.
2016
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Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.243-252
- Carrozzo, Rosalba
- Verrigni, Daniela
- Rasmussen, Magnhild
- de Coo, Rene
- Amartino, Hernan
- Bianchi, Marzia
- Buhas, Daniela
- Mesli, Samir
- Naess, Karin
- Born, Alfred Peter
- Woldseth, Berit
- Prontera, Paolo
- Batbayli, Mustafa
- Ravn, Kirstine
- Joensen, Fróði
- Cordelli, Duccio M.
- Santorelli, Filippo Maria
- Tulinius, Mar
- Darin, Niklas
- Duno, Morten
- Jouvencel, Philippe
- Burlina, Alberto
- Stangoni, Gabriela
- Bertini, Enrico
- Redonnet-Vernhet, Isabelle
- Wibrand, Flemming
- Dionisi-Vici, Carlo
- Uusimaa, Johanna
- Vieira, Paivi
- Osorio, Andrés Nascimento
- McFarland, Robert
- Taylor, Robert W.
- Holme, Elisabeth
- Ostergaard, Elsebet
2016
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The Journal of pediatrics, 2022-10, Vol.249, p.50-58.e2
- Okur, Ilyas
- Ezgu, Fatih
- Giugliani, Roberto
- Muschol, Nicole
- Koehn, Anja
- Amartino, Hernan
- Harmatz, Paul
- de Castro Lopez, Maria J.
- Couce, Maria Luz
- Lin, Shuan-Pei
- Batzios, Spyros
- Cleary, Maureen
- Solano, Martha
- Peters, Heidi
- Lee, Joy
- Nestrasil, Igor
- Shaywitz, Adam J.
- Maricich, Stephen M.
- Kuca, Bernice
- Kovalchin, Joseph
- Zanelli, Eric
2022
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Molecular genetics and metabolism, 2021-02, Vol.132 (2), p.S44-S44
2021
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Molecular genetics and metabolism reports, 2020-06, Vol.23, p.100572-100572, Article 100572
2020
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European journal of human genetics : EJHG, 2008-08, Vol.16 (8), p.875-879
2008
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Molecular therapy, 2016-05, Vol.24, p.S98-S99
- Eichler, Florian S.
- Duncan, Christine
- Amartino, Hernan
- Aziz-Bose, Razina
- Baruchel, André
- Dansereau, Colleen
- Dalle, Jean-Hugues
- Gaspar, H. Bobby
- Gissen, Paul
- Kohn, Donald B.
- Larghero, Jerome
- Lund, Troy C.
- Miller, Weston P.
- Musolino, Patricia L.
- O'Meara, Tara
- Orchard, Paul J.
- Paker, Asif M.
- Shah, Ami J.
- Shamir, Esther
- Raymond, Gerald V.
- Sankar, Raman
- Smith, Nicholas J.C.
- Thrasher, Adrian J.
- Aubourg, Patrick
- Williams, David A.
2016
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Molecular therapy, 2016-05, Vol.24, p.S98-S99
- Eichler, Florian S.
- Duncan, Christine
- Amartino, Hernan
- Aziz-Bose, Razina
- Baruchel, André
- Dansereau, Colleen
- Dalle, Jean-Hugues
- Gaspar, H. Bobby
- Gissen, Paul
- Kohn, Donald B.
- Larghero, Jerome
- Lund, Troy C.
- Miller, Weston P.
- Musolino, Patricia L.
- O'Meara, Tara
- Orchard, Paul J.
- Paker, Asif M.
- Shah, Ami J.
- Shamir, Esther
- Raymond, Gerald V.
- Sankar, Raman
- Smith, Nicholas J.C.
- Thrasher, Adrian J.
- Aubourg, Patrick
- Williams, David A.
2016
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