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Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...Orphan drugs, 2015-01, Vol.5, p.33
2015
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Genetics in Medicine Open, 2024, Vol.2, p.101157, Article 101157
2024
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Genetics in medicine, 2019-08, Vol.21 (8), p.1899-1899
- Dines, Jennifer N.
- Golden-Grant, Katie
- LaCroix, Amy
- Muir, Alison M.
- Cintrón, Dianne Laboy
- McWalter, Kirsty
- Cho, Megan T.
- Sun, Angela
- Merritt, J. Lawrence
- Thies, Jenny
- Niyazov, Dmitriy
- Burton, Barbara
- Kim, Katherine
- Fleming, Leah
- Westman, Rachel
- Karachunski, Peter
- Dalton, Joline
- Basinger, Alice
- Ficicioglu, Can
- Helbig, Ingo
- Pendziwiat, Manuela
- Muhle, Hiltrud
- Helbig, Katherine L.
- Caliebe, Almuth
- Santer, René
- Becker, Kolja
- Suchy, Sharon
- Douglas, Ganka
- Millan, Francisca
- Begtrup, Amber
- Monaghan, Kristin G.
- Mefford, Heather C.
2019
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100485, Article 100485
2023
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100218, Article 100218
2023
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Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.273-274
2022
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Genetics in medicine, 2022-03, Vol.24 (3), p.S101-S101
2022
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Molecular genetics and metabolism, 2022-02, Vol.135 (2), p.S47-S47
2022
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Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107417, Article 107417
2023
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Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107437, Article 107437
2023
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Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107117, Article 107117
2023
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Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108229, Article 108229
2024
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Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108266, Article 108266
2024
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Molecular genetics and metabolism, 2024-04, Vol.141 (4), p.108212, Article 108212
2024
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Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107851, Article 107851
2024
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Journal of the Pediatric Orthopaedic Society of North America, 2024-02, Vol.6, p.100012, Article 100012
2024
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Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107949, Article 107949
2024
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Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107476, Article 107476
- Schwahn, Bernd C.
- Berry, Gerard T.
- Santra, Saikat
- Vernon, Hilary
- Li, Hong
- Lawrence Merritt, J.
- Schiff, Manuel
- Chabrol, Brigitte
- Heras, Javier De las
- Vockley, Jerry
- Lee, Chung
- Koeberl, Dwight
- Burton, Barbara
- Grunewald, Stephanie
- Morgan, Thomas
- Diaz, George
- Ficicioglu, Can
- Luo, Junxiang
- Attarwala, Husain
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- Liang, Min
- Guey, Lin T.
- Lukacs, Christine
- Martini, Paolo G.V.
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- Carrillo, Nuria
2023
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Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107475, Article 107475
- Schiff, Manuel
- Schwahn, Bernd C.
- Chabrol, Brigitte
- Lawrence Merritt, J.
- Vockley, Jerry
- Vernon, Hilary
- Berry, Gerard T.
- Santra, Saikat
- Lee, Chung
- Koeberl, Dwight
- Li, Hong
- Burton, Barbara
- Heras, Javier De las
- Diaz, George
- Faria-Urbina, Mariana
- Luo, Junxiang
- Attarwala, Husain
- Sikirica, Vanja
- Liang, Min
- Guey, Lin T.
- Lukacs, Christine
- Martini, Paolo G.V.
- Glaser, Ruchira
- Carrillo, Nuria
2023
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American journal of human genetics, 2023-08, Vol.110 (8), p.1377-1393
- Morleo, Manuela
- Briere, Lauren C.
- Rosello, Marion
- Tirozzi, Alfonsina
- Tammaro, Roberta
- High, Frances A.
- Adams, David R.
- Alvey, Justin
- Bale, Jim
- Bayrak-Toydemir, Pinar
- Beggs, Alan H.
- Behrens, Edward
- Bejerano, Gill
- Bonner, Devon
- Butte, Manish J.
- Byrd, William E.
- Cassini, Thomas
- Coakley, Terra R.
- Cobban, Laurel A.
- Cole, F. Sessions
- Colley, Heather A.
- Dai, Hongzheng
- Davis, Joie
- Douine, Emilie D.
- Eckstein, David J.
- Emrick, Lisa T.
- Hadley, Don
- Hamid, Rizwan
- Hassey, Kelly
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- Isasi, Rosario
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- Jarvik, Jeffrey
- Jobanputra, Vaidehi
- Karaviti, Lefkothea
- Korrick, Susan
- Krasnewich, Donna M.
- Lam, Byron
- Liu, Pengfei
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- Loscalzo, Joseph
- Maas, Richard L.
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Manolio, Teri A.
- Marwaha, Shruti
- Mirzaa, Ghayda
- Morava, Eva
- Nakano-Okuno, Mariko
- Nicholas, Sarah K.
- Pallais, J. Carl
- Raskind, Wendy
- Rosenwasser, Natalie
- Sampson, Jacinda B.
- Schedl, Timothy
- Shashi, Vandana
- Smith, Edward C.
- Sullivan, Jennifer A.
- Sweetser, David A.
- Sybert, Virginia
- Tekin, Mustafa
- Tran, Alyssa A.
- Ungar, Rachel A.
- Vanderver, Adeline
- Wallace, Stephanie
- Walley, Nicole M.
- Wambach, Jennifer
- Wan, Jijun
- Wang, Lee-kai
- Ward, Patricia A.
- Wegner, Daniel
- Wener, Mark
- Wenger, Tara
- Westerfield, Monte
- Wolfe, Lynne A.
- Worley, Kim
- Xiao, Changrui
- Torella, Annalaura
- Spampanato, Carmine
- Pinelli, Michele
- Massimello, Marta
- Leuzzi, Vincenzo
- Romano, Corrado
- Amenta, Simona
- Grandone, Anna
- Marini, Carla
- Bigoni, Stefania
- Trabacca, Antonio
- De Rinaldis, Marta
- Ferrante, Luigi
- Tenconi, Romano
- van Gassen, Koen L.I.
- Attie-Bitach, Tania
- Zollino, Marcella
2023
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Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.93-106
- Posset, Roland
- Garbade, Sven F.
- Boy, Nikolas
- Burlina, Alberto B.
- Dionisi‐Vici, Carlo
- Dobbelaere, Dries
- Garcia‐Cazorla, Angeles
- de Lonlay, Pascale
- Teles, Elisa Leão
- Vara, Roshni
- Mew, Nicholas Ah
- Batshaw, Mark L.
- Baumgartner, Matthias R.
- McCandless, Shawn E.
- Seminara, Jennifer
- Summar, Marshall
- Hoffmann, Georg F.
- Kölker, Stefan
- Burgard, Peter
- Berry, Susan A.
- Burrage, Lindsay
- Coughlin, Curtis
- Diaz, George A.
- Gallagher, Renata C.
- Gropman, Andrea
- Harding, Cary O.
- Lee, Brendan
- Le Mons, Cynthia
- Lawrence Merritt, J.
- Nagamani, Sandesh C. S.
- Schulze, Andreas
- Stricker, Tamar
- Tuchman, Mendel
- Waisbren, Susan
- WeisfeldAdams, James
- Wong, Derek
- Yudkoff, Marc
- Arnoux, JeanBaptiste
- Bari, Ivo
- Bosch, Annet M.
- Chabrol, Brigitte
- Chakrapani, Anupam
- CortèsSaladefont, Elisenda
- Couce, Maria L.
- Eyskens, Francois
- Laet, Corine
- Meirleir, Linda
- Freisinger, Peter
- Gleich, Florian
- Grünewald, Stephanie
- Häberle, Johannes
- Hwu, WuhLiang
- Jalan, Anil
- Karall, Daniela
- Lindner, Martin
- Lund, Allan M.
- Martinelli, Diego
- Murphy, Elaine
- Mühlhausen, Chris
- Olivieri, Giorgia
- Ottolenghi, Chris
- Rodrigues, Esmeralda
- Rubert, Laura
- Sarajlija, Adrijan
- Schiff, Manuel
- Sokal, Etienne
- SykutCegielska, Jolanta
- Walter, John H.
- Williams, Monique
- Zeman, Jiri
2019
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Genetics in Medicine Open, 2024, Vol.2, p.101886, Article 101886
- Marquez, Jonathan
- Cech, Jennifer N.
- Paschal, Cate R.
- Dingmann, Bri
- Scott, Anna I.
- Thies, Jenny M.
- Mills, Maria R.
- Albert, Catherine M.
- Beck, Anita E.
- Beckman, Erika
- Bonkowski, Emily S.
- Earl, Dawn L.
- Lam, Christina T.
- Mefford, Heather C.
- Merritt, J. Lawrence
- Nelson, Zoe
- Ohlsen, Timothy J.D.
- Taylor, Mallory R.
- Perlman, Seth J.
- Rudzinski, Erin R.
- Sikes, Megan C.
- Waligorski, Natalie
- Wenger, Tara L.
- Adam, Margaret P.
- Mirzaa, Ghayda M.
- Bennett, James T.
- Glass, Ian A.
- Sternen, Darci L.
- Miller, Danny E.
2024
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Journal of inherited metabolic disease, 2018-07, p.1-13
- Posset, Roland
- Garbade, Sven F
- Boy, Nikolas
- Burlina, Alberto B
- Dionisi-Vici, Carlo
- Dobbelaere, Dries
- Garcia-Cazorla, Angeles
- de Lonlay, Pascale
- Teles, Elisa Leão
- Vara, Roshni
- Ah Mew, Nicholas
- Batshaw, Mark L
- Baumgartner, Matthias R
- McCandless, Shawn
- Seminara, Jennifer
- Summar, Marshall
- Hoffmann, Georg F
- Kölker, Stefan
- Burgard, Peter
2018
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Molecular genetics and metabolism, 2013-02, Vol.108 (2), p.S46-S46
2013
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Mitochondrion, 2011-07, Vol.11 (4), p.669
2011
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