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The New England journal of medicine, 2024-02, Vol.390 (5), p.467-470
2024
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Neuroscience letters, 2021-11, Vol.764, p.136195-136195, Article 136195
2021
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Journal of lipid research, 2019-03, Vol.60 (3), p.475-483
2019
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Nature reviews. Disease primers, 2018-10, Vol.4 (1), p.27-27, Article 27
2018
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Molecular genetics and metabolism, 2016-04, Vol.117 (4), p.393-400
2016
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Journal of lipid research, 2018-03, Vol.59 (3), p.550-563
2018
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JAMA : the journal of the American Medical Association, 2011-05, Vol.305 (18), p.1904
2011
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Frontiers in genetics, 2021-09, Vol.12, p.734878-734878
2021
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Molecular genetics and metabolism, 2020-03, Vol.129 (3), p.228-235
2020
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Orphanet journal of rare diseases, 2020-08, Vol.15 (1), p.1-199, Article 199
2020
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Journal of lipid research, 2023-12, Vol.64 (12), p.100463-100463, Article 100463
2023
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Scientific reports, 2022-06, Vol.12 (1), p.9186-9186, Article 9186
2022
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Pediatrics (Evanston), 2011-11, Vol.128 (5), p.e1233
2011
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Nature medicine, 2022-02, Vol.28 (2), p.251-259
- Flotte, Terence R
- Cataltepe, Oguz
- Puri, Ajit
- Batista, Ana Rita
- Moser, Richard
- McKenna-Yasek, Diane
- Douthwright, Catherine
- Gernoux, Gwladys
- Blackwood, Meghan
- Mueller, Christian
- Tai, Phillip W L
- Jiang, Xuntian
- Bateman, Scot
- Spanakis, Spiro G
- Parzych, Julia
- Keeler, Allison M
- Abayazeed, Aly
- Rohatgi, Saurabh
- Gibson, Laura
- Finberg, Robert
- Barton, Bruce A
- Vardar, Zeynep
- Shazeeb, Mohammed Salman
- Gounis, Matthew
- Tifft, Cynthia J
- Eichler, Florian S
- Brown, Jr, Robert H
- Martin, Douglas R
- Gray-Edwards, Heather L
- Sena-Esteves, Miguel
2022
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The Journal of clinical investigation, 2024-01, Vol.134 (1), p.1-11
2024
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Current opinion in pediatrics, 2014-12, Vol.26 (6), p.626-633
2014
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Human molecular genetics, 2015-06, Vol.24 (11), p.3050-3057
2015
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Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.687-694
2023
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Genetics in Medicine Open, 2024, Vol.2, p.101133
2024
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Molecular genetics and metabolism reports, 2019-12, Vol.21, p.100513-100513, Article 100513
2019
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Journal of medical genetics, 2022-09, Vol.59 (9), p.865
- Minatogawa, Mari
- Unzaki, Ai
- Morisaki, Hiroko
- Syx, Delfien
- Sonoda, Tohru
- Janecke, Andreas R
- Slavotinek, Anne
- Voermans, Nicol C
- Lacassie, Yves
- Mendoza-Londono, Roberto
- Wierenga, Klaas J
- Jayakar, Parul
- Gahl, William A
- Tifft, Cynthia J
- Figuera, Luis E
- Hilhorst-Hofstee, Yvonne
- Maugeri, Alessandra
- Ishikawa, Ken
- Kobayashi, Tomoko
- Aoki, Yoko
- Ohura, Toshihiro
- Kawame, Hiroshi
- Kono, Michihiro
- Mochida, Kosuke
- Tokorodani, Chiho
- Kikkawa, Kiyoshi
- Morisaki, Takayuki
- Kobayashi, Tetsuyuki
- Nakane, Takaya
- Kubo, Akiharu
- Ranells, Judith D
- Migita, Ohsuke
- Sobey, Glenda
- Kaur, Anupriya
- Ishikawa, Masumi
- Yamaguchi, Tomomi
- Matsumoto, Naomichi
- Malfait, Fransiska
- Miyake, Noriko
- Kosho, Tomoki
2022
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Molecular genetics and metabolism, 2020-05, Vol.130 (1), p.49-57
- Davids, Mariska
- Menezes, Minal
- Guo, Yiran
- McLean, Scott D.
- Hakonarson, Hakon
- Collins, Felicity
- Worgan, Lisa
- Billington, Charles J.
- Maric, Irina
- Littlejohn, Rebecca Okashah
- Onyekweli, Tito
- Members of the UDN
- Adams, David R.
- Tifft, Cynthia J.
- Gahl, William A.
- Wolfe, Lynne A.
- Christodoulou, John
- Malicdan, May Christine V.
2020
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Genetics in medicine, 2012-01, Vol.14 (1), p.51-59
- Gahl, William A
- Markello, Thomas C
- Toro, Camilo
- Fajardo, Karin Fuentes
- Sincan, Murat
- Gill, Fred
- Carlson-Donohoe, Hannah
- Gropman, Andrea
- Pierson, Tyler Mark
- Golas, Gretchen
- Wolfe, Lynne
- Groden, Catherine
- Godfrey, Rena
- Nehrebecky, Michele
- Wahl, Colleen
- Landis, Dennis M D
- Yang, Sandra
- Madeo, Anne
- Mullikin, James C
- Boerkoel, Cornelius F
- Tifft, Cynthia J
- Adams, David
2012
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Molecular therapy, 2022-07, Vol.30 (7), p.2416-2428
- Davidson, Beverly L.
- Gao, Guangping
- Berry-Kravis, Elizabeth
- Bradbury, Allison M.
- Bönnemann, Carsten
- Buxbaum, Joseph D.
- Corcoran, Gavin R.
- Gray, Steven J.
- Gray-Edwards, Heather
- Kleiman, Robin J.
- Shaywitz, Adam J.
- Wang, Dan
- Zoghbi, Huda Y.
- Flotte, Terence R.
- Tauscher-Wisniewski, Sitra
- Tifft, Cynthia J.
- Sahin, Mustafa
2022
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Human mutation, 2012-04, Vol.33 (4), p.609-613
2012
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