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The Journal of pediatrics, 2015-06, Vol.166 (6), p.1346-1350
2015
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Genetics in Medicine Open, 2023, Vol.1 (1), p.100045, Article 100045
2023
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Genetics in medicine, 2021-08, Vol.23 (8), p.1534-1542
2021
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Nature communications, 2017-07, Vol.8 (1), p.16077-16, Article 16077
- Di Gioia, Silvio Alessandro
- Connors, Samantha
- Matsunami, Norisada
- Cannavino, Jessica
- Rose, Matthew F
- Gilette, Nicole M
- Artoni, Pietro
- de Macena Sobreira, Nara Lygia
- Chan, Wai-Man
- Webb, Bryn D
- Robson, Caroline D
- Cheng, Long
- Van Ryzin, Carol
- Ramirez-Martinez, Andres
- Mohassel, Payam
- Leppert, Mark
- Scholand, Mary Beth
- Grunseich, Christopher
- Ferreira, Carlos R
- Hartman, Tyler
- Hayes, Ian M
- Morgan, Tim
- Markie, David M
- Fagiolini, Michela
- Swift, Amy
- Chines, Peter S
- Speck-Martins, Carlos E
- Collins, Francis S
- Jabs, Ethylin Wang
- Bönnemann, Carsten G
- Olson, Eric N
- Carey, John C
- Robertson, Stephen P
- Manoli, Irini
- Engle, Elizabeth C
2017
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Trends in endocrinology and metabolism, 2007-07, Vol.18 (5), p.190-198
2007
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Molecular metabolism (Germany), 2016-10, Vol.5 (10), p.926-936
2016
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Human genetics, 2021-12, Vol.140 (12), p.1709-1731
- Whitman, Mary C.
- Barry, Brenda J.
- Robson, Caroline D.
- Facio, Flavia M.
- Van Ryzin, Carol
- Chan, Wai-Man
- Lehky, Tanya J.
- Thurm, Audrey
- Zalewski, Christopher
- King, Kelly A.
- Brewer, Carmen
- Almpani, Konstantinia
- Lee, Janice S.
- Delaney, Angela
- FitzGibbon, Edmond J.
- Lee, Paul R.
- Toro, Camilo
- Paul, Scott M.
- Abdul-Rahman, Omar A.
- Webb, Bryn D.
- Jabs, Ethylin Wang
- Moller, Hans Ulrik
- Larsen, Dorte Ancher
- Antony, Jayne H.
- Troedson, Christopher
- Ma, Alan
- Ragnhild, Glad
- Wirgenes, Katrine V.
- Tham, Emma
- Kvarnung, Malin
- Maarup, Timothy James
- MacKinnon, Sarah
- Hunter, David G.
- Collins, Francis S.
- Manoli, Irini
- Engle, Elizabeth C.
2021
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Orphanet journal of rare diseases, 2021-04, Vol.16 (1), p.158-17, Article 158
2021
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Proceedings of the National Academy of Sciences - PNAS, 2013-08, Vol.110 (33), p.13552-13557
- Manoli, Irini
- Sysol, Justin R.
- Li, Lingli
- Houillier, Pascal
- Garone, Caterina
- Wang, Cindy
- Zerfas, Patricia M.
- Cusmano-Ozog, Kristina
- Young, Sarah
- Trivedi, Niraj S.
- Cheng, Jun
- Sloan, Jennifer L.
- Chandler, Randy J.
- Abu-Asab, Mones
- Tsokos, Maria
- Elkahloun, Abdel G.
- Rosen, Seymour
- Enns, Gregory M.
- Berry, Gerard T.
- Hoffmann, Victoria
- DiMauro, Salvatore
- Schnermann, Jurgen
- Venditti, Charles P.
2013
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Ophthalmology (Rochester, Minn.), 2016-03, Vol.123 (3), p.571-582
2016
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BMC cancer, 2020-03, Vol.20 (1), p.256-256, Article 256
2020
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The Journal of clinical investigation, 2007-06, Vol.117 (6), p.1585-1594
2007
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The American journal of clinical nutrition, 2011, Vol.93 (1), p.47-56
2011
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Science advances, 2019-08, Vol.5 (8), p.eaaw8357
2019
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Genetics in medicine, 2021-11, Vol.23 (11), p.2233-2233
- Manoli, Irini
- Pass, Alexandra R.
- Harrington, Elizabeth A.
- Sloan, Jennifer L.
- Gagné, Jack
- McCoy, Samantha
- Bell, Sarah L.
- Hattenbach, Jacob D.
- Leitner, Brooks P.
- Duckworth, Courtney J.
- Fletcher, Laura A.
- Cassimatis, Thomas M.
- Galarreta, Carolina I.
- Thurm, Audrey
- Snow, Joseph
- Van Ryzin, Carol
- Ferry, Susan
- Mew, Nicholas Ah
- Shchelochkov, Oleg A.
- Chen, Kong Y.
- Venditti, Charles P.
2021
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Genetics in medicine, 2021-08, Vol.23 (8), p.1522-1533
- Manoli, Irini
- Pass, Alexandra R.
- Harrington, Elizabeth A.
- Sloan, Jennifer L.
- Gagné, Jack
- McCoy, Samantha
- Bell, Sarah L.
- Hattenbach, Jacob D.
- Leitner, Brooks P.
- Duckworth, Courtney J.
- Fletcher, Laura A.
- Cassimatis, Thomas M.
- Galarreta, Carolina I.
- Thurm, Audrey
- Snow, Joseph
- Van Ryzin, Carol
- Ferry, Susan
- Mew, Nicholas Ah
- Shchelochkov, Oleg A.
- Chen, Kong Y.
- Venditti, Charles P.
2021
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Molecular genetics and metabolism reports, 2024-06, Vol.39, p.101089, Article 101089
2024
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Pediatrics (Evanston), 2012-06, Vol.129 (6), p.e1541
2012
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Molecular therapy. Methods & clinical development, 2022-12, Vol.27, p.61-72
2022
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Molecular therapy. Methods & clinical development, 2021-09, Vol.22, p.279-292
2021
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Science signaling, 2009-02, Vol.2 (57), p.ra5
2009
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JIMD reports, 2020-01, Vol.51 (1), p.17-24
2020
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The American journal of pathology, 2012-04, Vol.180 (4), p.1431-1440
2012
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American journal of medical genetics. Part A, 2021-11, Vol.185 (11), p.3350-3358
2021
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The Journal of biological chemistry, 2006-04, Vol.281 (14), p.9118-9126
2006
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