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Annals of translational medicine, 2018-12, Vol.6 (24), p.473-473
2018
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Reviews in endocrine & metabolic disorders, 2020-12, Vol.21 (4), p.479-493
2020
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Pediatrics (Evanston), 2019-08, Vol.144 (2), p.e20184101
2019
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American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2733-2739
2018
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Molecular genetics and metabolism, 2018-06, Vol.124 (2), p.109-113
2018
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The journal of clinical endocrinology and metabolism, 2023-01, Vol.108 (1), p.155-165
2023
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American journal of human genetics, 2024-04, Vol.111 (4), p.778-790
- Mullegama, Sureni V.
- Kiernan, Kaitlyn A.
- Torti, Erin
- Pavlovsky, Ethan
- Tilton, Nicholas
- Sekula, Austin
- Gao, Hua
- Alaimo, Joseph T.
- Engleman, Kendra
- Rush, Eric T.
- Blocker, Karli
- Dipple, Katrina M.
- Fettig, Veronica M.
- Hare, Heather
- Glass, Ian
- Grange, Dorothy K.
- Griffin, Michael
- Phornphutkul, Chanika
- Massingham, Lauren
- Mehta, Lakshmi
- Miller, Danny E.
- Thies, Jenny
- Merritt, J Lawrence
- Muller, Eric
- Osmond, Matthew
- Sawyer, Sarah L.
- Slaugh, Rachel
- Hickey, Rachel E.
- Wolf, Barry
- Choudhary, Sanjeev
- Simonović, Miljan
- Zhang, Yueqing
- Palculict, Timothy Blake
- Telegrafi, Aida
- Carere, Deanna Alexis
- Wentzensen, Ingrid M.
- Morrow, Michelle M.
- Monaghan, Kristin G.
- Yang, Jun
- Juusola, Jane
2024
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Journal Of Movement Disorders, 2022, 15(3), , pp.281-283
2022
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Pediatrics (Evanston), 2016-05, Vol.137 (5)
2016
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Molecular genetics and metabolism, 2014-04, Vol.111 (4), p.484-492
2014
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Pediatrics (Evanston), 2016-05, Vol.137 (5)
2016
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JPEN. Journal of parenteral and enteral nutrition, 2021-02, Vol.45 (2), p.230-238
2021
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Hepatology (Baltimore, Md.), 2013-06, Vol.57 (6), p.2171-2179
- Diaz, George A.
- Krivitzky, Lauren S.
- Mokhtarani, Masoud
- Rhead, William
- Bartley, James
- Feigenbaum, Annette
- Longo, Nicola
- Berquist, William
- Berry, Susan A.
- Gallagher, Renata
- Lichter‐Konecki, Uta
- Bartholomew, Dennis
- Harding, Cary O.
- Cederbaum, Stephen
- McCandless, Shawn E.
- Smith, Wendy
- Vockley, Gerald
- Bart, Stephen A.
- Korson, Mark S.
- Kronn, David
- Zori, Roberto
- Merritt, J. Lawrence
- C.S. Nagamani, Sandesh
- Mauney, Joseph
- LeMons, Cynthia
- Dickinson, Klara
- Moors, Tristen L.
- Coakley, Dion F.
- Scharschmidt, Bruce F.
- Lee, Brendan
2013
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Pediatric nephrology (Berlin, West), 2012-09, Vol.27 (9), p.1453-1464
2012
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Molecular genetics and metabolism, 2010, Vol.100 (Suppl 1), p.S97-S105
- Seminara, Jennifer
- Tuchman, Mendel
- Krivitzky, Lauren
- Krischer, Jeffrey
- Lee, Hye-Seung
- LeMons, Cynthia
- Baumgartner, Matthias
- Cederbaum, Stephen
- Diaz, George A.
- Feigenbaum, Annette
- Gallagher, Renata C.
- Harding, Cary O.
- Kerr, Douglas S.
- Lanpher, Brendan
- Lee, Brendan
- Lichter-Konecki, Uta
- McCandless, Shawn E.
- Merritt, J. Lawrence
- Oster-Granite, Mary Lou
- Seashore, Margretta R.
- Stricker, Tamar
- Summar, Marshall
- Waisbren, Susan
- Yudkoff, Marc
- Batshaw, Mark L.
2010
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Molecular therapy, 2009-03, Vol.17 (3), p.425-429
2009
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Orphan drugs, 2015-01, Vol.5, p.33
2015
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Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.123-126
2009
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Human genetics, 2021-10, Vol.140 (10), p.1471-1485
- Lerner, Shaul
- Eilam, Raya
- Adler, Lital
- Baruteau, Julien
- Kreiser, Topaz
- Tsoory, Michael
- Brandis, Alexander
- Mehlman, Tevie
- Ryten, Mina
- Botia, Juan A.
- Ruiz, Sonia Garcia
- Garcia, Alejandro Cisterna
- Dionisi-Vici, Carlo
- Ranucci, Giusy
- Spada, Marco
- Mazkereth, Ram
- McCarter, Robert
- Izem, Rima
- Balmat, Thomas J.
- Richesson, Rachel
- Gazit, Ehud
- Nagamani, Sandesh C. S.
- Erez, Ayelet
2021
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International journal of neonatal screening, 2020-10, Vol.6 (4), p.77
2020
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Journal of inherited metabolic disease, 2023-03, Vol.46 (2), p.326-334
- Dang Do, An N.
- Chang, Irene J.
- Jiang, Xutian
- Wolfe, Lynne A.
- Ng, Bobby G.
- Lam, Christina
- Schnur, Rhonda E.
- Allis, Katrina
- Hansikova, Hana
- Ondruskova, Nina
- O'Connor, Shawn D.
- Sanchez‐Valle, Amarilis
- Vollo, Arve
- Wang, Raymond Y.
- Wolfenson, Zoe
- Perreault, John
- Ory, Daniel S.
- Freeze, Hudson H.
- Merritt, J. Lawrence
- Porter, Forbes D.
2023
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American journal of medical genetics. Part A, 2006-08, Vol.140A (15), p.1669-1672
2006
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Genetics in medicine, 2021-10, Vol.23 (10), p.1933-1943
- Lin, Sheng-Jia
- Barbalho, Patricia G.
- Kaiyrzhanov, Rauan
- Maroofian, Reza
- Petree, Cassidy
- Severino, Mariasavina
- Stanley, Valentina
- Varshney, Pratishtha
- Bahena, Paulina
- Alzahrani, Fatema
- Alhashem, Amal
- Pagnamenta, Alistair T.
- Aubertin, Gudrun
- Estrada-Veras, Juvianee I.
- Hernández, Héctor Adrián Díaz
- Mazaheri, Neda
- Oza, Andrea
- Thies, Jenny
- Renaud, Deborah L.
- Dugad, Sanmati
- McEvoy, Jennifer
- Sultan, Tipu
- Pais, Lynn S.
- Tabarki, Brahim
- Villalobos-Ramirez, Daniel
- Rad, Aboulfazl
- Ambrose, J.C.
- Arumugam, P.
- Bleda, M.
- Boardman-Pretty, F.
- Boustred, C.R.
- Brittain, H.
- Caulfield, M.J.
- Chan, G.C.
- Fowler, T.
- Giess, A.
- Hamblin, A.
- Henderson, S.
- Hubbard, T.J.P.
- Jackson, R.
- Jones, L.J.
- Kasperaviciute, D.
- Kayikci, M.
- Kousathanas, A.
- Lahnstein, L.
- Leigh, S.E.A.
- Leong, I.U.S.
- Lopez, F.J.
- Maleady-Crowe, F.
- Moutsianas, L.
- Mueller, M.
- Murugaesu, N.
- Need, A.C.
- O‘Donovan, P.
- Odhams, C.A.
- Patch, C.
- Perez-Gil, D.
- Pereira, M.B.
- Pullinger, J.
- Rendon, A.
- Rogers, T.
- Savage, K.
- Sawant, K.
- Scott, R.H.
- Siddiq, A.
- Sieghart, A.
- Smith, S.C.
- Sosinsky, A.
- Stuckey, A.
- Tanguy, M.
- Thomas, E.R.A.
- Thompson, S.R.
- Tucci, A.
- Walsh, E.
- Welland, M.J.
- Williams, E.
- Witkowska, K.
- Wood, S.M.
- Galehdari, Hamid
- Ashrafzadeh, Farah
- Sahebzamani, Afsaneh
- Saeidi, Kolsoum
- Torti, Erin
- Elloumi, Houda Z.
- Mora, Sara
- Palculict, Timothy B.
- Yang, Hui
- Ben Fowler
- Joshi, Manali
- Behra, Martine
- Burgess, Shawn M.
- Nath, Swapan K.
- Kenna, Margaret
- Houlden, Henry
- Karimiani, Ehsan Ghayoor
- Zaki, Maha S.
- Haaf, Thomas
- Alkuraya, Fowzan S.
- Gleeson, Joseph G.
- Varshney, Gaurav K.
2021
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Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.657-667
2018
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American journal of human genetics, 2024-06, Vol.111 (6), p.1240-1240
- Mullegama, Sureni V.
- Kiernan, Kaitlyn A.
- Torti, Erin
- Pavlovsky, Ethan
- Tilton, Nicholas
- Sekula, Austin
- Gao, Hua
- Alaimo, Joseph T.
- Engleman, Kendra
- Rush, Eric T.
- Blocker, Karli
- Dipple, Katrina M.
- Fettig, Veronica M.
- Hare, Heather
- Glass, Ian
- Grange, Dorothy K.
- Griffin, Michael
- Phornphutkul, Chanika
- Massingham, Lauren
- Mehta, Lakshmi
- Miller, Danny E.
- Thies, Jenny
- Merritt, J Lawrence
- Muller, Eric
- Osmond, Matthew
- Sawyer, Sarah L.
- Slaugh, Rachel
- Hickey, Rachel E.
- Wolf, Barry
- Choudhary, Sanjeev
- Simonović, Miljan
- Zhang, Yueqing
- Palculict, Timothy Blake
- Telegrafi, Aida
- Carere, Deanna Alexis
- Wentzensen, Ingrid M.
- Morrow, Michelle M.
- Monaghan, Kristin G.
- Juusola, Jane
- Yang, Jun
2024
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