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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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Pediatrics international, 2012-10, Vol.54 (5), p.585-601
2012
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Journal Of Movement Disorders, 2022, 15(3), , pp.281-283
2022
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Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.189-189
2024
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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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Journal of inherited metabolic disease, 2021-07, Vol.44 (4), p.847-856
2021
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JPEN. Journal of parenteral and enteral nutrition, 2021-02, Vol.45 (2), p.230-238
2021
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Molecular genetics and metabolism, 2019-08, Vol.127 (4), p.336-345
- Diaz, George A.
- Schulze, Andreas
- Longo, Nicola
- Rhead, William
- Feigenbaum, Annette
- Wong, Derek
- Merritt, J. Lawrence
- Berquist, William
- Gallagher, Renata C.
- Bartholomew, Dennis
- McCandless, Shawn E.
- Smith, Wendy E.
- Harding, Cary O.
- Zori, Roberto
- Lichter-Konecki, Uta
- Vockley, Jerry
- Canavan, Colleen
- Vescio, Thomas
- Holt, Robert J.
- Berry, Susan A.
2019
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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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Molecular genetics and metabolism, 2015-09, Vol.116 (1-2), p.29-34
- Nagamani, Sandesh C S
- Diaz, George A
- Rhead, William
- Berry, Susan A
- Le Mons, Cynthia
- Lichter-Konecki, Uta
- Bartley, James
- Feigenbaum, Annette
- Schulze, Andreas
- Longo, Nicola
- Berquist, William
- Gallagher, Renata
- Bartholomew, Dennis
- Harding, Cary O
- Korson, Mark S
- McCandless, Shawn E
- Smith, Wendy
- Vockley, Jerry
- Kronn, David
- Zori, Robert
- Cederbaum, Stephen
- Merritt, 2nd, J Lawrence
- Wong, Derek
- Coakley, Dion F
- Scharschmidt, Bruce F
- Dickinson, Klara
- Marino, Miguel
- Lee, Brendan H
- Mokhtarani, Masoud
2015
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Pediatric nephrology (Berlin, West), 2012-09, Vol.27 (9), p.1453-1464
2012
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Pediatric neurology, 2014, Vol.50 (1), p.108-111
2014
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Genetics in medicine, 2015-07, Vol.17 (7), p.561-568
- Lee, Brendan
- Diaz, George A
- Rhead, William
- Lichter-Konecki, Uta
- Feigenbaum, Annette
- Berry, Susan A
- Le Mons, Cindy
- Bartley, James A
- Longo, Nicola
- Nagamani, Sandesh C
- Berquist, William
- Gallagher, Renata
- Bartholomew, Dennis
- Harding, Cary O
- Korson, Mark S
- McCandless, Shawn E
- Smith, Wendy
- Cederbaum, Stephen
- Wong, Derek
- Merritt, 2nd, J Lawrence
- Schulze, Andreas
- Vockley, Jerry
- Vockley, Gerard
- Kronn, David
- Zori, Roberto
- Summar, Marshall
- Milikien, Douglas A
- Marino, Miguel
- Coakley, Dion F
- Mokhtarani, Masoud
- Scharschmidt, Bruce F
2015
Link zum Volltext
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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Pediatrics international, 2013-12, Vol.55 (6), p.e156-e158
2013
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