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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...Pediatrics international, 2012-10, Vol.54 (5), p.585-601
2012
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Orphanet journal of rare diseases, 2024-05, Vol.19 (1), p.189-189, Article 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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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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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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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, J. Lawrence
- Schulze, Andreas
- Vockley, Gerard
- Kronn, David
- Zori, Roberto
- Summar, Marshall
- Milikien, Douglas A.
- Marino, Miguel
- Coakley, Dion F.
- Mokhtarani, Masoud
- Scharschmidt, Bruce F.
2015
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American journal of medical genetics. Part A, 2007-03, Vol.143A (6), p.599-603
2007
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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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Scientific reports, 2020-07, Vol.10 (1), p.11948-11948, Article 11948
2020
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Journal of inherited metabolic disease, 2019-03, Vol.42 (2), p.243-253
- Buerger, Corinna
- Garbade, Sven F.
- Dietrich Alber, Fabienne
- Waisbren, Susan E.
- McCarter, Robert
- Kölker, Stefan
- Burgard, Peter
- Ah Mew, Nicholas
- Batshaw, Mark L.
- Baumgartner, Matthias R.
- Berry, Susan A.
- Coughlin, Curtis
- Cederbaum, Stephen
- Diaz, George A.
- Feigenbaum, Annette
- Gallagher, Renata C.
- Harding, Cary O.
- Hoffmann, Georg
- Kerr, Douglas S.
- Lee, Brendan
- Le Mons, Cynthia
- Lichter‐Konecki, Uta
- McCandless, Shawn E.
- Lawrence Merritt, J.
- Nagamani, Sandesh CS
- Schulze, Andreas
- Seashore, Margretta R.
- Stricker, Tamar
- Summar, Marshall L.
- Tuchman, Mendel
- Waisbren, Susan
- Weisfeld‐Adams, James
- Wong, Derek
- Yudkoff, Marc
2019
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American journal of human genetics, 2020-04, Vol.106 (4), p.570-583
- Mao, Dongxue
- Reuter, Chloe M.
- Farrow, Emily G.
- Rosenfeld, Jill A.
- Mackenzie, Katherine M.
- Küry, Sébastien
- Genetti, Casie A.
- Alejandro, Mercedes
- Agrawal, Pankaj B.
- Alvey, Justin
- Ashley, Euan A.
- Balasubramanyam, Ashok
- Beck, Anita
- Bellen, Hugo J.
- Berg-Rood, Beverly
- Bernier, Raphael
- Bivona, Stephanie
- Bohnsack, John
- Briere, Lauren C.
- Burke, Elizabeth A.
- Butte, Manish J.
- Carrasquillo, Olveen
- Cogan, Joy D.
- Cole, F. Sessions
- Colley, Heather A.
- Cooper, Cynthia M.
- Craigen, William J.
- Cunningham, Michael
- Dasari, Surendra
- Dayal, Jyoti G.
- Dhar, Shweta U.
- Emrick, Lisa T.
- Estwick, Tyra
- Ferreira, Carlos
- Fieg, Elizabeth L.
- Fogel, Brent L.
- Forghani, Irman
- Gahl, William A.
- Godfrey, Rena A.
- Goldman, Alica M.
- Hahn, Sihoun
- Hanchard, Neil A.
- Hing, Anne
- Holm, Ingrid A.
- Huang, Yong
- Jamal, Fariha
- Jayadev, Suman
- Karaviti, Lefkothea
- Kelley, Emily G.
- Kohane, Isaac S.
- Kohler, Jennefer N.
- Krakow, Deborah
- Korrick, Susan
- Koziura, Mary
- Krier, Joel B.
- Lam, Byron
- Lanpher, Brendan C.
- Lanza, Ian R.
- Lee, Brendan H.
- Lewis, Richard A.
- Loo, Sandra K.
- Majcherska, Marta M.
- Malicdan, May Christine V.
- Mamounas, Laura A.
- Markello, Thomas C.
- Martin, Martin G.
- Martínez-Agosto, Julian A.
- McCormack, Colleen E.
- Merritt, J. Lawrence
- Moretti, Paolo M.
- Mulvihill, John J.
- Murdock, David R.
- Nickerson, Deborah
- Pallais, J. Carl
- Posey, Jennifer E.
- Potocki, Lorraine
- Raja, Archana N.
- Renteria, Genecee
- Samson, Susan L.
- Schedl, Timothy
- Shakachite, Lisa
- Signer, Rebecca
- Silverman, Edwin K.
- Sybert, Virginia
- Tekin, Mustafa
- Thorson, Willa
- Tran, Alyssa A.
- Urv, Tiina K.
- Wahl, Colleen E.
- Wegner, Daniel
- Wheeler, Matthew T.
- Yamamoto, Shinya
- Yang, John
- Yoon, Amanda J.
- Yu, Guoyun
- Zastrow, Diane B.
- Zhao, Chunli
- Bernstein, Jonathan A.
- Chao, Hsiao-Tuan
2020
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Pediatric neurology, 2024-11, Vol.160, p.45-53
- Mignot, Cyril
- Littlejohn, Rebecca O.
- Bademci, Guney
- Balasubramanyam, Ashok
- Beck, Anita
- Berg-Rood, Beverly
- Berry, Gerard T.
- Bican, Anna
- Bohnsack, John
- Bonner, Devon
- Botto, Lorenzo
- Butte, Manish J.
- Peter Chang, Ta Chen
- D'Souza, Precilla
- Dasari, Surendra
- Dayal, Jyoti G.
- Dell'Angelica, Esteban C.
- Dorrani, Naghmeh
- Doss, Argenia L.
- Douine, Emilie D.
- Earl, Dawn
- Falk, Marni
- Fieg, Elizabeth L.
- Fisher, Paul G.
- Gahl, William A.
- Goddard, Page C.
- Golden-Grant, Katie
- Grajewski, Alana
- Hadley, Don
- Hahn, Sihoun
- Halley, Meghan C.
- High, Frances
- Hing, Anne
- Hisama, Fuki M.
- Holm, Ingrid A.
- Hutchison, Sarah
- Izumi, Kosuke
- Jarvik, Gail P.
- Jayadev, Suman
- Jean-Marie, Orpa
- Kennedy, Jennifer
- Ketkar, Shamika
- Kohane, Isaac S.
- Kohler, Jennefer N.
- Lam, Byron
- Lam, Christina
- Lanpher, Brendan C.
- Lanza, Ian R.
- Levitt, Roy
- Liu, Pengfei
- Longo, Nicola
- Loscalzo, Joseph
- Macnamara, Ellen F.
- Maduro, Valerie V.
- Manolio, Teri A.
- Marth, Gabor
- Martin, Beth A.
- Marwaha, Shruti
- McConkie-Rosell, Allyn
- McCray, Alexa T.
- Morava, Eva
- Nakano-Okuno, Mariko
- Newman, John H.
- Nickerson, Deborah
- Oglesbee, Devin
- Pallais, J. Carl
- Phillips, John A.
- Rosenwasser, Natalie
- Schedl, Timothy
- Shashi, Vandana
- Sisco, Kathy
- Solem, Emily
- Solnica-Krezel, Lilianna
- Solomon, Ben
- Sullivan, Jennifer A.
- Sweetser, David A.
- Sybert, Virginia
- Tekin, Mustafa
- Telischi, Fred
- Tran, Alyssa A.
- Ungar, Rachel A.
- Vanderver, Adeline
- Velinder, Matt
- Viskochil, Dave
- Wallace, Stephanie
- Walley, Nicole M.
- Wambach, Jennifer
- Wan, Jijun
- Ward, Patricia A.
- Hubshman, Monika Weisz
- Wenger, Tara
- Westerfield, Monte
- Wolfe, Lynne A.
- Worley, Kim
- Xiao, Changrui
- Sarret, Catherine
- Platzer, Konrad
- Fischer, Susann
- Granadillo, Jorge L.
- Schreiner, Elisabeth
2024
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Molecular genetics and metabolism, 2014-09, Vol.113 (1-2), p.131-135
2014
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Annals of neurology, 2019-07, Vol.86 (1), p.116-128
- Posset, Roland
- Gropman, Andrea L.
- Nagamani, Sandesh C. S.
- Burrage, Lindsay C.
- Bedoyan, Jirair K.
- Wong, Derek
- Berry, Gerard T.
- Baumgartner, Matthias R.
- Yudkoff, Marc
- Zielonka, Matthias
- Hoffmann, Georg F.
- Burgard, Peter
- Schulze, Andreas
- McCandless, Shawn E.
- Garcia‐Cazorla, Angeles
- Seminara, Jennifer
- Garbade, Sven F.
- Kölker, Stefan
- Lee, Brendan
- Harding, Cary O.
- Coughlin, Curtis R.
- Le Mons, Cynthia
- Dobbelaere, Dries
- Leão Teles, Elisa
- Cortès‐Saladelafont, Elisenda
- Gleich, Florian
- Eyskens, Francois
- Enns, Gregory
- Wilkening, Greta N.
- Barić, Ivo
- Lawrence Merritt, J.
- Heringer, Jana
- Blasco‐Alonso, Javier
- Zeman, Jiri
- Häberle, Johannes
- Sykut‐Cegielska, Jolanta
- Djordjevic, Maja
- Batshaw, Mark L.
- Summar, Marshall
- Freisinger, Peter
- Gallagher, Renata C.
- Berry, Susan A.
- Waisbren, Susan
- Stricker, Tamar
2019
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The Journal of pediatrics, 2013-02, Vol.162 (2), p.324-329.e1
2013
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The Journal of pediatrics, 1994-07, Vol.125 (1), p.43-50
1994
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