학술논문
'학술논문'
에서 검색결과 171건 | 목록
1~10
Academic Journal
Christ, S.E.; Arnold, G.; Lichter-Konecki, U.; Berry, G.T.; Levy, H.; Sacharow, S.; Grange, D.K.; Harding, C.O.; Morotti, H.; Jurecki, E.; Longo, N.; Thomas, J.; White, D.A.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, 1 September 2024, 143(1-2))
Academic Journal
In: Journal of Pediatric Endocrinology and Metabolism . (Journal of Pediatric Endocrinology and Metabolism, 1 April 2024, 37(4):371-374)
Academic Journal
Lichter-Konecki, U.; Bedoyan, J.K.; Sanz, J.H.; Ah Mew, N.; Gropman, A.; McCarter, R.; Seminara, J.; Baumgartner, M.R.; Stricker, T.; Berry, G.; Waisbren, S.; Berry, S.A.; Burgard, P.; Hoffmann, G.F.; Burrage, L.; Nagamani, S.C.S.; Coughlin, C.; McCandless, S.E.; Diaz, G.A.; Enns, G.; Gallagher, R.C.; Harding, C.O.; Le Mons, C.; Merritt, J.L.; Schulze, A.; Wong, D.; Yudkoff, M.
In: Pediatric Research . (Pediatric Research, December 2023, 94(6):2005-2015)
Academic Journal
Murali, C.N.; Burrage, L.C.; Nagamani, S.C.S.; Barber, J.R.; McCarter, R.; Zhang, A.; Simpson, K.; Gallant, N.; Dorrani, N.; Wilkening, G.N.; Hays, R.D.; Lichter-Konecki, U.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, November 2023, 140(3))
Academic Journal
Ames, E.G.; Ahmad, A.; Powell, C.; Engen, R.M.; Weaver, D.J.; Mansuri, A.; Rheault, M.N.; Sanderson, K.; Lichter-Konecki, U.; Daga, A.; Burrage, L.C.; Wenderfer, S.E.; Luckritz, K.E.
In: Journal of Pediatrics . (Journal of Pediatrics, July 2022, 246:116-122.e1)
Academic Journal
Priestley, J.R.C.; Menello, C.; Engelhardt, N.M.; Diboscio, B.; Ahrens-Nicklas, R.C.; Edmondson, A.C.; Santos, F.J.R.; Ficicioglu, C.; Adang, L.A.; Williams, S.D.; Lichter-Konecki, U.; Diperna, J.C.
In: International Journal of Neonatal Screening . (International Journal of Neonatal Screening, June 2022, 8(2))
Academic Journal
Lopes Abath Neto, O.; Donkervoort, S.; Bolduc, V.; Hu, Y.; Guadagnin, E.; Foley, A.R.; Bönnemann, C.G.; Medne, L.; Banwell, B.; Rodríguez-García, M.E.; Cotrina-Vinagre, F.J.; Martínez-Azorín, F.; Martin-Hernández, E.; Brandsema, J.F.; Glanzman, A.M.; Tennekoon, G.I.; Santi, M.; Berger, J.H.; Lin, K.; Megeney, L.A.; Komaki, H.; Inoue, M.; Nishino, I.; Hernández-Lain, A.; Williams, L.; Lichter-Konecki, U.; Borell, S.; Schorling, D.; Kirschner, J.; Kolokotronis, K.; Burgon, P.G.
In: Brain . (Brain, 1 September 2021, 144(9):2722-2731)
Academic Journal
Wortmann, S.B.; Feichtinger, R.G.; Mayr, J.A.; Wevers, R.A.; Ziętkiewicz, S.; Mróz, D.; Wyszkowski, H.; Guerrero-Castillo, S.; Gersting, S.; Wagner, M.; Russell, J.; Ellaway, C.; Christodoulou, J.; Weis, D.; Hannibal, I.; von Stülpnagel, C.; Cabrera-Orefice, A.; Venselaar, H.; Lichter-Konecki, U.; Gaesser, J.; Windreich, R.; Myers, K.C.; Lorsbach, R.; Prada, C.E.; Dale, R.C.; Wolf, N.I.
In: Genetics in Medicine . (Genetics in Medicine, September 2021, 23(9):1705-1714)
Academic Journal
Longo, N.; Diaz, G.A.; Lichter-Konecki, U.; Schulze, A.; Inbar-Feigenberg, M.; Conway, R.L.; Bannick, A.A.; McCandless, S.E.; Zori, R.; Hainline, B.; Ah Mew, N.; Canavan, C.; Vescio, T.; Kok, T.; Porter, M.H.; Berry, S.A.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, January 2021, 132(1):19-26)
Academic Journal
Koppes, E.A.; Johnson, M.A.; Ghaloul-Gonzalez, L.; Yates, M.E.; Leshinski, A.; Lichter-Konecki, U.; Vockley, J.; Nicholls, R.D.; Redel, B.K.; Spate, L.D.; Samuel, M.S.; Walters, E.M.; Wells, K.D.; Prather, R.S.; Benne, J.A.; Murphy, S.L.; Skvorak, K.J.; Newsome, J.T.; Dobrowolski, S.F.; Lewis, D.W.; Gollin, S.M.; Wu, Y.L.; Christ, S.E.; Yerle, M.; Hansen, S.A.; Wagner, R.A.
In: JCI Insight . (JCI Insight, 15 October 2020, 5(20))
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[AR] Lichter-Konecki, U.
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