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Items: 1 to 20 of 328

1.
Kristina P. Cusmano‐Ozog, Alicia K. Renck, Christina G. Tise
JIMD Rep. 2022 Nov; 63(6): 563–567. Published online 2022 Oct 13. doi: 10.1002/jmd2.12328
PMCID:
PMC9626670
2.
Anasufiza Habib, Norashareena Mohamed Shakrin
Clin Pathol. 2022 Jan-Dec; 15: 2632010X221093274. Published online 2022 Apr 17. doi: 10.1177/2632010X221093274
PMCID:
PMC9019381
3.
Yue Huang, Rajesh Sharma, Annette Feigenbaum, Chung Lee, Inderneel Sahai, Rossana Sanchez Russo, Juanita Neira, Susan Sklower Brooks, Kelly E. Jackson, Derek Wong, Stephen Cederbaum, Felicitas L. Lacbawan, Charles M. Rowland, Pranoot Tanpaiboon, Denise Salazar
Mol Genet Metab Rep. 2021 Jun; 27: 100735. Published online 2021 Mar 3. doi: 10.1016/j.ymgmr.2021.100735
PMCID:
PMC7937551
4.
Sadanandavalli Retnaswami Chandra, Rita Christopher, Chakravarthula Nitin Ramanujam, Ganaraja Valakunja Harikrishna
J Pediatr Neurosci. 2019 Jan-Mar; 14(1): 2–6. doi: 10.4103/jpn.JPN_1_19
PMCID:
PMC6601119
5.
Moiz Bakhiet, Aminah M. I. AlAwadi, Maryam M. AlHammadi, Maryam F. Ali, Noora Butti
Medicine (Baltimore) 2018 May; 97(20): e10780. Published online 2018 May 18. doi: 10.1097/MD.0000000000010780
PMCID:
PMC5976310
6.
Fernando Scaglia, Brendan Lee
Am J Med Genet C Semin Med Genet.
Published in final edited form as: Am J Med Genet C Semin Med Genet. 2006 May 15; 0(2): 113–120. doi: 10.1002/ajmg.c.30091
PMCID:
PMC4052756
7.
Yuan Yan Sin, Laurel L. Ballantyne, Kamalika Mukherjee, Tim St. Amand, Lianna Kyriakopoulou, Andreas Schulze, Colin D. Funk
PLoS One. 2013; 8(11): e80001. Published online 2013 Nov 4. doi: 10.1371/journal.pone.0080001
PMCID:
PMC3817112
8.
Y. Haimi Cohen, R. Bargal, M. Zeigler, T. Markus-Eidlitz, V. Zuri, A. Zeharia
JIMD Rep. 2012; 5: 83–88. Published online 2011 Dec 21. doi: 10.1007/8904_2011_101
PMCID:
PMC3509907
9.
A F Van Elsen, J G Leroy
Am J Hum Genet. 1977 Jul; 29(4): 350–355.
PMCID:
PMC1685390
10.
W W Grody, C Argyle, R M Kern, G J Dizikes, E B Spector, A D Strickland, D Klein, S D Cederbaum
J Clin Invest. 1989 Feb; 83(2): 602–609. doi: 10.1172/JCI113923
PMCID:
PMC303720
11.
George A. Diaz, Andreas Schulze, Markey C. McNutt, Elisa Leão‐Teles, J. Lawrence Merritt, II, Gregory M. Enns, Spyros Batzios, Allison Bannick, Roberto T. Zori, Leslie S. Sloan, Susan L. Potts, Gillian Bubb, Anthony G. Quinn
J Inherit Metab Dis. 2021 Jul; 44(4): 847–856. Published online 2021 Jan 26. doi: 10.1002/jimd.12343
PMCID:
PMC8359196
12.
Dongqing Cui, Yanxia Liu, Liang Jin, Liping Hu, Lili Cao
Medicine (Baltimore) 2020 Aug 7; 99(32): e21634. Published online 2020 Aug 7. doi: 10.1097/MD.0000000000021634
PMCID:
PMC7593080
13.
Giovanni Smaldone, Alessia Ruggiero, Nicole Balasco, Luigi Vitagliano
Int J Mol Sci. 2020 Oct; 21(20): 7503. Published online 2020 Oct 12. doi: 10.3390/ijms21207503
PMCID:
PMC7589609
14.
Svetlana Nikolaeva, Camille Ansermet, Gabriel Centeno, Sylvain Pradervand, Vincent Bize, David Mordasini, Hugues Henry, Robert Koesters, Marc Maillard, Olivier Bonny, Natsuko Tokonami, Dmitri Firsov
J Am Soc Nephrol. 2016 Oct; 27(10): 2997–3004. Published online 2016 Apr 7. doi: 10.1681/ASN.2015091055
PMCID:
PMC5042670
15.
Laurel L. Ballantyne, Yuan Yan Sin, Tim St. Amand, Joshua Si, Steven Goossens, Lieven Haenebalcke, Jody J. Haigh, Lianna Kyriakopoulou, Andreas Schulze, Colin D. Funk
PLoS One. 2015; 10(5): e0125967. Published online 2015 May 4. doi: 10.1371/journal.pone.0125967
PMCID:
PMC4418594
16.
Eun K. Lee, Chuhong Hu, Ragini Bhargava, Nora Rozengurt, David Stout, Wayne W Grody, Stephen D Cederbaum, Gerald S Lipshutz
Mol Ther. 2012 Oct; 20(10): 1844–1851. Published online 2012 Jul 3. doi: 10.1038/mt.2012.129
PMCID:
PMC3464644
17.
Philip A. Romero, Everett Stone, Candice Lamb, Lynne Chantranupong, Andreas Krause, Alex Miklos, Randall A. Hughes, Blake Fechtel, Andrew D. Ellington, Frances H. Arnold, George Georgiou
ACS Synth Biol.
Published in final edited form as: ACS Synth Biol. 2012 Jun 15; 1(6): 221–228. Published online 2012 Mar 30. doi: 10.1021/sb300014t
PMCID:
PMC3378063
18.
Wayne W. Grody, Deborah Klein, Amy E. Dodson, Rita M. Kern, Paul B. Wissmann, Barbara K. Goodman, Patrick Bassand, Bert Marescau, Soo-Sang Kang, James V. Leonard, Stephen D. Cederbaum
Am J Hum Genet. 1992 Jun; 50(6): 1281–1290.
PMCID:
PMC1682550
19.
George A. Diaz, Mark Bechter, Stephen D. Cederbaum
J Inherit Metab Dis. 2023 Jan; 46(1): 3–14. Published online 2022 Oct 13. doi: 10.1002/jimd.12564
PMCID:
PMC10091968
20.
C. Catsburg, S. Anderson, N. Upadhyaya, M. Bechter
Orphanet J Rare Dis. 2022; 17: 94. Published online 2022 Mar 2. doi: 10.1186/s13023-022-02226-8
PMCID:
PMC8889696

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