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Results: 17

1.
F Weidemann, M Niemann, S Störk, F Breunig, M Beer, C Sommer, S Herrmann, G Ertl, C Wanner
J Intern Med. 2013 October; 274(4): 331–341. Published online 2013 May 6. doi: 10.1111/joim.12077
PMCID:
PMC4282332
2.
Kazuya Tsuboi, Hiroshi Yamamoto
Genet Med. 2012 September; 14(9): 779–786. Published online 2012 April 12. doi: 10.1038/gim.2012.39
PMCID:
PMC3908501
3.
Saskia M Rombach, Carla EM Hollak, Gabor E Linthorst, Marcel GW Dijkgraaf
Orphanet J Rare Dis. 2013; 8: 29. Published online 2013 February 19. doi: 10.1186/1750-1172-8-29
PMCID:
PMC3598841
4.
A. Pisani, L. Spinelli, B. Visciano, I. Capuano, M. Sabbatini, E. Riccio, G. Messalli, M. Imbriaco
JIMD Rep. 2013; 9: 41–48. Published online 2012 October 21. doi: 10.1007/8904_2012_177
PMCID:
PMC3565648
5.
Marcella A. Wozniak, Steven J. Kittner, Stanley Tuhrim, John W. Cole, Barney Stern, Mark Dobbins, Marie E. Grace, Irina Nazarenko, Robert Dobrovolny, Eric McDade, Robert J. Desnick
Stroke.
Published in final edited form as: Stroke. 2010 January; 41(1): 78–81. Published online 2009 December 10. doi: 10.1161/STROKEAHA.109.558320
PMCID:
PMC3564050
6.
Andreas Gal, Michael Beck, Bryan Winchester
Eur J Hum Genet. 2012 February; 20(2) Published online 2011 September 21. doi: 10.1038/ejhg.2011.178
PMCID:
PMC3260919
7.
Bouwien E Smid, Saskia M Rombach, Johannes MFG Aerts, Symen Kuiper, Mina Mirzaian, Hermen S Overkleeft, Ben JHM Poorthuis, Carla EM Hollak, Johanna EM Groener, Gabor E Linthorst
Orphanet J Rare Dis. 2011; 6: 69. Published online 2011 October 31. doi: 10.1186/1750-1172-6-69
PMCID:
PMC3219561
8.
Andreas Gal, Derralynn A. Hughes, Bryan Winchester
J Inherit Metab Dis. 2011 April; 34(2): 509–514. Published online 2011 January 13. doi: 10.1007/s10545-010-9261-9
PMCID:
PMC3063537
9.
P B Deegan, A F Baehner, M‐Á Barba Romero, D A Hughes, C Kampmann, M Beck
J Med Genet. 2006 April; 43(4): 347–352. Published online 2005 October 14. doi: 10.1136/jmg.2005.036327
PMCID:
PMC2563231
10.
Dominique P. Germain, Junaid Shabbeer, Sylvie Cotigny, Robert J. Desnick
Mol Med. 2002 June; 8(6): 306–312.
PMCID:
PMC2039995
11.
Raphael Schiffmann, Hasan Askari, Margaret Timmons, Chevalia Robinson, William Benko, Roscoe O. Brady, Markus Ries
J Am Soc Nephrol.
Published in final edited form as: J Am Soc Nephrol. 2007 May; 18(5): 1576–1583. Published online 2007 April 4. doi: 10.1681/ASN.2006111263
PMCID:
PMC1978101
12.
Anouk C. Vedder, Gabor E. Linthorst, Gunnar Houge, Johannna E.M. Groener, Els E. Ormel, Berto J. Bouma, Johannes M.F.G. Aerts, Asle Hirth, Carla E.M. Hollak
PLoS ONE. 2007; 2(7): e598. Published online 2007 July 11. doi: 10.1371/journal.pone.0000598
PMCID:
PMC1913555
13.
Andrea Sodi, Alexander S Ioannidis, Atul Mehta, Clare Davey, Michael Beck, Susanne Pitz
Br J Ophthalmol. 2007 February; 91(2): 210–214. Published online 2006 September 13. doi: 10.1136/bjo.2006.100602
PMCID:
PMC1857640
14.
B Hoffmann, d Garcia, A Mehta, M Beck, U Widmer, R Ricci, b on
J Med Genet. 2005 March; 42(3): 247–252. doi: 10.1136/jmg.2004.025791
PMCID:
PMC1736022
15.
K MacDermot, A Holmes, A Miners
J Med Genet. 2001 November; 38(11): 769–775. doi: 10.1136/jmg.38.11.769
PMCID:
PMC1734754
16.
Marco Spada, Severo Pagliardini, Makiko Yasuda, Turgut Tukel, Geetha Thiagarajan, Hitoshi Sakuraba, Alberto Ponzone, Robert J. Desnick
Am J Hum Genet. 2006 July; 79(1): 31–40. Published online 2006 April 28. doi: 10.1086/504601
PMCID:
PMC1474133
17.
Makiko Yasuda, Junaid Shabbeer, Makiko Osawa, Robert J. Desnick
Am J Hum Genet. 2003 July; 73(1): 162–173. Published online 2003 June 6. doi: 10.1086/376608
PMCID:
PMC1180577

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