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Items: 1 to 20 of 61

1.
W S Sly, D Hewett-Emmett, M P Whyte, Y S Yu, R E Tashian
Proc Natl Acad Sci U S A. 1983 May; 80(9): 2752–2756. doi: 10.1073/pnas.80.9.2752
PMCID:
PMC393906
2.
Luan Deives Rodrigues Leite, Kêmelly Karolliny Moreira Resende, Lídia dos Santos Rosa, Juliana Forte Mazzeu, Livia Claudio de Oliveira, Maria do Carmo Sorci Dias Scher, Ana Carolina Acevedo, Paulo Marcio Yamaguti
Intractable Rare Dis Res. 2023 Aug; 12(3): 202–205. doi: 10.5582/irdr.2023.01033
PMCID:
PMC10468405
3.
Yazan O. Al Zu'bi, Ahmed H. Al Sharie, Waed Dwairi, Eyad Altamimi
Radiol Case Rep. 2022 Mar; 17(3): 847–851. Published online 2022 Jan 6. doi: 10.1016/j.radcr.2021.12.004
PMCID:
PMC8753056
4.
Zikra Alkhayal, Zakia Shinwari, Ameera Gaafar, Ayodele Alaiya
Int J Mol Sci. 2021 Jan; 22(1): 380. Published online 2020 Dec 31. doi: 10.3390/ijms22010380
PMCID:
PMC7795265
5.
Taremekedzwa Allan Sanyanga, Bilal Nizami, Özlem Tastan Bishop
Molecules. 2019 Nov; 24(21): 3987. Published online 2019 Nov 4. doi: 10.3390/molecules24213987
PMCID:
PMC6864701
6.
Amit Kumar Satapathy, Swati Pandey, Madhumita Roy Chaudhary, Arvind Bagga, Madhulika Kabra, Kornak Uwe, Neerja Gupta
J Pediatr Genet. 2019 Jun; 8(2): 91–94. Published online 2018 Nov 18. doi: 10.1055/s-0038-1675781
PMCID:
PMC6499615
7.
Emanuela di Palmo, Marcella Gallucci, Elena Tronconi, Rosalba Bergamaschi, Salvatore Cazzato, Claudio La Scola, Giampaolo Ricci, Andrea Pession
Front Pediatr. 2018; 6: 213. Published online 2018 Jul 31. doi: 10.3389/fped.2018.00213
PMCID:
PMC6079206
8.
Aynaa Alsharidi, Mohammad Al-Hamed, Abdulkareem Alsuwaida
CEN Case Rep. 2016 May; 5(1): 108–112. Published online 2015 Dec 8. doi: 10.1007/s13730-015-0205-y
PMCID:
PMC5411668
9.
Omar N Alhuzaim, Ohoud M Almohareb, Safiya M Sherbeeni
Clin Med Insights Case Rep. 2015; 8: 7–10. Published online 2015 Feb 3. doi: 10.4137/CCRep.S16897
PMCID:
PMC4317082
10.
David S. Hains, Xi Chen, Vijay Saxena, Evan Barr-Beare, Weisi Flemming, Robert Easterling, Brian Becknell, George J. Schwartz, Andrew L. Schwaderer
Am J Physiol Renal Physiol. 2014 Oct 1; 307(7): F869–F880. Published online 2014 Aug 20. doi: 10.1152/ajprenal.00344.2014
PMCID:
PMC4187042
11.
P. Y. Hu, A. R. Ernst, W. S. Sly, P. J. Venta, L. A. Skaggs, R. E. Tashian
Am J Hum Genet. 1994 Apr; 54(4): 602–608.
PMCID:
PMC1918096
12.
V Sundaram, P Rumbolo, J Grubb, P Strisciuglio, W S Sly
Am J Hum Genet. 1986 Feb; 38(2): 125–136.
PMCID:
PMC1684750
14.
D E Roth, P J Venta, R E Tashian, W S Sly
Proc Natl Acad Sci U S A. 1992 Mar 1; 89(5): 1804–1808. doi: 10.1073/pnas.89.5.1804
PMCID:
PMC48541
15.
P J Venta, T B Shows, P J Curtis, R E Tashian
Proc Natl Acad Sci U S A. 1983 Jul; 80(14): 4437–4440. doi: 10.1073/pnas.80.14.4437
PMCID:
PMC384053
16.
Sian E. Piret, Caroline M. Gorvin, Anne Trinh, John Taylor, Stefano Lise, Jenny C. Taylor, Peter R. Ebeling, Rajesh V. Thakker
Am J Med Genet A. 2016 Nov; 170(11): 2988–2992. Published online 2016 Aug 19. doi: 10.1002/ajmg.a.37755
PMCID:
PMC5132132
17.
Nasir Mirza, Anthony G Marson, Munir Pirmohamed
Br J Clin Pharmacol. 2009 Nov; 68(5): 655–661. doi: 10.1111/j.1365-2125.2009.03521.x
PMCID:
PMC2791971
18.
K Borthwick, N Kandemir, R Topaloglu, U Kornak, A Bakkaloglu, N Yordam, S Ozen, H Mocan, G Shah, W Sly, F Karet
J Med Genet. 2003 Feb; 40(2): 115–121. doi: 10.1136/jmg.40.2.115
PMCID:
PMC1735376
19.
Ming-Jie Wu, Yan Jiang, Yong-Bin Yan
Int J Mol Sci. 2011; 12(5): 2797–2807. Published online 2011 Apr 28. doi: 10.3390/ijms12052797
PMCID:
PMC3116157
20.
Trairak Pisitkun, Rong-Fong Shen, Mark A. Knepper
Proc Natl Acad Sci U S A. 2004 Sep 7; 101(36): 13368–13373. Published online 2004 Aug 23. doi: 10.1073/pnas.0403453101
PMCID:
PMC516573

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