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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 3 |
2013 | 2 |
2014 | 1 |
2015 | 1 |
2017 | 1 |
2018 | 1 |
2024 | 0 |
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Page 1
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes.
J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5.
J Med Genet. 2015.
PMID: 25480986
Free PMC article.
Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.
Ahmed ZM, Jaworek TJ, Sarangdhar GN, Zheng L, Gul K, Khan SN, Friedman TB, Sisk RA, Bartles JR, Riazuddin S, Riazuddin S.
Ahmed ZM, et al. Among authors: jaworek tj.
J Med Genet. 2018 Jul;55(7):479-488. doi: 10.1136/jmedgenet-2017-105221. Epub 2018 Mar 23.
J Med Genet. 2018.
PMID: 29572253
Free PMC article.
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Familial Hypercholesterolemia and Type 2 Diabetes in the Old Order Amish.
Xu H, Ryan KA, Jaworek TJ, Southam L, Reid JG, Overton JD, Baras A, Puurunen MK, Zeggini E, Taylor SI, Shuldiner AR, Mitchell BD.
Xu H, et al. Among authors: jaworek tj.
Diabetes. 2017 Jul;66(7):2054-2058. doi: 10.2337/db17-0173. Epub 2017 Apr 20.
Diabetes. 2017.
PMID: 28428224
Free PMC article.
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USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.
Jaworek TJ, Bhatti R, Latief N, Khan SN, Riazuddin S, Ahmed ZM.
Jaworek TJ, et al.
J Hum Genet. 2012 Oct;57(10):633-7. doi: 10.1038/jhg.2012.79. Epub 2012 Jun 21.
J Hum Genet. 2012.
PMID: 22718019
Free PMC article.
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Genetic studies of TYRP1 and SLC45A2 in Pakistani patients with nonsyndromic oculocutaneous albinism.
Kausar T, Jaworek TJ, Tariq N, Sadia S, Ali M, Shaikh RS, Ahmed ZM.
Kausar T, et al. Among authors: jaworek tj.
J Invest Dermatol. 2013 Apr;133(4):1099-102. doi: 10.1038/jid.2012.432. Epub 2012 Nov 29.
J Invest Dermatol. 2013.
PMID: 23190901
Free article.
No abstract available.
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An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans.
Jaworek TJ, Richard EM, Ivanova AA, Giese AP, Choo DI, Khan SN, Riazuddin S, Kahn RA, Riazuddin S.
Jaworek TJ, et al.
PLoS Genet. 2013;9(9):e1003774. doi: 10.1371/journal.pgen.1003774. Epub 2013 Sep 5.
PLoS Genet. 2013.
PMID: 24039609
Free PMC article.
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Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.
Jaworek TJ, Kausar T, Bell SM, Tariq N, Maqsood MI, Sohail A, Ali M, Iqbal F, Rasool S, Riazuddin S, Shaikh RS, Ahmed ZM.
Jaworek TJ, et al.
Orphanet J Rare Dis. 2012 Jun 26;7:44. doi: 10.1186/1750-1172-7-44.
Orphanet J Rare Dis. 2012.
PMID: 22734612
Free PMC article.
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