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ellen welch[Author]
(40 results)?
Historical and Clinical Perspectives on Chromosomal Translocations.
Adv Exp Med Biol. 2018;1044:1-14. doi: 10.1007/978-981-13-0593-1_1.
Adv Exp Med Biol. 2018.
PMID: 29956287
Review.
Mitochondrial haplogroups and lifespan in a population isolate.
Bonner J, Fisher R, Wilch E, Schutte D, Schutte B.
Bonner J, et al. Among authors: wilch e.
Mitochondrion. 2020 Mar;51:62-67. doi: 10.1016/j.mito.2019.12.004. Epub 2019 Dec 27.
Mitochondrion. 2020.
PMID: 31887371
Free PMC article.
Item in Clipboard
SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.
Schilit SLP, Menon S, Friedrich C, Kammin T, Wilch E, Hanscom C, Jiang S, Kliesch S, Talkowski ME, Tüttelmann F, MacQueen AJ, Morton CC.
Schilit SLP, et al. Among authors: wilch e.
Am J Hum Genet. 2020 Jan 2;106(1):41-57. doi: 10.1016/j.ajhg.2019.11.013. Epub 2019 Dec 19.
Am J Hum Genet. 2020.
PMID: 31866047
Free PMC article.
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Challenges and solutions for gene identification in the presence of familial locus heterogeneity.
Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, Shearer AE, Smith RJ, Shendure J, Bamshad MJ, Nickerson DA; University of Washington Center for Mendelian Genomics; Hinnant J, Khan SN, Fisher RA, Ahmad W, Friderici KH, Riazuddin S, Friedman TB, Wilch ES, Leal SM.
Rehman AU, et al. Among authors: wilch es.
Eur J Hum Genet. 2015 Sep;23(9):1207-15. doi: 10.1038/ejhg.2014.266. Epub 2014 Dec 10.
Eur J Hum Genet. 2015.
PMID: 25491636
Free PMC article.
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Expression of GJB2 and GJB6 is reduced in a novel DFNB1 allele.
Wilch E, Zhu M, Burkhart KB, Regier M, Elfenbein JL, Fisher RA, Friderici KH.
Wilch E, et al.
Am J Hum Genet. 2006 Jul;79(1):174-9. doi: 10.1086/505333. Epub 2006 May 17.
Am J Hum Genet. 2006.
PMID: 16773579
Free PMC article.
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Pedigree structure and kinship measurements of a mid-Michigan community: a new North American population isolate identified.
Bonner JD, Fisher R, Klein J, Lu Q, Wilch E, Friderici KH, Elfenbein JL, Schutte DL, Schutte BC.
Bonner JD, et al. Among authors: wilch e.
Hum Biol. 2014 Winter;86(1):59-68. doi: 10.3378/027.086.0103.
Hum Biol. 2014.
PMID: 25401987
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