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GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Hum Mutat. 2009 May;30(5):724-33. doi: 10.1002/humu.20958.
Hum Mutat. 2009.
PMID: 19338053
Review.
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Wang Y, Busin R, Reeves C, Bezman L, Raymond G, Toomer CJ, Watkins PA, Snowden A, Moser A, Naidu S, Bibat G, Hewson S, Tam K, Clarke JT, Charnas L, Stetten G, Karczeski B, Cutting G, Steinberg S.
Wang Y, et al. Among authors: karczeski b.
Mol Genet Metab. 2011 Sep-Oct;104(1-2):160-6. doi: 10.1016/j.ymgme.2011.05.016. Epub 2011 Jun 22.
Mol Genet Metab. 2011.
PMID: 21700483
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Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.
Groman JD, Karczeski B, Sheridan M, Robinson TE, Fallin MD, Cutting GR.
Groman JD, et al. Among authors: karczeski b.
J Pediatr. 2005 May;146(5):675-80. doi: 10.1016/j.jpeds.2004.12.020.
J Pediatr. 2005.
PMID: 15870673
Free PMC article.
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Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.
Langfelder-Schwind E, Karczeski B, Strecker MN, Redman J, Sugarman EA, Zaleski C, Brown T, Keiles S, Powers A, Ghate S, Darrah R.
Langfelder-Schwind E, et al. Among authors: karczeski b.
J Genet Couns. 2014 Feb;23(1):5-15. doi: 10.1007/s10897-013-9636-9. Epub 2013 Sep 7.
J Genet Couns. 2014.
PMID: 24014130
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