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Chromosomal microarray testing identifies a 4p terminal region associated with seizures in Wolf-Hirschhorn syndrome.
J Med Genet. 2016 Apr;53(4):256-63. doi: 10.1136/jmedgenet-2015-103626. Epub 2016 Jan 8.
J Med Genet. 2016.
PMID: 26747863
Free PMC article.
Familial KANK1 deletion that does not follow expected imprinting pattern.
Vanzo RJ, Martin MM, Sdano MR, South ST.
Vanzo RJ, et al. Among authors: sdano mr.
Eur J Med Genet. 2013 May;56(5):256-9. doi: 10.1016/j.ejmg.2013.02.006. Epub 2013 Feb 27.
Eur J Med Genet. 2013.
PMID: 23454270
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Mosaic deletion of 20pter due to rescue by somatic recombination.
Martin MM, Vanzo RJ, Sdano MR, Baxter AL, South ST.
Martin MM, et al. Among authors: sdano mr.
Am J Med Genet A. 2016 Jan;170A(1):243-8. doi: 10.1002/ajmg.a.37407. Epub 2015 Oct 5.
Am J Med Genet A. 2016.
PMID: 26436922
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SNX8: A candidate gene for 7p22 cardiac malformations including tetralogy of fallot.
Vanzo RJ, Martin MM, Sdano MR, Teta K, Aggarwal V, South ST.
Vanzo RJ, et al. Among authors: sdano mr.
Am J Med Genet A. 2014 Feb;164A(2):554-6. doi: 10.1002/ajmg.a.36242. Epub 2013 Dec 5.
Am J Med Genet A. 2014.
PMID: 24311514
No abstract available.
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Correspondence regarding SNX8 haploinsufficiency and its potential for cardiac anomalies including tetralogy of Fallot.
Vanzo RJ, Martin MM, Sdano MR, Teta K, South ST.
Vanzo RJ, et al. Among authors: sdano mr.
Am J Med Genet A. 2014 Aug;164A(8):2136-7. doi: 10.1002/ajmg.a.36572. Epub 2014 Apr 14.
Am J Med Genet A. 2014.
PMID: 24733602
No abstract available.
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Clinical utility of chromosomal microarray analysis of DNA from buccal cells: detection of mosaicism in three patients.
Sdano MR, Vanzo RJ, Martin MM, Baldwin EE, South ST, Rope AF, Allen WP, Kearney H.
Sdano MR, et al.
J Genet Couns. 2014 Dec;23(6):922-7. doi: 10.1007/s10897-014-9751-2. Epub 2014 Aug 15.
J Genet Couns. 2014.
PMID: 25120037
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Public health genetic counselors: activities, skills, and sources of learning.
McWalter KM, Sdano MR, Dave G, Powell KP, Callanan N.
McWalter KM, et al. Among authors: sdano mr.
J Genet Couns. 2015 Jun;24(3):438-51. doi: 10.1007/s10897-014-9795-3. Epub 2014 Dec 5.
J Genet Couns. 2015.
PMID: 25475919
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