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Skeletal abnormalities of the upper limbs--neonatal diagnosis of 49,XXXXY syndrome.
Gene. 2012 Oct 15;508(1):117-20. doi: 10.1016/j.gene.2012.07.053.
Gene. 2012.
PMID: 22980072
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.
Schneider E, Märker T, Daser A, Frey-Mahn G, Beyer V, Farcas R, Schneider-Rätzke B, Kohlschmidt N, Grossmann B, Bauss K, Napiontek U, Keilmann A, Bartsch O, Zechner U, Wolfrum U, Haaf T.
Schneider E, et al. Among authors: frey mahn g.
Hum Mol Genet. 2009 Feb 15;18(4):655-66. doi: 10.1093/hmg/ddn395. Epub 2008 Nov 20.
Hum Mol Genet. 2009.
PMID: 19028668
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Unbalanced translocation 6p/16q (partial monosomy 6p and trisomy 16q): prenatal diagnosis and cytogenetics.
Puhl AG, Zelazny J, Galetzka D, Skala C, Frey-Mahn G, Wellek B, Koelbl H.
Puhl AG, et al. Among authors: frey mahn g.
Eur J Obstet Gynecol Reprod Biol. 2010 Jun;150(2):119-25. doi: 10.1016/j.ejogrb.2010.02.034. Epub 2010 Mar 7.
Eur J Obstet Gynecol Reprod Biol. 2010.
PMID: 20211513
Review.
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Y chromosomal polysomy: a unique case of 49,XYYYY in amniotic fluid cells.
Frey-Mahn G, Behrendt G, Geiger K, Sohn C, Schäfer D, Miny P.
Frey-Mahn G, et al.
Am J Med Genet A. 2003 Apr 15;118A(2):184-6. doi: 10.1002/ajmg.a.10051.
Am J Med Genet A. 2003.
PMID: 12655500
Review.
No abstract available.
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