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Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome

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Year: 2013
Type: article
Study design: Observational Study
Source: European Journal of Medical Genetics
DOI: 10.1016/j.ejmg.2013.07.008
Authors: Kim Freriks, Henri J.L.M. Timmers, Romana T. Netea-Maier, Catharina C.M. Beerendonk, Barto J. Otten, Janiëlle A.E.M. van Alfen-van der Velden, Maaike A.F. Traas, Hanneke Mieloo, Guillaume W.H.J.F.L. van de Zande, Lies H. Hoefsloot, Ad R.M.M. Hermus, Dominique F.C.M. Smeets
Institution: Radboud University Medical Center
Language: English

Topic: Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences
SDG: Good health and well-being

Open Access status: green
OpenAlex ID: W2005171752
FWCI: 3.309
Cites: 28
Cited by: 59
Related to: 10
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