PAWEL STANKIEWICZ to Cytogenetic Analysis
This is a "connection" page, showing publications PAWEL STANKIEWICZ has written about Cytogenetic Analysis.
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0.299
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Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era? Genet Med. 2013 Jun; 15(6):450-7.
Score: 0.094
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Clinical improvement of the aggressive neurobehavioral phenotype in a patient with a deletion of PITX3 and the absence of L-DOPA in the cerebrospinal fluid. Am J Med Genet B Neuropsychiatr Genet. 2012 Mar; 159B(2):236-42.
Score: 0.088
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Kabuki syndrome-like features associated with a small ring chromosome X and XIST gene expression. Am J Med Genet. 2001 Aug 15; 102(3):286-92.
Score: 0.043
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De novo three-way chromosome translocation 46,XY,t(4;6;21)(p16;p21.1;q21) in a male with cleidocranial dysplasia. Am J Med Genet A. 2008 Feb 15; 146A(4):453-8.
Score: 0.017
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Complex balanced translocation t(1;5;7)(p32.1;q14.3;p21.3) and two microdeletions del(1)(p31.1p31.1) and del(7)(p14.1p14.1) in a patient with features of Greig cephalopolysyndactyly and mental retardation. Am J Med Genet A. 2007 Nov 15; 143A(22):2738-43.
Score: 0.017
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Development and validation of a CGH microarray for clinical cytogenetic diagnosis. Genet Med. 2005 Jul-Aug; 7(6):422-32.
Score: 0.014
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Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clin Genet. 2004 Aug; 66(2):128-36.
Score: 0.013
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Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. Genet Med. 2003 Nov-Dec; 5(6):430-4.
Score: 0.013