PAWEL STANKIEWICZ to Chromosomes, Human, X
This is a "connection" page, showing publications PAWEL STANKIEWICZ has written about Chromosomes, Human, X.
Connection Strength
0.792
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Minimal phenotype in a girl with trisomy 15q due to t(X;15)(q22.3;q11.2) translocation. Am J Med Genet A. 2006 Mar 01; 140(5):442-52.
Score: 0.224
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Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia. Am J Med Genet A. 2005 Sep 15; 138(1):11-7.
Score: 0.217
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Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions. J Med Genet. 2011 Dec; 48(12):840-50.
Score: 0.083
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Microduplication of Xp11.23p11.3 with effects on cognition, behavior, and craniofacial development. Clin Genet. 2011 Jun; 79(6):531-8.
Score: 0.081
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Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females. Genet Med. 2011 May; 13(5):447-52.
Score: 0.080
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88.
Score: 0.079
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Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Hum Mol Genet. 2015 Dec 20; 24(25):7171-81.
Score: 0.027