CARLOS BACINO to DNA Mutational Analysis
This is a "connection" page, showing publications CARLOS BACINO has written about DNA Mutational Analysis.
Connection Strength
0.202
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Molecular characterization of a balanced rearrangement of chromosome 12 in two siblings with Noonan syndrome. Am J Med Genet A. 2009 Dec; 149A(12):2723-30.
Score: 0.072
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Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness. Pharmacogenetics. 1995 Jun; 5(3):165-72.
Score: 0.026
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Whole-exome sequencing reveals GPIHBP1 mutations in infantile colitis with severe hypertriglyceridemia. J Pediatr Gastroenterol Nutr. 2014 Jul; 59(1):17-21.
Score: 0.025
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Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. Hum Mutat. 2013 Jan; 34(1):97-102.
Score: 0.022
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Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Oct; 81(4):713-25.
Score: 0.015
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Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006 Jul; 27(7):705-10.
Score: 0.014
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Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
Score: 0.014
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ATR-16 due to a de novo complex rearrangement of chromosome 16. Hemoglobin. 2005; 29(2):141-50.
Score: 0.013