RICHARD GIBBS to Chromosome Deletion
This is a "connection" page, showing publications RICHARD GIBBS has written about Chromosome Deletion.
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0.359
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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83.
Score: 0.093
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Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics. 1990 Jun; 7(2):235-44.
Score: 0.069
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Deletion screening at the hypoxanthine-guanine phosphoribosyltransferase locus in Chinese hamster cells using the polymerase chain reaction. Teratog Carcinog Mutagen. 1989; 9(3):177-87.
Score: 0.062
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Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twins. Am J Med Genet A. 2017 Sep; 173(9):2451-2455.
Score: 0.028
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The somatic genomic landscape of chromophobe renal cell carcinoma. Cancer Cell. 2014 Sep 08; 26(3):319-330.
Score: 0.023
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PCR test for cystic fibrosis deletion. Nature. 1990 Jan 18; 343(6255):220.
Score: 0.017
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Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res. 1988 Dec 09; 16(23):11141-56.
Score: 0.016
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Characterizing the cancer genome in lung adenocarcinoma. Nature. 2007 Dec 06; 450(7171):893-8.
Score: 0.014
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Identification and localization of mutations at the Lesch-Nyhan locus by ribonuclease A cleavage. Science. 1987 Apr 17; 236(4799):303-5.
Score: 0.014
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Molecular characterization of 125I decay and X-ray-induced HPRT mutants in CHO cells. Int J Radiat Biol Relat Stud Phys Chem Med. 1987 Feb; 51(2):193-9.
Score: 0.014
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A transposon-like element in the deletion-prone region of the dystrophin gene. Genomics. 1992 Jul; 13(3):594-600.
Score: 0.005
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Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome. Trans Assoc Am Physicians. 1989; 102:185-94.
Score: 0.004