Eden Haverfield to Mutation
This is a "connection" page, showing publications Eden Haverfield has written about Mutation.
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Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death. Pediatr Dev Pathol. 2015 Jul-Aug; 18(4):324-6.
Score: 0.059
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Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. Am J Med Genet A. 2016 07; 170(7):1791-8.
Score: 0.016
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FTO variant associated with malformation syndrome. Am J Med Genet A. 2016 Apr; 170A(4):1023-8.
Score: 0.016
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Clinical application of whole-exome sequencing across clinical indications. Genet Med. 2016 07; 18(7):696-704.
Score: 0.015
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Molecular confirmation of nine cases of Cornelia de Lange syndrome diagnosed prenatally. Prenat Diagn. 2014 Feb; 34(2):163-7.
Score: 0.013
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SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009 Nov; 30(11):1535-42.
Score: 0.010