Darrel J. Waggoner to Adult
This is a "connection" page, showing publications Darrel J. Waggoner has written about Adult.
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Internet resources in medical genetics. Curr Protoc Hum Genet. 2009 Jul; Chapter 9:Unit 9.12.
Score: 0.019
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Chondrodysplasia punctata associated with malabsorption from bariatric procedures. Surg Obes Relat Dis. 2010 Jan-Feb; 6(1):99-101.
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Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13. Am J Med Genet A. 2008 Jun 01; 146A(11):1414-22.
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Clinic-based study of plexiform neurofibromas in neurofibromatosis 1. Am J Med Genet. 2000 May 15; 92(2):132-5.
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Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med. 2019 01; 21(1):195-206.
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The natural history of phytosterolemia: Observations on its homeostasis. Atherosclerosis. 2018 02; 269:122-128.
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The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)?. Horm Res Paediatr. 2017; 87(3):205-212.
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A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. Neurogenetics. 2016 07; 17(3):173-8.
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Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. Circ Cardiovasc Genet. 2013 Aug; 6(4):327-36.
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Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet. 2013 Jul 11; 93(1):181-90.
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A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am J Hum Genet. 2012 Oct 05; 91(4):608-20.
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