Kenton Holden to Mutation
This is a "connection" page, showing publications Kenton Holden has written about Mutation.
Connection Strength
0.947
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Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita. Pediatr Neurol. 2010 May; 42(5):365-8.
Score: 0.241
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A novel GLRA1 mutation associated with an atypical hyperekplexia phenotype. J Child Neurol. 2008 Dec; 23(12):1433-8.
Score: 0.219
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A novel familial autosomal dominant mutation in ARID1B causing neurodevelopmental delays, short stature, and dysmorphic features. Am J Med Genet A. 2016 12; 170(12):3313-3318.
Score: 0.093
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Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation. J Child Neurol. 2014 Aug; 29(8):NP13-7.
Score: 0.075
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Novel mutation in Sjogren-Larsson syndrome is associated with divergent neurologic phenotypes. J Child Neurol. 2013 Oct; 28(10):1259-65.
Score: 0.071
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Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet. 2008 Aug; 83(2):170-9.
Score: 0.053
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Persistent growth failure in Prader-Willi syndrome associated with short-chain acyl-CoA dehydrogenase gene variant. J Child Neurol. 2008 Jan; 23(1):112-7.
Score: 0.051
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Expansion of the deletion 13q syndrome phenotype: a case report. J Child Neurol. 2007 Sep; 22(9):1124-7.
Score: 0.050
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X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Am J Hum Genet. 2002 May; 70(5):1349-56.
Score: 0.034
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?-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain. 2013 Jun; 136(Pt 6):1708-17.
Score: 0.019
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Natural history of Christianson syndrome. Am J Med Genet A. 2010 Nov; 152A(11):2775-83.
Score: 0.016
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Finding new etiologies of mental retardation and hypotonia: X marks the spot. Dev Med Child Neurol. 2008 Feb; 50(2):104-11.
Score: 0.013
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Carriers and patients with muscle-eye-brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts. Neuromuscul Disord. 2006 Feb; 16(2):132-6.
Score: 0.011