WILLIAM CRAIGEN to Heterozygote
This is a "connection" page, showing publications WILLIAM CRAIGEN has written about Heterozygote.
Connection Strength
0.241
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Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy. Am J Med Genet A. 2011 Dec; 155A(12):3025-9.
Score: 0.080
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De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363.
Score: 0.037
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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018 10; 20(10):1175-1185.
Score: 0.031
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Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66.
Score: 0.030
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Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. Mol Genet Metab. 2016 09; 119(1-2):68-74.
Score: 0.028
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MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations. Mol Genet Metab. 2010 Mar; 99(3):300-8.
Score: 0.017
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Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions. Am J Med Genet A. 2003 Apr 30; 118A(3):260-6.
Score: 0.011
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Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency. Hum Mol Genet. 1996 Dec; 5(12):1925-30.
Score: 0.007