ELIZABETH ROEDER to Genotype
This is a "connection" page, showing publications ELIZABETH ROEDER has written about Genotype.
Connection Strength
0.165
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Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms. Mol Genet Genomic Med. 2021 10; 9(10):e1809.
Score: 0.031
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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Hum Mutat. 2020 03; 41(3):641-654.
Score: 0.028
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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis. Genet Med. 2020 02; 22(2):389-397.
Score: 0.027
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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med. 2018 10; 20(10):1175-1185.
Score: 0.024
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De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. Hum Mutat. 2015 Apr; 36(4):454-62.
Score: 0.020
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Tetrasomy 18p: report of the molecular and clinical findings of 43 individuals. Am J Med Genet A. 2010 Sep; 152A(9):2164-72.
Score: 0.014
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Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet. 2010 Aug; 47(8):513-24.
Score: 0.014
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Trisomy 12 mosaicism confirmed in multiple organs from a liveborn child. Am J Med Genet. 2000 Dec 18; 95(5):444-9.
Score: 0.007