LAURIE ROBAK to Phenotype
This is a "connection" page, showing publications LAURIE ROBAK has written about Phenotype.
Connection Strength
0.139
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MGA-related syndrome: A proposed novel disorder. HGG Adv. 2025 Jan 09; 6(1):100387.
Score: 0.030
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RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model. J Genet Genomics. 2024 Dec; 51(12):1389-1403.
Score: 0.029
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A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324.
Score: 0.023
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The expanding clinical phenotype of germline ABL1-associated congenital heart defects and skeletal malformations syndrome. Hum Mutat. 2020 10; 41(10):1738-1744.
Score: 0.022
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The expanding neurological phenotype of DNM1L-related disorders. Brain. 2018 04 01; 141(4):e28.
Score: 0.019
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Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila. Hum Mol Genet. 2016 05 01; 25(9):1846-56.
Score: 0.016