STEPHANIE BASKIN to Humans
This is a "connection" page, showing publications STEPHANIE BASKIN has written about Humans.
Connection Strength
0.037
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The first reported case of Loeys-Dietz syndrome in a patient with biallelic SMAD3 variants. Am J Med Genet A. 2020 11; 182(11):2755-2760.
Score: 0.019
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Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals. Eur J Hum Genet. 2024 Aug; 32(8):928-937.
Score: 0.006
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Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102.
Score: 0.006
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Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. Eur J Hum Genet. 2023 10; 31(10):1117-1124.
Score: 0.006