SHINYA YAMAMOTO to Adolescent
This is a "connection" page, showing publications SHINYA YAMAMOTO has written about Adolescent.
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0.066
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De novo and inherited variants in DDX39B cause a novel neurodevelopmental syndrome. Brain. 2025 Aug 01; 148(8):2658-2670.
Score: 0.015
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Pathogenic SATB2 missense variants affecting p.Gly392 have variable functional implications and result in diverse clinical phenotypes. J Med Genet. 2024 10 23; 61(11):1062-1067.
Score: 0.015
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Loss-of-function in RBBP5 results in a syndromic neurodevelopmental disorder associated with microcephaly. Genet Med. 2024 11; 26(11):101218.
Score: 0.014
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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. Am J Hum Genet. 2020 12 03; 107(6):1096-1112.
Score: 0.011
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. Nat Commun. 2019 10 15; 10(1):4679.
Score: 0.010