ALISON BERTUCH to Intellectual Disability
This is a "connection" page, showing publications ALISON BERTUCH has written about Intellectual Disability.
Connection Strength
1.218
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The germline p53 activation syndrome: A new patient further refines the clinical phenotype. Am J Med Genet A. 2022 07; 188(7):2204-2208.
Score: 0.460
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From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. Hum Mutat. 2019 12; 40(12):2414-2429.
Score: 0.386
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A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome. Blood. 2013 May 02; 121(18):3586-93.
Score: 0.246
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Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. J Pediatr. 2021 03; 230:55-61.e4.
Score: 0.104
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Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN. Blood. 2018 08 09; 132(6):658-662.
Score: 0.022