Gerarda Cappuccio to Syndrome
This is a "connection" page, showing publications Gerarda Cappuccio has written about Syndrome.
Connection Strength
0.336
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Gait disturbance and lower limb pain in a patient with PIK3CA-related disorder. Eur J Med Genet. 2017 Dec; 60(12):655-657.
Score: 0.117
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Functional correlation of genome-wide DNA methylation profiles in genetic neurodevelopmental disorders. Hum Mutat. 2022 11; 43(11):1609-1628.
Score: 0.041
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De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome. Neurology. 2022 03 15; 98(11):440-445.
Score: 0.040
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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy. Am J Hum Genet. 2021 05 06; 108(5):857-873.
Score: 0.038
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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism. Am J Hum Genet. 2021 06 03; 108(6):1138-1150.
Score: 0.038
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Two cases of 16q12.1q21 deletions and refinement of the critical region. Eur J Med Genet. 2020 Jun; 63(6):103878.
Score: 0.035
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De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia. Eur J Hum Genet. 2016 08; 24(9):1359-62.
Score: 0.026