Gerarda Cappuccio to Infant, Newborn
This is a "connection" page, showing publications Gerarda Cappuccio has written about Infant, Newborn.
Connection Strength
0.271
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A systematic cross-sectional survey of multiple sulfatase deficiency. Mol Genet Metab. 2020 08; 130(4):283-288.
Score: 0.070
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Opening a window on lysosomal acid lipase deficiency: Biochemical, molecular, and epidemiological insights. J Inherit Metab Dis. 2019 05; 42(3):509-518.
Score: 0.064
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Pearls & oy-sters: familial epileptic encephalopathy due to methylenetetrahydrofolate reductase deficiency. Neurology. 2014 Jul 15; 83(3):e41-4.
Score: 0.046
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Bronchial isomerism in a Kabuki syndrome patient with a novel mutation in MLL2 gene. BMC Med Genet. 2014 Jan 28; 15:15.
Score: 0.045
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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature. Am J Hum Genet. 2021 06 03; 108(6):1053-1068.
Score: 0.019
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 08 01; 105(2):302-316.
Score: 0.016
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A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome. Am J Med Genet A. 2014 Jan; 164A(1):190-3.
Score: 0.011