FERNANDO SCAGLIA to Carrier Proteins
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Carrier Proteins.
Connection Strength
0.822
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Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension. Am J Med Genet A. 2020 04; 182(4):755-761.
Score: 0.383
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Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. Genet Med. 2012 Oct; 14(10):868-76.
Score: 0.226
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Functional characterization of the carnitine transporter defective in primary carnitine deficiency. Arch Biochem Biophys. 1999 Apr 01; 364(1):99-106.
Score: 0.091
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Genotype-phenotype correlations in individuals with pathogenic RERE variants. Hum Mutat. 2018 05; 39(5):666-675.
Score: 0.083
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Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Mol Genet Metab. 2017 09; 122(1-2):60-66.
Score: 0.020
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Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation. Am J Hum Genet. 2017 Jan 05; 100(1):91-104.
Score: 0.019