FERNANDO SCAGLIA to Syndrome
This is a "connection" page, showing publications FERNANDO SCAGLIA has written about Syndrome.
Connection Strength
0.532
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Mitochondrial DNA replication: clinical syndromes. Essays Biochem. 2018 07 20; 62(3):297-308.
Score: 0.117
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Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70. Mol Genet Metab. 2010 Oct-Nov; 101(2-3):282-5.
Score: 0.067
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The role of mitochondrial dysfunction in psychiatric disease. Dev Disabil Res Rev. 2010; 16(2):136-43.
Score: 0.065
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The Xp contiguous deletion syndrome and autism. Am J Med Genet A. 2009 Jun; 149A(6):1138-48.
Score: 0.062
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Tetrasomy 13q mosaicism associated with phylloid hypomelanosis and precocious puberty. Am J Med Genet A. 2009 May; 149A(5):993-6.
Score: 0.062
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Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC). Mol Genet Metab. 2022 06; 136(2):125-131.
Score: 0.038
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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: 0.026
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Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes. Am J Med Genet A. 2016 10; 170(10):2711-8.
Score: 0.025
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Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. Am J Med Genet A. 2015 Apr; 167A(4):914-8.
Score: 0.023
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Clinical phenotype and candidate genes for the 5q31.3 microdeletion syndrome. Am J Med Genet A. 2012 Aug; 158A(8):1891-6.
Score: 0.019
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Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007 Oct; 72(4):329-38.
Score: 0.014
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Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet. 2005 Apr; 42(4):328-35.
Score: 0.012