SANDESH NAGAMANI to Phenotype
This is a "connection" page, showing publications SANDESH NAGAMANI has written about Phenotype.
Connection Strength
0.559
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Phenotypic manifestations of copy number variation in chromosome 16p13.11. Eur J Hum Genet. 2011 Mar; 19(3):280-6.
Score: 0.172
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From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria. Hum Mutat. 2020 05; 41(5):946-960.
Score: 0.081
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Early prediction of phenotypic severity in Citrullinemia Type 1. Ann Clin Transl Neurol. 2019 09; 6(9):1858-1871.
Score: 0.079
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Optimizing therapy for argininosuccinic aciduria. Mol Genet Metab. 2012 Sep; 107(1-2):10-4.
Score: 0.048
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Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet. 2010 Mar; 18(3):278-84.
Score: 0.040
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Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency. Ann Clin Transl Neurol. 2022 11; 9(11):1715-1726.
Score: 0.024
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ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype. Hum Genet. 2021 Oct; 140(10):1471-1485.
Score: 0.023
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Hearing loss in individuals with osteogenesis imperfecta in North America: Results from a multicenter study. Am J Med Genet A. 2020 04; 182(4):697-704.
Score: 0.020
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Mobility in osteogenesis imperfecta: a multicenter North American study. Genet Med. 2019 10; 21(10):2311-2318.
Score: 0.019
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Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects. J Inherit Metab Dis. 2019 11; 42(6):1147-1161.
Score: 0.019
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Delineation of candidate genes responsible for structural brain abnormalities in patients with terminal deletions of chromosome 6q27. Eur J Hum Genet. 2015 Jan; 23(1):54-60.
Score: 0.014
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Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet. 2011 May 15; 20(10):1975-88.
Score: 0.011
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The phenotype of recurrent 10q22q23 deletions and duplications. Eur J Hum Genet. 2011 Apr; 19(4):400-8.
Score: 0.011