ALICIA TURNER to Humans
This is a "connection" page, showing publications ALICIA TURNER has written about Humans.
Connection Strength
0.050
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Advancements in therapeutics for inborn errors of metabolism. Curr Opin Pediatr. 2022 12 01; 34(6):559-564.
Score: 0.021
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De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature. Am J Med Genet A. 2025 Jun; 197(6):e63975.
Score: 0.006
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Defects in lipid homeostasis reflect the function of TANGO2 in phospholipid and neutral lipid metabolism. Elife. 2023 03 24; 12.
Score: 0.005
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PAK1 c.1409?T?>?a (p. Leu470Gln) de novo variant affects the protein kinase domain, leading to epilepsy, macrocephaly, spastic quadriplegia, and hydrocephalus: Case report and review of the literature. Am J Med Genet A. 2023 06; 191(6):1619-1625.
Score: 0.005
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Health-related quality of life in adults with osteogenesis imperfecta. Clin Genet. 2021 06; 99(6):772-779.
Score: 0.005
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Pediatric Outcomes Data Collection Instrument is a Useful Patient-Reported Outcome Measure for Physical Function in Children with Osteogenesis Imperfecta. Genet Med. 2020 03; 22(3):581-589.
Score: 0.004
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Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature. Am J Med Genet A. 2019 03; 179(3):475-479.
Score: 0.004