Anna Biernacka to Mutation
This is a "connection" page, showing publications Anna Biernacka has written about Mutation.
Connection Strength
0.563
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Cytomorphologic and molecular characterization of spindle cell carcinoid tumors of the lung. Cancer Cytopathol. 2024 Oct; 132(10):656-665.
Score: 0.105
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Lung adenocarcinomas with isolated TP53 mutation: A comprehensive clinical, cytopathologic and molecular characterization. Cancer Med. 2024 Jan; 13(1):e6873.
Score: 0.101
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Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. Hum Mol Genet. 2018 11 01; 27(21):3669-3674.
Score: 0.071
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Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome. J Hum Genet. 2018 Apr; 63(4):517-520.
Score: 0.067
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Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review. Eur J Med Genet. 2018 Mar; 61(3):157-160.
Score: 0.066
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Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy. Sci Rep. 2017 06 13; 7(1):3362.
Score: 0.064
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AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. J Appl Genet. 2020 May; 61(2):213-218.
Score: 0.019
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Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation. Clin Genet. 2018 10; 94(3-4):381-385.
Score: 0.017
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Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene. Clin Dysmorphol. 2018 Apr; 27(2):49-52.
Score: 0.017
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A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa. Clin Genet. 2018 05; 93(5):1107-1108.
Score: 0.017
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New evidence for association of recessive IARS gene mutations with hepatopathy, hypotonia, intellectual disability and growth retardation. Clin Genet. 2017 12; 92(6):671-673.
Score: 0.017