Anna Biernacka to Infant
This is a "connection" page, showing publications Anna Biernacka has written about Infant.
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0.151
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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: 0.026
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Novel COL12A1 variant as a cause of mild familial extracellular matrix-related myopathy. Clin Genet. 2019 06; 95(6):736-738.
Score: 0.024
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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: 0.024
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Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders. J Med Genet. 2019 02; 56(2):104-112.
Score: 0.023
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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: 0.023
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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: 0.022
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Serum and urine leptin concentration in children with nephrotic syndrome. Pediatr Nephrol. 2005 May; 20(5):597-602.
Score: 0.009