Search Results - "Dvoynova, Natalya M"
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Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis
Published in Frontiers in genetics (09-02-2024)“…Ganglioside-monosialic acid (GM1) gangliosidosis (ICD-10: E75.1; OMIM: 230500, 230600, 230650) is a rare autosomal recessive hereditary disease, lysosomal…”
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Journal Article -
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Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities
Published in Frontiers in genetics (20-11-2019)“…We report on the phenotype and the reproductive history of an adult female patient with an unbalanced karyotype: 8p23 and 18p11.3 terminal deletions and 8p22…”
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Journal Article -
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Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis
Published in Frontiers in genetics (01-01-2024)“…Ganglioside-monosialic acid (GM1) gangliosidosis (ICD-10: E75.1; OMIM: 230500, 230600, 230650) is a rare autosomal recessive hereditary disease, lysosomal…”
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4
Reproductive History of a Woman With 8p and 18p Genetic Imbalance and Minor Phenotypic Abnormalities
Published in Frontiers in genetics (01-01-2019)Get full text
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