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Articles published in
J Med Genet
    March 2021
  1. KIM BJ, Jeon HW, Jeon W, Han JH, et al
    Rising of LOXHD1 as a signature causative gene of down-sloping hearing loss in people in their teens and 20s.
    J Med Genet. 2021 Mar 22. pii: jmedgenet-2020-107594.
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  2. JI P, Chang J, Wei X, Song X, et al
    Genetic variants associated with expression of TCF19 contribute to the risk of head and neck cancer in Chinese population.
    J Med Genet. 2021 Mar 5. pii: jmedgenet-2020-107410.
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    January 2021
  3. DE LAAT P, Rodenburg RR, Roeleveld N, Koene S, et al
    Six-year prospective follow-up study in 151 carriers of the mitochondrial DNA 3243 A>G variant.
    J Med Genet. 2021;58:48-55.
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    April 2020
  4. BLANCHON S, Legendre M, Bottier M, Tamalet A, et al
    Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
    J Med Genet. 2020;57:237-244.
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    March 2020
  5. KNAPP KM, Sullivan R, Murray J, Gimenez G, et al
    Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
    J Med Genet. 2020;57:195-202.
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    February 2020
  6. LUSK L, Black E, Vengoechea J
    Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram Syndrome.
    J Med Genet. 2020;57:121-123.
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