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1801 results found for your search

  • Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

    Sandrine Marlin, Jean-Michel Rozet, Meriem Garfa-Traoré , Stanislas Lyonnet, Nathalie Boddaert

    Source :

    Am. J. Hum. Genet.

    2018 Jan 2

    Pmid / DOI:

    29198720

  • FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases.

    Sandrine Marlin

    Source :

    Am. J. Hum. Genet.

    2017 Oct 16

    Pmid / DOI:

    28965846

  • Digitoxin metabolism by rat liver microsomes.

    Source :

    Biochem. Pharmacol.

    1976 Jan 23

    Pmid / DOI:

    https://doi.org/10.1016/0006-2952(75)90094-5

  • Mutations in PERP Cause Dominant and Recessive Keratoderma.

    Alain Hovnanian

    Source :

    J. Invest. Dermatol.

    2019 Dec 5

    Pmid / DOI:

    30321533

  • APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.

    Alain Hovnanian

    Source :

    Sci Transl Med

    2019 Oct 11

    Pmid / DOI:

    30135250