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Articles published in Hum Mutat

Retrieve available abstracts of 4 articles:
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    May 2016
  1. JULLIEN L, Kannengiesser C, Kermasson L, Cormier-Daire V, et al
    Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.
    Hum Mutat. 2016;37:469-72.
    PubMed     Text format     Abstract available

    June 2015
  2. SUKALO M, Tilsen F, Kayserili H, Muller D, et al
    DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
    Hum Mutat. 2015;36:593-8.
    PubMed     Text format     Abstract available

    May 2015
  3. SYX D, Van Damme T, Symoens S, Maiburg MC, et al
    Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
    Hum Mutat. 2015;36:535-47.
    PubMed     Text format     Abstract available

  4. DAL MAS A, Fortugno P, Donadon I, Levati L, et al
    Exon-Specific U1s Correct SPINK5 Exon 11 Skipping Caused by a Synonymous Substitution that Affects a Bifunctional Splicing Regulatory Element.
    Hum Mutat. 2015;36:504-12.
    PubMed     Text format     Abstract available

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