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Articles published in Hum Mutat

Retrieve available abstracts of 7 articles:
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Single Articles


    July 2018
  1. HOTZ A, Bourrat E, Kusel J, Oji V, et al
    Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.
    Hum Mutat. 2018 Jul 16. doi: 10.1002/humu.23594.
    PubMed     Text format     Abstract available


    September 2017
  2. VENET T, Masson E, Talbotec C, Billiemaz K, et al
    Severe infantile isolated exocrine pancreatic insufficiency caused by the complete functional loss of the SPINK1 gene.
    Hum Mutat. 2017 Sep 25. doi: 10.1002/humu.23343.
    PubMed     Text format     Abstract available


    April 2017
  3. BOHM J, Bulla M, Urquhart JE, Malfatti E, et al
    ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
    Hum Mutat. 2017;38:426-438.
    PubMed     Text format     Abstract available


  4. NELLEN RG, Steijlen PM, van Steensel MA, Vreeburg M, et al
    Mendelian Disorders of Cornification Caused by Defects in Intracellular Calcium Pumps: Mutation Update and Database for Variants in ATP2A2 and ATP2C1 Associated with Darier Disease and Hailey-Hailey Disease.
    Hum Mutat. 2017;38:343-356.
    PubMed     Text format     Abstract available


    March 2017
  5. SAMUEL N, Id Said B, Guha T, Novokmet A, et al
    Assessment of TP53 Polymorphisms and MDM2 SNP309 in Premenopausal Breast Cancer Risk.
    Hum Mutat. 2017;38:265-268.
    PubMed     Text format     Abstract available


    June 2016
  6. CHEN W, Perritt AF, Morissette R, Dreiling JL, et al
    Ehlers-Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia.
    Hum Mutat. 2016 Jun 14. doi: 10.1002/humu.23028.
    PubMed     Text format     Abstract available


    May 2016
  7. 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


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