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Articles published in Hum Mutat

Retrieve available abstracts of 13 articles:
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    September 2017
  1. 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

    July 2017
  2. WAMBACH JA, Stettner GM, Haack TB, Writzl K, et al
    Survival among children with "Lethal" congenital contracture syndrome 11 caused by novel mutations in the gliomedin gene (GLDN).
    Hum Mutat. 2017 Jul 20. doi: 10.1002/humu.23297.
    PubMed     Text format     Abstract available

  3. HENDEE K, Wang LW, Reis LM, Rice GM, et al
    Identification and functional analysis of an ADAMTSL1 variant associated with a complex phenotype including congenital glaucoma, craniofacial and other systemic features in a three generation human pedigree.
    Hum Mutat. 2017 Jul 19. doi: 10.1002/humu.23299.
    PubMed     Text format     Abstract available

    March 2017
  4. TANIGAWA J, Mimatsu H, Mizuno S, Okamoto N, et al
    Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.
    Hum Mutat. 2017 Mar 23. doi: 10.1002/humu.23219.
    PubMed     Text format     Abstract available

    February 2017
  5. JANECKE AR, Xu R, Steichen-Gersdorf E, Waldegger S, et al
    Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications.
    Hum Mutat. 2017 Feb 8. doi: 10.1002/humu.23192.
    PubMed     Text format     Abstract available

    Congenital Disorders of Glycosylation: A Pipeline to Treatment?
    Hum Mutat. 2017;38:127.
    PubMed     Text format    

    January 2017
  7. TAKEDA K, Kou I, Kawakami N, Iida A, et al
    Compound Heterozygosity for Null Mutations and a Common Hypomorphic Risk Haplotype in Tbx6 Causes Congenital Scoliosis.
    Hum Mutat. 2017 Jan 5. doi: 10.1002/humu.23168.
    PubMed     Text format     Abstract available

    November 2016
  8. MATALONGA L, Bravo M, Peinado CS, Garcia-Pelegri E, et al
    Mutations in TRAPPC11 are Associated with a Congenital Disorder of Glycosylation.
    Hum Mutat. 2016 Nov 10. doi: 10.1002/humu.23145.
    PubMed     Text format     Abstract available

    June 2016
  9. NASCA A, Legati A, Baruffini E, Nolli C, et al
    Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy.
    Hum Mutat. 2016 Jun 22. doi: 10.1002/humu.23033.
    PubMed     Text format     Abstract available

  10. GIRARD M, Bizet AA, Lachaux A, Gonzales E, et al
    DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.
    Hum Mutat. 2016 Jun 20. doi: 10.1002/humu.23031.
    PubMed     Text format     Abstract available

  11. 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

    February 2016
  12. IGREJA S, Clarke LA, Botelho HM, Marques L, et al
    Correction of a Cystic Fibrosis Splicing Mutation by Antisense Oligonucleotides.
    Hum Mutat. 2016;37:209-15.
    PubMed     Text format     Abstract available

  13. HUGHES EE, Stevens CF, Saavedra-Matiz CA, Tavakoli NP, et al
    Clinical Sensitivity of Cystic Fibrosis Mutation Panels in a Diverse Population.
    Hum Mutat. 2016;37:201-8.
    PubMed     Text format     Abstract available

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