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Articles published in Hum Mutat

Retrieve available abstracts of 13 articles:
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Single Articles


    March 2017
  1. 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
  2. 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


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


    January 2017
  4. 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
  5. 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
  6. 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


  7. 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


  8. 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
  9. 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


  10. 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


    December 2015
  11. MA AS, Grigg JR, Ho G, Prokudin I, et al
    Sporadic and Familial Congenital Cataracts: Mutational Spectrum and new Diagnoses using Next-Generation Sequencing.
    Hum Mutat. 2015 Dec 23. doi: 10.1002/humu.22948.
    PubMed     Text format     Abstract available


  12. WERNER P, Latney B, Deardorff MA, Goldmuntz E, et al
    MESP1 Mutations in Patients with Congenital Heart Defects.
    Hum Mutat. 2015 Dec 23. doi: 10.1002/humu.22947.
    PubMed     Text format     Abstract available


    May 2015
  13. 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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