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Articles published in Hum Mutat

Retrieve available abstracts of 18 articles:
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Single Articles


    December 2017
  1. DHEKNE HS, Pylypenko O, Overeem AW, Ferreira RJ, et al
    MYO5B, STX3 and STXBP2 mutations reveal a common disease mechanism that unifies a subset of congenital diarrheal disorders: A mutation update.
    Hum Mutat. 2017 Dec 21. doi: 10.1002/humu.23386.
    PubMed     Text format     Abstract available


    November 2017
  2. DI LASCIO S, Benfante R, Di Zanni E, Cardani S, et al
    Structural and functional differences in phox2b frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome.
    Hum Mutat. 2017 Nov 2. doi: 10.1002/humu.23365.
    PubMed     Text format     Abstract available


    October 2017
  3. MARSH AP, Edwards TJ, Galea C, Cooper HM, et al
    DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum and developmental split brain syndrome.
    Hum Mutat. 2017 Oct 25. doi: 10.1002/humu.23361.
    PubMed     Text format     Abstract available


    September 2017
  4. 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
  5. 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


  6. 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


    June 2017
  7. ALSINA CASANOVA M, Monteagudo-Sanchez A, Rodiguez Guerineau L, Court F, et al
    Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted.
    Hum Mutat. 2017;38:615-620.
    PubMed     Text format     Abstract available


    April 2017
  8. 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


    March 2017
  9. 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
  10. 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


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


    January 2017
  12. 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
  13. 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
  14. 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


  15. 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


  16. 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
  17. 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


  18. 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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