Biochemistry articles within European Journal of Human Genetics

Featured

• Article | 14 August 2013

  New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia

  • Sergio Lainez
  • , Karl Peter Schlingmann
  •  & Joost G Hoenderop

• Article | 17 July 2013

  An efficient method for long-term room temperature storage of RNA

  • Anne-Lise Fabre
  • , Marthe Colotte
  •  & Jacques Bonnet

• Article | 24 April 2013

  Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST

  • Maria A Pantaleo
  • , Annalisa Astolfi
  •  & Guido Biasco

• Article | 12 December 2012

  Abnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum

  • Xiaolong Zhou
  • , Sikandar G Khan
  •  & Kenneth H Kraemer

• Short Report | 29 August 2012

  The frequency of an IL-18-associated haplotype in Africans

  • Simon R Thompson
  • , Steve E Humphries
  •  & Krishna R Veeramah

• Article | 27 June 2012

  Inferring separate parental admixture components in unknown DNA samples using autosomal SNPs

  • Daniel J M Crouch
  •  & Michael E Weale

• Short Report | 16 May 2012

  Genetic investigation of FOXO3A requires special attention due to sequence homology with FOXO3B

  • Friederike Flachsbart
  • , Michael Möller
  •  & Almut Nebel

• Article | 13 July 2011

  2p15–p16.1 microdeletion syndrome: molecular characterization and association of the OTX1 and XPO1 genes with autism spectrum disorders

  • Xudong Liu
  • , Patrick Malenfant
  •  & Jeanette JA Holden

• Article | 06 July 2011

  Initial interrogation, confirmation and fine mapping of modifying genes: STAT3, IL1B and IFNGR1 determine cystic fibrosis disease manifestation

  • Heike Labenski
  • , Silke Hedtfeld
  •  & Frauke Stanke

• Short Report | 08 June 2011

  Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus

  • Jamal Ghoumid
  • , Joris Andrieux
  •  & Muriel Holder-Espinasse

• Special Report | 01 June 2011

  Fatty acid desaturase 2 promoter mutation is not responsible for Δ6-desaturase deficiency

  • Melissa K Gregory
  • , Susan E Lester
  •  & Michael J James

• Article | 27 April 2011

  The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein

  • Ken Op de Beeck
  • , Guy Van Camp
  •  & Lut Van Laer

• Article | 30 March 2011

  Genetic architecture of circulating lipid levels

  • Ayşe Demirkan
  • , Najaf Amin
  •  & Cornelia M van Duijn

• Article | 16 March 2011

  Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence

  • Elaine A Dunlop
  • , Kayleigh M Dodd
  •  & Andrew R Tee

• Article | 02 February 2011

  Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development

  • Elizabeth J Bhoj
  • , Purita Ramos
  •  & Andrew R Zinn

• Article | 26 January 2011

  Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys–Dietz syndrome fibroblasts: a possible treatment?

  • Christopher P Barnett
  • , David Chitayat
  •  & Aleksander Hinek

• Short Report | 01 December 2010

  A population-based study of polymorphisms in genes related to sex hormones and abdominal aortic aneurysm

  • Jonathan Golledge
  • , Erik Biros
  •  & Paul E Norman

• Article | 24 November 2010

  Family-based association study of ITGB3 in autism spectrum disorder and its endophenotypes

  • Valerio Napolioni
  • , Federica Lombardi
  •  & Antonio M Persico

• Article | 23 June 2010

  A single nucleotide polymorphism in APOA5 determines triglyceride levels in Hong Kong and Guangzhou Chinese

  • Chao Qiang Jiang
  • , Bin Liu
  •  & G Neil Thomas

• Article | 19 May 2010

  Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements

  • Annabel Whibley
  • , Jill Urquhart
  •  & F Lucy Raymond

• Short Report | 05 May 2010

  Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30

  • Ching-Chyuan Su
  • , Shuan-Yow Li
  •  & Jiann-Jou Yang

• Article | 24 March 2010

  Usefulness of factor V Leiden mutation testing in clinical practice

  • Ellen Ø Blinkenberg
  • , Ann-Helen Kristoffersen
  •  & Gunnar Houge

• Article | 24 February 2010

  Polymorphisms in the IL2, IL2RA and IL2RB genes in multiple sclerosis risk

  • María L Cavanillas
  • , Antonio Alcina
  •  & Elena Urcelay

• Short Report | 13 January 2010

  Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

  • Muhammad Farooq
  • , Jesper T Troelsen
  •  & Klaus W Kjaer