Lisbeth Tranebjærg


Ontology type: schema:Person     


Person Info

NAME

Lisbeth

SURNAME

Tranebjærg

Publications in SciGraph latest 50 shown

  • 2018-03 Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management in HUMAN GENETICS
  • 2018-02 The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management in HUMAN GENETICS
  • 2016-03 Phenotypic subregions within the split-hand/foot malformation 1 locus in HUMAN GENETICS
  • 2015-12 Partial USH2A deletions contribute to Usher syndrome in Denmark in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-12 Partial USH2A deletions contribute to Usher syndrome in Denmark in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-10 Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-10 Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-06 Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-04-01 Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-12 EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome in BMC PEDIATRICS
  • 2013-11 3-Methylglutaconic aciduria—lessons from 50 genes and 977 patients in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2013-06 Whole-genome sequencing in health care in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013-01 Developing a policy for paediatric biobanks: principles for good practice in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2013 Mitochondrial Diseases Caused by Mutations in Inner Membrane Chaperone Proteins in MITOCHONDRIAL DISORDERS CAUSED BY NUCLEAR GENES
  • 2012-11 http://www.euro-wabb.org: an EU Register for Alstrom, Bardet Biedl andother rare syndromes in CILIA
  • 2011-04 Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2010-07 Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion in PEDIATRIC NEPHROLOGY
  • 2010-02 Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2008-08 Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007-11 Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-10 A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2006-05 The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2005-12 The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone in NATURE GENETICS
  • 2005-12 Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2005-07 Hereditary hearing loss—the updated resource book more needed than ever in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2003-12 Provision of genetic services in Europe: current practices and issues in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2003-10 Homozygosity mapping of Marinesco–Sjögren syndrome to 5q31 in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2003-08 Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13 in HUMAN GENETICS
  • 2001-12 Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2001-09 Analysis of FMR1 (CGG)n alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2001-06 Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2001-01 Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen in HUMAN GENETICS
  • 2000-11 Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen in HUMAN GENETICS
  • 2000-08 Immunodeficiency in alpha-mannosidosis: a matched case-control study on immunoglobulins, complement factors, receptor density, phagocytosis and intracellular killing in leucocytes in EUROPEAN JOURNAL OF PEDIATRICS
  • 2000-08 Founder effect in spinal and bulbar muscular atrophy (SBMA) in Scandinavia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000-07 Identification of novel USH2A mutations: implications for the structure of USH2A protein in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000-06 A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness–dystonia–optic atrophy syndrome in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2000-01 Mohr-Tranebjaerg Syndrome is an X-linked Recessive Disorder Characterized by Mitochondrial Dysfunction Associated with Neuronal Cell Death in GENETICS IN MEDICINE
  • 1999-01 A new gene for dyslexia (DYX3) is located on chromosome 2 in GENETICS IN MEDICINE
  • 1999-01 A new gene for dyslexia (DYX3) is located on chromosome 2. H.A in GENETICS IN MEDICINE
  • 1998-12 A neocentromere on human chromosome 3 without detectable α-satellite DNA forms morphologically normal kinetochores in CHROMOSOMA
  • 1997-04 The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions in HUMAN GENETICS
  • 1996-10 A novel X–linked gene, DDP, shows mutations in families with deafness (DFN–1), dystonia, mental deficiency and blindness in NATURE GENETICS
  • 1994-02 394delTT: a Nordic cystic fibrosis mutation in HUMAN GENETICS
  • 1989-06 Localization in man of fifteen DNA sequences within the chromosome segment 13q12‐q22 in HEREDITAS
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