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EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.
- Published in:
- 2019
- By:
- Publication type:
- journal article
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
- Published in:
- Movement Disorders, 2012, v. 27, n. 8, p. 1034, doi. 10.1002/mds.25033
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- Publication type:
- Article
Genome-wide homozygosity mapping localizes a gene for autosomal recessive non-progressive infantile ataxia to 20q11-q13.
- Published in:
- Human Genetics, 2003, v. 113, n. 3, p. 293, doi. 10.1007/s00439-003-0967-8
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- Publication type:
- Article
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.
- Published in:
- 2001
- By:
- Publication type:
- Erratum
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.
- Published in:
- Human Genetics, 2000, v. 107, n. 5, p. 499, doi. 10.1007/s004390000402
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- Publication type:
- Article
Refined localization and two additional linked families for the DFNA10 locus for nonsyndromic hearing impairment.
- Published in:
- Human Genetics, 2000, v. 107, n. 1, p. 7, doi. 10.1007/s004390050002
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- Publication type:
- Article
Genotype-Phenotype Correlation for DFNA22: Characterization of Non-Syndromic, Autosomal Dominant, Progressive Sensorineural Hearing Loss due to MYO6 Mutations.
- Published in:
- Audiology & Neurotology, 2010, v. 15, n. 4, p. 211, doi. 10.1159/000255339
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- Publication type:
- Article
Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 2, p. 287, doi. 10.1093/hmg/ddr458
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- Publication type:
- Article
Non-disjunction of chromosome 13.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 16, p. 2004, doi. 10.1093/hmg/ddm148
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- Publication type:
- Article
The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a–TIMM13 complex.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2101, doi. 10.1093/hmg/ddh217
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- Publication type:
- Article
Partial USH2A deletions contribute to Usher syndrome in Denmark.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1646, doi. 10.1038/ejhg.2015.54
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- Publication type:
- Article
Partial USH2A deletions contribute to Usher syndrome in Denmark.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1750, doi. 10.1038/ejhg.2015.131
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- Publication type:
- Article
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1438, doi. 10.1038/ejhg.2015.57
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- Publication type:
- Article
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 11, p. 1592, doi. 10.1038/ejhg.2015.109
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- Publication type:
- Article
Whole-genome sequencing in health care.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, p. S1, doi. 10.1038/ejhg.2013.46
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- Publication type:
- Article
Whole-genome sequencing in health care.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 580, doi. 10.1038/ejhg.2013.46
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- Publication type:
- Article
Adaptive Processes in Hearing.
- Published in:
- Trends in Hearing, 2018, v. 22, p. 1, doi. 10.1177/2331216518762261
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- Publication type:
- Article
Individual Hearing Loss: Characterization, Modelling, Compensation Strategies.
- Published in:
- Trends in Hearing, 2016, v. 20, p. 1, doi. 10.1177/2331216516655890
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- Publication type:
- Article
A novel mutation of AFG3L2 might cause dominant optic atrophy in patients with mild intellectual disability.
- Published in:
- Frontiers in Genetics, 2015, v. 6, p. 1, doi. 10.3389/fgene.2015.00311
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- Publication type:
- Article
Congenital Nonprofound Bilateral Sensorineural Hearing Loss in Children: Comprehensive Characterization of Auditory Function and Hearing Aid Benefit.
- Published in:
- Audiology Research, 2022, v. 12, n. 5, p. 539, doi. 10.3390/audiolres12050054
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- Publication type:
- Article
Novel Pathogenic Variants in PJVK , the Gene Encoding Pejvakin, in Subjects with Autosomal Recessive Non-Syndromic Hearing Impairment and Auditory Neuropathy Spectrum Disorder.
- Published in:
- Genes, 2022, v. 13, n. 1, p. 149, doi. 10.3390/genes13010149
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- Publication type:
- Article
Developing a policy for paediatric biobanks: principles for good practice.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 2, doi. 10.1038/ejhg.2012.99
- By:
- Publication type:
- Article
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
- Published in:
- 2010
- By:
- Publication type:
- Correction notice
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 961, doi. 10.1038/ejhg.2008.22
- By:
- Publication type:
- Article
Branchio–oto–renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 11, p. 1121, doi. 10.1038/sj.ejhg.5201900
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- Publication type:
- Article
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.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 10, p. 1097, doi. 10.1038/sj.ejhg.5201670
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- Publication type:
- Article
The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 5, p. 588, doi. 10.1038/sj.ejhg.5201598
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- Publication type:
- Article
Hereditary hearing loss—the updated resource book more needed than ever.
- Published in:
- 2005
- By:
- Publication type:
- Book Review
Provision of genetic services in Europe: current practices and issues.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, p. S13, doi. 10.1038/sj.ejhg.5201111
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- Publication type:
- Article
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 12, p. 903, doi. 10.1038/sj.ejhg.5200736
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- Publication type:
- Article
Analysis of FMR1 (CGG)<sub>n</sub> alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 9, p. 724, doi. 10.1038/sj.ejhg.5200697
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- Publication type:
- Article
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 6, p. 431, doi. 10.1038/sj.ejhg.5200656
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- Publication type:
- Article
Identification of novel USH2A mutations: implications for the structure of USH2A protein.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 7, p. 500, doi. 10.1038/sj.ejhg.5200491
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- Publication type:
- Article
A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness–dystonia–optic atrophy syndrome.
- Published in:
- European Journal of Human Genetics, 2000, v. 8, n. 6, p. 464
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- Publication type:
- Article
Activating mutations in discoidin domain receptor 2 cause Warburg‐Cinotti syndrome.
- Published in:
- Acta Ophthalmologica (1755375X), 2019, v. 97, p. N.PAG, doi. 10.1111/j.1755-3768.2019.5376
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- Publication type:
- Article
Immunoglobulin and Complement Studies in Children with Schönlein-Henoch Syndrome and Other Vasculitic Diseases.
- Published in:
- Acta Paediatrica, 1991, v. 80, n. 11, p. 1037, doi. 10.1111/j.1651-2227.1991.tb11780.x
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- Publication type:
- Article
The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone.
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1309, doi. 10.1038/ng1677
- By:
- Publication type:
- Article
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.
- Published in:
- BMC Pediatrics, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2431-13-130
- By:
- Publication type:
- Article
Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration*.
- Published in:
- Nephrology Dialysis Transplantation, 2013, v. 28, n. 3, p. 585, doi. 10.1093/ndt/gfs462
- By:
- Publication type:
- Article
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
Health, Life and Disability Insurance and Hereditary Risk for Breast or Colorectal Cancer.
- Published in:
- Acta Oncologica, 2000, v. 39, n. 2, p. 189, doi. 10.1080/028418600430752
- By:
- Publication type:
- Article
P095: Otopathology in Mohr-Tranebjaerg Syndrome
- Published in:
- 2007
- By:
- Publication type:
- Abstract
Early prenatal direct gene diagnosis of cystic fibrosis in a twin pregnancy and subsequent selective termination.
- Published in:
- Prenatal Diagnosis, 1994, v. 14, n. 2, p. 149, doi. 10.1002/pd.1970140212
- By:
- Publication type:
- Article
Biochemical analysis of novel NAA10 variants suggests distinct pathogenic mechanisms involving impaired protein N-terminal acetylation.
- Published in:
- Human Genetics, 2022, v. 141, n. 8, p. 1355, doi. 10.1007/s00439-021-02427-4
- By:
- Publication type:
- Article
A pathogenic deletion in Forkhead Box L1 (FOXL1) identifies the first otosclerosis (OTSC) gene.
- Published in:
- Human Genetics, 2022, v. 141, n. 3/4, p. 965, doi. 10.1007/s00439-021-02381-1
- By:
- Publication type:
- Article
Correction to: The CAPOS mutation in <italic>ATP1A3</italic> alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
The CAPOS mutation in <italic>ATP1A3</italic> alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.
- Published in:
- Human Genetics, 2018, v. 137, n. 2, p. 111, doi. 10.1007/s00439-017-1862-z
- By:
- Publication type:
- Article
Phenotypic subregions within the split-hand/foot malformation 1 locus.
- Published in:
- Human Genetics, 2016, v. 135, n. 3, p. 345, doi. 10.1007/s00439-016-1635-0
- By:
- Publication type:
- Article
3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 913, doi. 10.1007/s10545-012-9579-6
- By:
- Publication type:
- Article