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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
Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-18040-y
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- 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
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- 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
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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
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
Functional assessment of variants associated with Wolfram syndrome.
- Published in:
- Human Molecular Genetics, 2019, v. 28, n. 22, p. 3815, doi. 10.1093/hmg/ddz212
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- Publication type:
- Article
Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA.
- Published in:
- 2019
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- Publication type:
- journal article
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR‐DSCR) on human chromosome 21.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.797
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- 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
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- 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
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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
Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia.
- Published in:
- Human Mutation, 2017, v. 38, n. 7, p. 764, doi. 10.1002/humu.23233
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- Publication type:
- Article
Usher syndrome in Denmark: mutation spectrum and some clinical observations.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 5, p. 527, doi. 10.1002/mgg3.228
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- 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
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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
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.
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- 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.
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- 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
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
3-Methylglutaconic aciduria-lessons from 50 genes and 977 patients.
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- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 913, doi. 10.1007/s10545-012-9579-6
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- 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
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- Publication type:
- Article
Whole-genome sequencing in health care.
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- 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
En begejstret tvillingeforskers bog.
- Published in:
- Journal of the Norwegian Medical Association / Tidsskrift for Den Norske Laegeforening, 2013, n. 7, p. 773
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- 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
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- Publication type:
- Article
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.
- Published in:
- 2013
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- Publication type:
- journal 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
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- Publication type:
- Article
Mutation update on the CHD7 gene involved in CHARGE syndrome.
- Published in:
- Human Mutation, 2012, v. 33, n. 8, p. 1149, doi. 10.1002/humu.22086
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- Publication type:
- Article
A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome.
- Published in:
- Human Mutation, 2012, v. 33, n. 8, p. 1251, doi. 10.1002/humu.22106
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- Publication type:
- 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
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
Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2964, doi. 10.1002/ajmg.a.34302
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- Publication type:
- Article
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1298, doi. 10.1002/ajmg.a.33970
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- Publication type:
- Article
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion.
- Published in:
- 2010
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- Publication type:
- Case Study
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
Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.
- Published in:
- 2010
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- 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
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- Publication type:
- Article
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
- Published in:
- Human Mutation, 2008, v. 29, n. 3, p. 451, doi. 10.1002/humu.9524
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- 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
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
P095: Otopathology in Mohr-Tranebjaerg Syndrome
- Published in:
- 2007
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- Publication type:
- Abstract
The coding region of TP53INP2, a gene expressed in the developing nervous system, is not altered in a family with autosomal recessive non‐progressive infantile ataxia on chromosome 20q11‐q13.
- Published in:
- Developmental Dynamics, 2007, v. 236, n. 3, p. 843, doi. 10.1002/dvdy.21064
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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.
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- 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
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
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- Publication type:
- Article
Hereditary hearing loss—the updated resource book more needed than ever.
- Published in:
- 2005
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- Publication type:
- Book Review
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
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