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The Capital Region of Denmark - a part of Copenhagen University Hospital
  1. 2019
  2. Published

    Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

    Gorcenco, S., Vaz, F. M., Tracewska-Siemiatkowska, A., Tranebjærg, L., Cremers, F. P. M., Ygland, E., Kicsi, J., Rendtorff, N. D., Möller, C., Kjellström, U., Andréasson, S. & Puschmann, A., Apr 2019, In : Parkinsonism & related disorders. 61, p. 245-247 3 p.

    Research output: Contribution to journalLetterResearchpeer-review

  3. Published
  4. Published

    Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs

    Mikkelsen, K. S., Tranebjærg, L. & Mey, K., 2019, In : Cochlear Implants International. 20, p. 100-103

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. 2018
  6. Published

    Recurrent, Activating Variants in the Receptor Tyrosine Kinase DDR2 Cause Warburg-Cinotti Syndrome

    Xu, L., Jensen, H., Johnston, J. J., Di Maria, E., Kloth, K., Cristea, I., Sapp, J. C., Darling, T. N., Huryn, L. A., Tranebjærg, L., Cinotti, E., Kubisch, C., Rødahl, E., Bruland, O., Biesecker, L. G., Houge, G. & Bredrup, C., 6 Dec 2018, In : American Journal of Human Genetics. 103, 6, p. 976-983 8 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  7. Published

    Adaptive Processes in Hearing

    Santurette, S., Christensen-Dalsgaard, J., Tranebjærg, L., Andersen, T., Poulsen, T. & Dau, T., 14 Mar 2018, In : Trends in hearing. 22, p. 2331216518762261

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

    Tranebjærg, L., Strenzke, N., Lindholm, S., Rendtorff, N. D., Poulsen, H., Khandelia, H., Kopec, W., Lyngbye, T. J. B., Hamel, C., Delettre, C., Bocquet, B., Bille, M., Owen, H. H., Bek, T., Jensen, H., Østergaard, K., Möller, C., Luxon, L., Carr, L., Wilson, L., Rajput, K., Sirimanna, T., Harrop-Griffiths, K., Rahman, S., Vona, B., Doll, J., Haaf, T., Bartsch, O., Rosewich, H., Moser, T. & Bitner-Glindzicz, M., Feb 2018, In : Human Genetics. 137, 2, p. 111-127 17 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

    Tranebjærg, L., Strenzke, N., Lindholm, S., Rendtorff, N. D., Poulsen, H., Khandelia, H., Kopec, W., Lyngbye, T. J. B., Hamel, C., Delettre, C., Bocquet, B., Bille, M., Owen, H. H., Bek, T., Jensen, H., Østergaard, K., Möller, C., Luxon, L., Carr, L., Wilson, L., Rajput, K., Sirimanna, T., Harrop-Griffiths, K., Rahman, S., Vona, B., Doll, J., Haaf, T., Bartsch, O., Rosewich, H., Moser, T. & Bitner-Glindzicz, M., 2018

    Research output: Other contributionResearch

  10. 2017
  11. Published

    An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS

    Tracewska-Siemiątkowska, A., Haer-Wigman, L., Bosch, D. G. M., Nickerson, D., Bamshad, M. J., van de Vorst, M., Rendtorff, N. D., Möller, C., Kjellström, U., Andréasson, S., Cremers, F. P. M., Tranebjærg, L. & University of Washington Center for Mendelian Genomics, 11 Dec 2017, In : Genes. 8, 12, p. E381

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct

    Chattaraj, P., Munjal, T., Honda, K., Rendtorff, N. D., Ratay, J. S., Muskett, J. A., Risso, D. S., Roux, I., Gertz, E. M., Schäffer, A. A., Friedman, T. B., Morell, R. J., Tranebjærg, L. & Griffith, A. J., Oct 2017, In : Journal of Medical Genetics. 54, 10, p. 665-673 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Jervell and Lange-Nielsen Syndrome

    Tranebjærg, L., Samson, R. A. & Green, G. E., 17 Aug 2017, GeneReviews® [Internet]..

    Research output: Chapter in Book/Report/Conference proceedingBook chapterResearchpeer-review

  14. Published

    Monogenic diabetes syndromes: Locus-specific databases for Alström, Wolfram, and Thiamine-responsive megaloblastic anemia

    Astuti, D., Sabir, A., Fulton, P., Zatyka, M., Williams, D., Hardy, C., Milan, G., Favaretto, F., Yu-Wai-Man, P., Rohayem, J., López de Heredia, M., Hershey, T., Tranebjaerg, L., Chen, J-H., Chaussenot, A., Nunes, V., Marshall, B., McAfferty, S., Tillmann, V., Maffei, P., Paquis-Flucklinger, V., Geberhiwot, T., Mlynarski, W., Parkinson, K., Picard, V., Bueno, G. E., Dias, R., Arnold, A., Richens, C., Paisey, R., Urano, F., Semple, R., Sinnott, R. & Barrett, T. G., Jul 2017, In : Human Mutation. 38, 7, p. 764-777 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

    Zazo Seco, C., Castells-Nobau, A., Joo, S-H., Schraders, M., Foo, J. N., van der Voet, M., Velan, S. S., Nijhof, B., Oostrik, J., de Vrieze, E., Katana, R., Mansoor, A., Huynen, M., Szklarczyk, R., Oti, M., Tranebjærg, L., van Wijk, E., Scheffer-de Gooyert, J. M., Siddique, S., Baets, J., de Jonghe, P., Kazmi, S. A. R., Sadananthan, S. A., van de Warrenburg, B. P., Khor, C-C., Göpfert, M. C., Qamar, R., Schenck, A., Kremer, H. & Siddiqi, S., 1 Feb 2017, In : Disease models & mechanisms. 10, 2, p. 105-118 14 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy

    Liu, Y. P., Bosch, D. G. M., Siemiatkowska, A. M., Rendtorff, N. D., Boonstra, F. N., Möller, C., Tranebjærg, L., Katsanis, N. & Cremers, F. P. M., 2017, In : Ophthalmic Genetics. 38, 2, p. 127-132 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. 2016
  18. Published

    Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

    Tingaud-Sequeira, A., Raldúa, D., Lavie, J., Mathieu, G., Bordier, M., Knoll-Gellida, A., Rambeau, P., Coupry, I., André, M., Malm, E., Möller, C., Andreasson, S., Rendtorff, N. D., Tranebjærg, L., Koenig, M., Lacombe, D., Goizet, C. & Babin, P. J., 23 Nov 2016, In : Neurobiology of Disease. 98, p. 36-51 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  19. Published

    Usher syndrome in Denmark: mutation spectrum and some clinical observations

    Dad, S., Rendtorff, N. D., Tranebjærg, L., Grønskov, K., Karstensen, H. G., Brox, V., Nilssen, Ø., Roux, A-F., Rosenberg, T., Jensen, H. & Møller, L. B., Sep 2016, In : Molecular Genetics & Genomic Medicine. 4, 5, p. 527-539 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Individual Hearing Loss: Characterization, Modelling, Compensation Strategies

    Santurette, S., Dau, T., Christensen-Dalsgaard, J., Tranebjærg, L., Andersen, T. & Poulsen, T., 26 Aug 2016, In : Trends in hearing. 20, p. pii: 2331216516655890 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  21. Published

    Phenotypic subregions within the split-hand/foot malformation 1 locus

    Rasmussen, M. B., Kreiborg, S., Jensen, P., Bak, M., Mang, Y., Lodahl, M., Budtz-Jørgensen, E., Tommerup, N., Tranebjærg, L. & Rendtorff, N. D., Mar 2016, In : Human Genetics. 135, 3, p. 345-57 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. 2015
  23. Published

    Partial USH2A deletions contribute to Usher syndrome in Denmark

    Dad, S., Rendtorff, N. D., Kann, E., Albrechtsen, A., Mehrjouy, M. M., Bak, M., Tommerup, N., Tranebjærg, L., Rosenberg, T., Jensen, H. & Møller, L. B., Dec 2015

    Research output: Other contributionResearch

  24. Published

    Partial USH2A deletions contribute to Usher syndrome in Denmark

    Dad, S., Rendtorff, N. D., Kann, E., Albrechtsen, A., Mehrjouy, M. M., Bak, M., Tommerup, N., Tranebjærg, L., Rosenberg, T., Jensen, H. & Møller, L. B., Dec 2015, 6 p.

    Research output: Other contributionResearch

  25. Published

    Corrigendum: Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

    Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L., van El, C. G. & Cornel, M. C., Nov 2015

    Research output: Other contributionResearch

  26. Published

    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening

    Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L., van El, C. G., Cornel, M. C. & European Society of Human Genetics, Nov 2015, In : European journal of human genetics : EJHG. 23, 11, p. 1438-50 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

    Nyegaard, M., Rendtorff, N. D., Nielsen, M. S., Corydon, T. J., Demontis, D., Starnawska, A., Hedemand, A., Buniello, A., Niola, F., Overgaard, M. T., Leal, S. M., Ahmad, W., Wikman, F., Petersen, K., Crüger, D. G., Oostrik, J., Kremer, H., Tommerup, N., Frödin, M., Steel, K. P., Tranebjærg, L. & Børglum, A. D., Jul 2015, In : P L o S Genetics. 11, 7, p. e1005386

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    Phenotypic variability in a seven-generation Swedish family segregating autosomal dominant hearing impairment due to a novel EYA4 frameshift mutation

    Frykholm, C., Klar, J., Arnesson, H., Rehnman, A-C., Lodahl, M., Wedén, U., Dahl, N., Tranebjærg, L. & Rendtorff, N. D., 11 Feb 2015, In : Gene. 563, 1, p. 10-6

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations

    Dondorp, W., de Wert, G., Bombard, Y., Bianchi, D. W., Bergmann, C., Borry, P., Chitty, L. S., Fellmann, F., Forzano, F., Hall, A., Henneman, L., Howard, H. C., Lucassen, A., Ormond, K., Peterlin, B., Radojkovic, D., Rogowski, W., Soller, M., Tibben, A., Tranebjærg, L., van El, C. G. & Cornel, M. C., 2015, In : European journal of human genetics : EJHG. p. 1-3

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

    Severin, F., Borry, P., Cornel, M. C., Daniels, N., Fellmann, F., Victoria Hodgson, S., Howard, H. C., John, J., Kääriäinen, H., Kayserili, H., Kent, A., Koerber, F., Kristoffersson, U., Kroese, M., Lewis, C., Marckmann, G., Meyer, S. P., Pfeufer, A., Schmidtke, J., Skirton, H., Tranebjærg, L. & Rogowski, W. H., 2015, In : European journal of human genetics : EJHG. 23, 6, p. 729-35

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. 2014
  32. Published

    Genomet og syns- og høresansen

    Tranebjærg, L., Rendtorff, N. D. & Brøndum-Nielsen, K., 10 Nov 2014, In : Ugeskrift for læger [online]. 176, 46

    Research output: Contribution to journalJournal articleResearchpeer-review

  33. Published

    Mitochondrial 12S Ribosomal RNA A1555G Mutation Associated with Cardiomyopathy and Hearing Loss following High-Dose Chemotherapy and Repeated Aminoglycoside Exposure

    Skou, A-S., Tranebjærg, L., Jensen, T. & Hasle, H., 2014, In : The Journal of pediatrics. 164, 2, p. 413-15

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. 2013
  35. Published

    Hearing impairment in Estonia: An algorithm to investigate genetic causes in pediatric patients

    Teek, R., Kruustük, K., Zordania, R., Joost, K., Kahre, T., Tõnisson, N., Nelis, M., Zilina, O., Tranebjaerg, L., Reimand, T. & Ounap, K., 9 Nov 2013, In : Advances in Medical Sciences. 58, 2, p. 419-28

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients

    Wortmann, S. B., Kluijtmans, L. A. J., Rodenburg, R. J., Sass, J. O., Nouws, J., van Kaauwen, E. P., Kleefstra, T., Tranebjaerg, L., de Vries, M. C., Isohanni, P., Walter, K., Alkuraya, F. S., Smuts, I., Reinecke, C. J., van der Westhuizen, F. H., Thorburn, D., Smeitink, J. A. M., Morava, E. & Wevers, R. A., Nov 2013, In : Journal of Inherited Metabolic Disease. 36, 6, p. 913-21 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  37. Published

    Optic nerve histopathology in a case of Wolfram Syndrome: a mitochondrial pattern of axonal loss

    Ross-Cisneros, F. N., Pan, B. X., Silva, R. A., Miller, N. R., Albini, T. A., Tranebjaerg, L., Rendtorff, N. D., Lodahl, M., Moraes-Filho, M. N., Moraes, M. N., Salomao, S. R., Berezovsky, A., Belfort, R., Carelli, V. & Sadun, A. A., Nov 2013, In : Mitochondrion. 13, 6, p. 841-5 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  38. Published

    Progressive dystonia in Mohr-Tranebjaerg syndrome with cochlear implant and deep brain stimulation

    Cif, L., Gonzalez, V., Garcia-Ptacek, S., James, S., Boetto, J., Seychelles, A., Roujeau, T., Moura De Ribeiro, A. M., Sillon, M., Mondain, M., Coubes, P. & Tranebjærg, L., Jun 2013, In : Movement disorders : official journal of the Movement Disorder Society. 28, 6, p. 737-8 2 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Whole-genome sequencing in health care: recommendations of the European Society of Human Genetics

    van El, C. G., Cornel, M. C., Borry, P., Hastings, R. J., Fellmann, F., Hodgson, S. V., Howard, H. C., Cambon-Thomsen, A., Knoppers, B. M., Meijers-Heijboer, H., Scheffer, H., Tranebjaerg, L., Dondorp, W., de Wert, G. M. W. R. & ESHG Public and Professional Policy Committee, Jun 2013, In : European journal of human genetics : EJHG. 21, 6, p. 580-4 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration

    Storm, T., Tranebjærg, L., Frykholm, C., Birn, H., Verroust, P. J., Nevéus, T., Sundelin, B., Hertz, J. M., Holmström, G., Ericson, K., Christensen, E. I. & Nielsen, R. S., Mar 2013, In : Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association. 28, 3, p. 585-91 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. Published

    Developing a policy for paediatric biobanks: principles for good practice

    Hens, K., Van El, C. E., Borry, P., Cambon-Thomsen, A., Cornel, M. C., Forzano, F., Lucassen, A., Patch, C., Tranebjaerg, L., Vermeulen, E., Salvaterra, E., Tibben, A., Dierickx, K. & PPPC of the European Society of Human Genetics, Jan 2013, In : European journal of human genetics : EJHG. 21, 1, p. 2-7 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  42. Published

    EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome

    Farmer, A., Aymé, S., de Heredia, M. L., Maffei, P., McCafferty, S., Młynarski, W., Nunes, V., Parkinson, K., Paquis-Flucklinger, V., Rohayem, J., Sinnott, R., Tillmann, V., Tranebjaerg, L. & Barrett, T. G., 2013, In : B M C Pediatrics. 13, p. 130

    Research output: Contribution to journalJournal articleResearchpeer-review

  43. Published

    Phenotype in 18 Danish subjects with genetically verified CHARGE syndrome

    Husu, E., Hove, H. B., Farholt, S., Bille, M., Tranebjaerg, L., Vogel, I. & Kreiborg, S., 2013, In : Clinical Genetics. 83, 2, p. 125-134 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations

    Rendtorff, N., Schrijver, I., Lodahl, M., Rodriguez-Paris, J., Johnsen, T., Hansén, E., Nickelsen, L., Tümer, Z., Fagerheim, T., Wetke, R. & Tranebjaerg, L., 2013, In : The Application of Clinical Genetics. 84, 4, p. 388-391

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    WFS1-Related Disorders in: GeneReviews at GeneTests (February 2009, revised 2013)

    Tranebjærg, L., Rendtorff, ND. & Barrett, T. B., 2013, In : Medical Genetics Information Resource.

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. 2012
  47. Published

    "Mitochondrial diseases caused by mutations in inner membrane chaperone proteins" Book title: "Mitochondrial disorders Caused by Nuclear Genes"

    Tranebjærg, L., 2012, "Mitochondrial diseases causes by mutatons in inner membrane chaperone proteins". Wong, L-J. (ed.). Springer Publishing Company

    Research output: Chapter in Book/Report/Conference proceedingBook chapterResearchpeer-review

  48. Published

    A novel classification system to predict the pathogenic effects of CHD7 missense variants in CHARGE syndrome

    Bergman, J. E. H., Janssen, N., van der Sloot, A. M., de Walle, H. E. K., Schoots, J., Rendtorff, N. D., Tranebjaerg, L., Hoefsloot, L. H., van Ravenswaaij-Arts, C. M. A. & Hofstra, R. M. W., 2012, In : Human Mutation. 33, 8, p. 1251-60 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  49. Published

    Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology

    Engl, G., Florian, S., Tranebjærg, L. & Rapaport, D., 2012, In : Human Molecular Genetics. 21, 2, p. 287-99 13 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Published

    GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland

    Homøe, P., Koch, A., Rendtorff, N. D., Lodahl, M., Andersen, T., Andersen, S., Eiberg, H. R. L., Nielsen, I-M. & Tranebjærg, L., 2012, In : International Journal of Audiology. 51, 6, p. 433-6

    Research output: Contribution to journalJournal articleResearchpeer-review

  51. Published

    Jervell and Lange-Nielsen Syndrome in: GeneReviews at GeneTests

    Tranebjærg, L., 2012, In : Medical Genetics Information Resource.

    Research output: Contribution to journalJournal articleResearchpeer-review

  52. Published

    Mutation update on the CHD7 gene involved in CHARGE syndrome

    Janssen, N., Bergman, J. E. H., Swertz, M. A., Tranebjaerg, L., Lodahl, M., Schoots, J., Hofstra, R. M. W., van Ravenswaaij-Arts, C. M. A. & Hoefsloot, L. H., 2012, In : Human Mutation. 33, 8, p. 1149-60 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. Published

    Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

    Yuca, S. A., Rendtorff, N. D., Boulahbel, H., Lodahl, M., Tranebjærg, L., Cesur, Y., Dogan, M., Yilmaz, C., Akgun, C. & Acikgoz, M., 2012, In : European Journal of Medical Genetics. 55, 1, p. 37-42

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. Published

    The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome

    Ha, A. D., Parratt, K. L., Rendtorff, N. D., Lodahl, M., Ng, K., Rowe, D. B., Sue, C. M., Hayes, M. W., Tranebjaerg, L. & Fung, V. S. C., 2012, In : Movement Disorders. 27, 8, p. 1034-40 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  55. 2011
  56. Published

    A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome

    Koppelhus, U., Tranebjaerg, L., Esberg, G., Ramsing, M., Lodahl, M., Rendtorff, N. D., Olesen, H. V. & Sommerlund, M., 1 Mar 2011, In : Clinical and Experimental Dermatology. 36, 2, p. 142-8 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  57. Published

    Homoplasmy of the G7444A mtDNA and heterozygosity of the GJB2 c.35delG mutations in a family with hearing loss

    Kokotas, H., Grigoriadou, M., Li, Y., Lodahl, M., Rendtorff, N. D., Gyftodimou, Y., Korres, G. S., Ferekidou, E., Kandiloros, D., Korres, S., Tranebjærg, L., Guan, M-X. & Petersen, M. B., 1 Jan 2011, In : International Journal of Pediatric Otorhinolaryngology. 75, 1, p. 89-94 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  58. Published

    Genetic testing and common disorders in a public health framework: how to assess relevance and possibilities. Background Document to the ESHG recommendations on genetic testing and common disorders

    Becker, F., van El, C. G., Ibarreta, D., Zika, E., Hogarth, S., Borry, P., Cambon-Thomsen, A., Cassiman, J. J., Evers-Kiebooms, G., Hodgson, S., Janssens, A. C. J. W., Kaariainen, H., Krawczak, M., Kristoffersson, U., Lubinski, J., Patch, C., Penchaszadeh, V. B., Read, A., Rogowski, W., Sequeiros, J., Tranebjaerg, L., van Langen, I. M., Wallace, H., Zimmern, R., Schmidtke, J. & Cornel, M. C., 2011, In : European Journal of Human Genetics. 19 Suppl 1, p. S6-44

    Research output: Contribution to journalJournal articleResearchpeer-review

  59. Published

    Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

    Rendtorff, N. D., Lodahl, M., Boulahbel, H., Johansen, I. R., Pandya, A., Welch, K. O., Norris, V. W., Arnos, K. S., Bitner-Glindzicz, M., Emery, S. B., Mets, M. B., Fagerheim, T., Eriksson, K., Hansen, L., Bruhn, H., Möller, C., Lindholm, S., Ensgaard, S., Lesperance, M. M. & Tranebjaerg, L., 2011, In : American Journal of Medical Genetics. Part A. 155A, 6, p. 1298-313 16 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

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