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Rigshospitalet - a part of Copenhagen University Hospital
  1. 2021
  2. Published

    Facial Asymmetry in Nonsyndromic and Muenke Syndrome-Associated Unicoronal Synostosis: A 3-Dimensional Study Based on Facial Surfaces Extracted From CT Scans

    Öwall, L., Darvann, T. A., Hove, H. B., Heliövaara, A., Dunø, M., Kreiborg, S. & Hermann, N. V., Jun 2021, In: Cleft Palate-Craniofacial Journal. 58, 6, p. 687-696 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. 2020
  4. Published

    Bone geometry, density, and microarchitecture in the distal radius and tibia in adults with Marfan Syndrome assessed by HR-pQCT

    Folkestad, L., Groth, K. A., Shanbhogue, V., Hove, H., Kyhl, K., Østergaard, J. R., Jørgensen, N. R., Andersen, N. H. & Gravholt, C. H., Dec 2020, In: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 35, 12, p. 2335-2344 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Published

    Description of a family with X-linked oculo-auriculo-vertebral spectrum associated with polyalanine tract expansion in ZIC3

    Trimouille, A., Tingaud-Sequeira, A., Lacombe, D., Duelund Hjortshøj, T., Kreiborg, S., Buciek Hove, H. & Rooryck, C., Oct 2020, In: Clinical Genetics. 98, 4, p. 384-389 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  6. Published
  7. Published

    Forming and ending marital or cohabiting relationships in a Danish population-based cohort of individuals with neurofibromatosis 1

    Kjaer, T. K., Andersen, E. W., Olsen, M., Kenborg, L., Bidstrup, P. E., Doser, K., Hove, H., Østergaard, J. R., Johansen, C., Sørensen, S. A., Mulvihill, J. J., Winther, J. F. & Dalton, S. O., Aug 2020, In: European journal of human genetics : EJHG. 28, 8, p. 1028-1033 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  8. Published

    Unique skeletal manifestations in patients with Primrose syndrome

    Arora, V., Leon, E., Diaz, J., Hove, H. B., Carvalho, D. R., Kurosawa, K., Nishimura, N., Nishimura, G., Saxena, R., Ferreira, C., Puri, R. D. & Verma, I. C., Aug 2020, In: European Journal of Medical Genetics. 63, 8, p. 103967

    Research output: Contribution to journalJournal articleResearchpeer-review

  9. Published

    Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study

    Doser, K., Andersen, E. W., Kenborg, L., Dalton, S. O., Jepsen, J. R. M., Krøyer, A., Østergaard, J., Hove, H., Sørensen, S. A., Johansen, C., Mulvihill, J., Winther, J. F. & Bidstrup, P. E., Jul 2020, In: American Journal of Medical Genetics. Part A. 182, 7, p. 1704-1715 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  10. Published

    Multisystem burden of neurofibromatosis 1 in Denmark: registry- and population-based rates of hospitalizations over the life span

    Kenborg, L., Duun-Henriksen, A. K., Dalton, S. O., Bidstrup, P. E., Doser, K., Rugbjerg, K., Pedersen, C., Krøyer, A., Johansen, C., Andersen, K. K., Østergaard, J. R., Hove, H., Sørensen, S. A., Riccardi, V. M., Mulvihill, J. J. & Winther, J. F., Jun 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22, 6, p. 1069-1078 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  11. Published

    Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia

    Bayat, A., Dunø, M., Kirchhoff, M., Jørgensen, F. S., Nishimura, G. & Hove, H. B., Jun 2020, In: Molecular Syndromology. 11, 2, p. 83-89 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  12. Published

    Primrose syndrome: Characterization of the phenotype in 42 patients

    Melis, D., Carvalho, D., Barbaro-Dieber, T., Espay, A. J., Gambello, M. J., Gener, B., Gerkes, E., Hitzert, M. M., Hove, H. B., Jansen, S., Jira, P. E., Lachlan, K., Menke, L. A., Narayanan, V., Ortiz, D., Overwater, E., Posmyk, R., Ramsey, K., Rossi, A., Sandoval, R. L., Stumpel, C., Stuurman, K. E., Cordeddu, V., Turnpenny, P., Strisciuglio, P., Tartaglia, M., Unger, S., Waters, T., Turnbull, C. & Hennekam, R. C., Jun 2020, In: Clinical Genetics. 97, 6, p. 890-901 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  13. Published

    Defining the clinical phenotype of Saul-Wilson syndrome

    Ferreira, C. R., Zein, W. M., Huryn, L. A., Merker, A., Berger, S. I., Wilson, W. G., Tiller, G. E., Wolfe, L. A., Merideth, M., Carvalho, D. R., Duker, A. L., Bratke, H., Haug, M. G., Rohena, L., Hove, H. B., Xia, Z-J., Ng, B. G., Freeze, H. H., Gabriel, M., Russi, A. H. S., Brick, L., Kozenko, M., Earl, D. L., Tham, E., Nishimura, G., Phillips, J. A., Gahl, W. A., Hamid, R., Jackson, A. P., Grigelioniene, G. & Bober, M. B., May 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22, 5, p. 857-866 10 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  14. Published

    Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations

    Graversen, L., Handrup, M. M., Irving, M., Hove, H., Diness, B. R., Risom, L., Svaneby, D., Aagaard, M. M., Vogel, I., Gjørup, H., Davidsen, M., Hellfritzsch, M. B., Lauridsen, E. & Gregersen, P. A., Feb 2020, In: European Journal of Medical Genetics. 63, 2, p. 103650

    Research output: Contribution to journalJournal articleResearchpeer-review

  15. Published

    The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

    Weiss, K., Lazar, H. P., Kurolap, A., Martinez, A. F., Paperna, T., Cohen, L., Smeland, M. F., Whalen, S., Heide, S., Keren, B., Terhal, P., Irving, M., Takaku, M., Roberts, J. D., Petrovich, R. M., Schrier Vergano, S. A., Kenney, A., Hove, H., DeChene, E., Quinonez, S. C., Colin, E., Ziegler, A., Rumple, M., Jain, M., Monteil, D., Roeder, E. R., Nugent, K., van Haeringen, A., Gambello, M., Santani, A., Medne, L., Krock, B., Skraban, C. M., Zackai, E. H., Dubbs, H. A., Smol, T., Ghoumid, J., Parker, M. J., Wright, M., Turnpenny, P., Clayton-Smith, J., Metcalfe, K., Kurumizaka, H., Gelb, B. D., Baris Feldman, H., Campeau, P. M., Muenke, M., Wade, P. A. & Lachlan, K., Feb 2020, In: Genetics in medicine : official journal of the American College of Medical Genetics. 22, 2, p. 389-397 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  16. Published

    Phenotypic variability in Muenke syndrome-observations from five Danish families

    Öwall, L., Kreiborg, S., Dunø, M., Hermann, N. V., Darvann, T. A. & Hove, H., 2020, In: Coronary Artery Disease. 29, 1, p. 1-9

    Research output: Contribution to journalJournal articleResearchpeer-review

  17. Published

    Validity of First-Time Diagnoses of Inherited Ichthyosis in the Danish National Patient Registry and the Danish Pathology Registry

    Kristensen, M. H., Schmidt, S. A. J., Kibsgaard, L., Hove, H., Sommerlund, M. & Koppelhus, U., 2020, In: Clinical Epidemiology. 12, p. 651-657 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  18. 2019
  19. Published

    Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

    Hepp, N., Frederiksen, A. L., Dunø, M., Jørgensen, N. R., Langdahl, B., Hove, H. B., Vedtofte, P., Hindsø, K. & Jensen, J-E. B., Dec 2019, In: Calcified Tissue International. 105, 6, p. 681-686 6 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  20. Published

    Correction: Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

    Doser, K., Kenborg, L., Andersen, E. W., Bidstrup, P. E., Kroyer, A., Hove, H., Østergaard, J., Sørensen, S. A., Johansen, C., Mulvihill, J., Winther, J. F. & Dalton, S. O., Jun 2019, 3 p.

    Research output: Other contributionResearch

  21. Published

    Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

    Grímsdóttir, S., Hove, H. B., Kreiborg, S., Ek, J., Johansen, A., Darvann, T. A. & Hermann, N. V., Jan 2019, In: Clinical Dysmorphology. 28, 1, p. 41-45 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  22. Published

    Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

    Luyckx, I., Bolar, N., Diness, B. R., Hove, H. B., Verstraeten, A. & Loeys, B. L., 2019, In: European Journal of Medical Genetics. 62, 2, p. 96-96 1 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  23. Published

    Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

    Doser, K., Kenborg, L., Andersen, E. W., Bidstrup, P. E., Kroyer, A., Hove, H., Østergaard, J., Sørensen, S. A., Johansen, C., Mulvihill, J., Winther, J. F. & Dalton, S. O., 2019, In: European journal of human genetics : EJHG. 27, 6, p. 857-868 12 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  24. Published

    Spatially Detailed 3D Quantification of Improved Facial Symmetry After Surgery in Children With Unicoronal Synostosis

    Öwall, L., Darvann, T. A., Hove, H. B., Bøgeskov, L., Kreiborg, S. & Hermann, N. V., 2019, In: Cleft Palate-Craniofacial Journal. 56, 7, p. 918-928 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  25. 2018
  26. Published

    A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation

    Ferreira, C. R., Xia, Z-J., Clément, A., Parry, D. A., Davids, M., Taylan, F., Sharma, P., Turgeon, C. T., Blanco-Sánchez, B., Ng, B. G., Logan, C. V., Wolfe, L. A., Solomon, B. D., Cho, M. T., Douglas, G., Carvalho, D. R., Bratke, H., Haug, M. G., Phillips, J. B., Wegner, J., Tiemeyer, M., Aoki, K., Nordgren, A., Hammarsjö, A., Duker, A. L., Rohena, L., Hove, H. B., Ek, J., Adams, D., Tifft, C. J., Onyekweli, T., Weixel, T., Macnamara, E., Radtke, K., Powis, Z., Earl, D., Gabriel, M., Russi, A. H. S., Brick, L., Kozenko, M., Tham, E., Raymond, K. M., Phillips, J. A., Tiller, G. E., Wilson, W. G., Hamid, R., Malicdan, M. C. V., Nishimura, G., Grigelioniene, G., Jackson, A. & Undiagnosed Diseases Network, 4 Oct 2018, In: American Journal of Human Genetics. 103, 4, p. 553-567 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  27. Published

    Causes of Mortality in the Marfan Syndrome(from a Nationwide Register Study)

    Groth, K. A., Stochholm, K., Hove, H., Andersen, N. H. & Gravholt, C. H., 1 Oct 2018, In: The American journal of cardiology. 122, 7, p. 1231-1235 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  28. Published

    A study of familial Char syndrome involving the TFAP2B gene with a focus on facial shape characteristics

    Nyboe, D., Kreiborg, S., Darvann, T., Dunø, M., Nissen, K. R. & Hove, H. B., Jul 2018, In: Clinical Dysmorphology. 27, 3, p. 71-77 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  29. Published

    Biomechanical properties of the patellar tendon in children with heritable connective tissue disorders

    Jensen, J. K., Nygaard, R. H., Svensson, R. B., Hove, H. D., Magnusson, S. P., Kjær, M. & Couppé, C., Jul 2018, In: European Journal of Applied Physiology. 118, 7, p. 1301-1307 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  30. Published

    A complex phenotype in a family with a pathogenic SOX3 missense variant

    Jelsig, A. M., Diness, B. R., Kreiborg, S., Main, K. M., Larsen, V. A. & Hove, H., 2018, In: European Journal of Medical Genetics. 61, 3, p. 168-72

    Research output: Contribution to journalJournal articleResearchpeer-review

  31. Published

    Improvement of Facial Symmetry after Surgery in Children with Unilateral Coronal Synostosis (UCS) Analyzed by Spatially Detailed 3D Quantification.

    Öwall, B. L. C., Darvann, T. A., Hove, H. B., Hermann, N. V. & Kreiborg, S., 2018.

    Research output: Contribution to conferenceConference abstract for conferenceResearch

  32. 2017
  33. Published

    Prenatal diagnosis of autosomal recessive Robinow syndrome using 3D ultrasound

    Jeppesen, B. F., Hove, H. B., Kreiborg, S., Hermann, N. V., Darvann, T. A. & Jørgensen, F. S., Jul 2017, In: AACE clinical case reports. 5, 7, p. 1072-1076 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  34. Published

    En sjælden form for overvægt hos børn og unge

    Christensen, S. Ø., Holm, K. & Hove, H. B., 20 Feb 2017, In: Ugeskrift for Laeger. 179, 11, p. 985

    Research output: Contribution to journalJournal articleResearchpeer-review

  35. Published

    Aortic events in a nationwide Marfan syndrome cohort

    Groth, K. A., Stochholm, K., Hove, H., Kyhl, K., Gregersen, P. A., Vejlstrup, N., Østergaard, J. R., Gravholt, C. H. & Andersen, N. H., 2017, In: Clinical research in cardiology : official journal of the German Cardiac Society. 106, p. 105-112

    Research output: Contribution to journalJournal articleResearchpeer-review

  36. Published

    Spatially detailed 3D quantification of improvement of facial symmetry after surgery in children with Unilateral Coronal Synostosis (UCS).

    Öwall, B. L. C., Darvann, T. A., Larsen, P., Hove, H. B., Hermann, N. V. & Kreiborg, S., 2017.

    Research output: Contribution to conferenceConference abstract for conferenceResearch

  37. 2016
  38. Published

    Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis

    Boppudi, S., Bögershausen, N., Hove, H. B., Percin, E. F., Aslan, D., Dvorsky, R., Kayhan, G., Li, Y., Cursiefen, C., Tantcheva-Poor, I., Toft, P. B., Bartsch, O., Lissewski, C., Wieland, I., Jakubiczka, S., Wollnik, B., Ahmadian, M. R., Heindl, L. M. & Zenker, M., Oct 2016, In: Clinical Genetics. 90, 4, p. 334-42 9 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  39. Published

    Monozygotic twins presenting with isolated sagittal and bicoronal synostosis, respectively

    Hove, H. D., Dunø, M., Larsen, P. & Kreiborg, S., Apr 2016, In: Clinical Dysmorphology. 25, 2, p. 86-9 4 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  40. Published

    Facial Asymmetry in Children with Unicoronal Synostosis Who Have Undergone Craniofacial Reconstruction in Infancy

    Öwall, B. L. C., Darvann, T. A., Larsen, P., Hove, H. D., Hermann, N. V., Bøgeskov, L. & Kreiborg, S., 2016, In: Cleft Palate - Craniofacial Journal. 53, 4, p. 385-93

    Research output: Contribution to journalJournal articleResearchpeer-review

  41. 2015
  42. Published
  43. Published

    DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome

    White, J., Mazzeu, J. F., Hoischen, A., Jhangiani, S. N., Gambin, T., Alcino, M. C., Penney, S., Saraiva, J. M., Hove, H., Skovby, F., Kayserili, H., Estrella, E., Vulto-van Silfhout, A. T., Steehouwer, M., Muzny, D. M., Sutton, V. R., Gibbs, R. A., Lupski, J. R., Brunner, H. G., van Bon, B. W. M., Carvalho, C. M. B. & Baylor-Hopkins Center for Mendelian Genomics, 2 Apr 2015, In: American Journal of Human Genetics. 96, 4, p. 612-22 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  44. Published

    A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

    Terhal, P. A., Nievelstein, R. J. A. J., Verver, E. J. J., Topsakal, V., van Dommelen, P., Hoornaert, K., Le Merrer, M., Zankl, A., Simon, M. E. H., Smithson, S. F., Marcelis, C., Kerr, B., Clayton-Smith, J., Kinning, E., Mansour, S., Elmslie, F., Goodwin, L., van der Hout, A. H., Veenstra-Knol, H. E., Herkert, J. C., Lund, A. M., Hennekam, R. C. M., Mégarbané, A., Lees, M. M., Wilson, L. C., Male, A., Hurst, J., Alanay, Y., Annerén, G., Betz, R. C., Bongers, E. M. H. F., Cormier-Daire, V., Dieux, A., David, A., Elting, M. W., van den Ende, J., Green, A., van Hagen, J. M., Hertel, N. T., Holder-Espinasse, M., den Hollander, N., Homfray, T., Hove, H. D., Price, S., Raas-Rothschild, A., Rohrbach, M., Schroeter, B., Suri, M., Thompson, E. M., Tobias, E. S., Toutain, A., Vreeburg, M., Wakeling, E., Knoers, N. V., Coucke, P. & Mortier, G. R., Mar 2015, In: American Journal of Medical Genetics. Part A. 167, 3, p. 461-75 15 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  45. Published

    Familial craniosynostosis associated with a microdeletion involving the NFIA gene

    Nyboe, D., Kreiborg, S., Kirchhoff, E. M. & Hove, H. B., 24 Feb 2015, In: Clinical Dysmorphology. 24, 3, p. 109-12

    Research output: Contribution to journalJournal articleResearchpeer-review

  46. Published

    Prevalence, incidence, and age at diagnosis in Marfan Syndrome

    Groth, K., Hove, H., Kyhl, K., Folkestad, L., Gaustadnes, M., Vejlstrup, N., Stochholm, K., Østergaard, J. R., Andersen, N. & Gravholt, C. H., 2015, In: Orphanet Journal of Rare Diseases. 10, p. 153

    Research output: Contribution to journalJournal articleResearchpeer-review

  47. Published

    Using CT to validate measurement of facial asymmetry in surface scans of infants with unilateral coronal synostosis.

    Darvann, T. A., Öwall, B. L. C., Hermann, N. V., Larsen, P., Hove, H. B. & Kreiborg, S., 2015.

    Research output: Contribution to conferenceConference abstract for conferenceResearch

  48. 2014
  49. Published

    The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

    Marcos, S., Sarfati, J., Leroy, C., Fouveaut, C., Parent, P., Metz, C., Wolczynski, S., Gérard, M., Bieth, E., Kurtz, F., Verier-Mine, O., Perrin, L., Archambeaud, F., Cabrol, S., Rodien, P., Hove, H., Prescott, T., Lacombe, D., Christin-Maitre, S., Touraine, P., Hieronimus, S., Dewailly, D., Young, J., Pugeat, M., Hardelin, J-P. & Dodé, C., Oct 2014, In: The Journal of clinical endocrinology and metabolism. 99, 10, p. E2138-43

    Research output: Contribution to journalJournal articleResearchpeer-review

  50. Published

    Facial Asymmetry in Children with Unicoronal Synostosis Who Have Undergone Craniofacial Reconstruction in Infancy.

    Öwall, B. L. C., Darvann, T. A., Larsen, P., Hove, H. B., Hermann, N. V., Bøgeskov, L. & Kreiborg, S., 2014.

    Research output: Contribution to conferenceConference abstract for conferenceResearch

  51. 2013
  52. Published

    Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

    Avila, M., Kirchhoff, E. M., Marle, N., Hove, H. D., Chouchane, M., Thauvin-Robinet, C., Masurel, A., Mosca-Boidron, A-L., Callier, P., Mugneret, F., Kjaergaard, S. & Faivre, L., Jul 2013, In: American Journal of Medical Genetics. Part A. 161A, 7, p. 1594-8 5 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  53. Published

    The cardiac phenotype in patients with a CHD7 mutation

    Corsten-Janssen, N., Kerstjens-Frederikse, W. S., du Marchie Sarvaas, G. J., Baardman, M. E., Bakker, M. K., Bergman, J. E. H., Hove, H. D., Heimdal, K. R., Rustad, C. F., Hennekam, R. C. M., Hofstra, R. M. W., Hoefsloot, L. H., Van Ravenswaaij-Arts, C. M. A. & Kapusta, L., Jun 2013, In: Circulation. Cardiovascular genetics. 6, 3, p. 248-54 7 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  54. Published

    Børn med hypermobilitet

    Juul-Kristensen, B., Hove, H. D. & Remvig, L., 18 Mar 2013, Pædiatrisk Fysioterapi. Harboe, H. & Stegger, H. (eds.). 1. ed. Akademisk Forlag, p. 205-222

    Research output: Chapter in Book/Report/Conference proceedingBook chapterEducation

  55. Published

    Novel mutations including deletions of the entire OFD1 gene in 30 families with type 1 orofaciodigital syndrome: a study of the extensive clinical variability

    Bisschoff, I. J., Zeschnigk, C., Horn, D., Wellek, B., Rieß, A., Wessels, M., Willems, P., Jensen, P., Busche, A., Bekkebraten, J., Chopra, M., Hove, H. D., Evers, A. C. W., Heimdal, K., Kaiser, A-S., Kunstmann, E., Robinson, K. L., Linné, M., Martin, P., McGrath, J., Pradel, W., Prescott, K. E., Roesler, B., Rudolf, G., Siebers-Renelt, U., Tyshchenko, N., Wieczorek, D., Wolff, G., Dobyns, W. B. & Morris-Rosendahl, D. J., Jan 2013, In: Human Mutation. 34, 1, p. 237-47 11 p.

    Research output: Contribution to journalJournal articleResearchpeer-review

  56. Published

    Identification of six novel PTH1R mutations in families with a history of primary failure of tooth eruption

    Risom, L., Christoffersen, L., Daugaard-Jensen, J., Hove, H. D., Andersen, H. S., Andresen, B. S., Kreiborg, S. & Duno, M., 2013, In: P L o S One. 8, 9, p. e74601

    Research output: Contribution to journalJournal articleResearchpeer-review

  57. Published

    Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus

    Holman, S., Morgan, T., Baujat, G., Cormier-Daire, V., Cho, T-J., Lees, M., Samanich, J., Tapon, D., Hove, H. B., Hing, A., Hennekam, R. & Robertson, S., 2013, In: Clinical Genetics. 83, 3, p. 251-256

    Research output: Contribution to journalJournal articleResearchpeer-review

  58. 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

  59. 2012
  60. Published

    Crouzon syndrome associated with acanthosis nigricans: prenatal 2D and 3D ultrasound findings and postnatal 3D CT findings

    Nørgaard, P., Hagen, C. P., Hove, H., Dunø, M., Nissen, K. R., Kreiborg, S. & Jørgensen, F. S., 2012, In: Acta Radiologica Short Reports. 1, 4

    Research output: Contribution to journalJournal articleResearchpeer-review

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