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BørneUngeKlinikken - en del af Københavns Universitetshospital
  1. 2020
  2. Udgivet

    Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

    Johnson, B. V., Kumar, R., Oishi, S., Alexander, S., Kasherman, M., Vega, M. S., Ivancevic, A., Gardner, A., Domingo, D., Corbett, M., Parnell, E., Yoon, S., Oh, T., Lines, M., Lefroy, H., Kini, U., Van Allen, M., Grønborg, S., Mercier, S., Küry, S., Bézieau, S., Pasquier, L., Raynaud, M., Afenjar, A., Billette de Villemeur, T., Keren, B., Désir, J., Van Maldergem, L., Marangoni, M., Dikow, N., Koolen, D. A., VanHasselt, P. M., Weiss, M., Zwijnenburg, P., Sa, J., Reis, C. F., López-Otín, C., Santiago-Fernández, O., Fernández-Jaén, A., Rauch, A., Steindl, K., Joset, P., Goldstein, A., Madan-Khetarpal, S., Infante, E., Zackai, E., Mcdougall, C., Narayanan, V., Ramsey, K., Mercimek-Andrews, S. & Undiagnosed Diseases Network, 15 jan. 2020, I : Biological Psychiatry. 87, 2, s. 100-112 13 s.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. E-pub ahead of print
  4. Udgivet

    Asparaginase-Associated Pancreatitis in Acute Lymphoblastic Leukemia: Results From the NOPHO ALL2008 Treatment of Patients 1-45 Years of Age

    Rank, C. U., Wolthers, B. O., Grell, K., Albertsen, B. K., Frandsen, T. L., Overgaard, U. M., Toft, N., Nielsen, O. J., Wehner, P. S., Harila-Saari, A., Heyman, M. M., Malmros, J., Abrahamsson, J., Norén-Nyström, U., Tomaszewska-Toporska, B., Lund, B., Jarvis, K. B., Quist-Paulsen, P., Vaitkevičienė, G. E., Griškevičius, L., Taskinen, M., Wartiovaara-Kautto, U., Lepik, K., Punab, M., Jónsson, Ó. G. & Schmiegelow, K., 1 jan. 2020, I : Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 38, 2, s. 145-154 10 s.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  5. Udgivet

    Danish expanded newborn screening is a successful preventive public health programme

    Lund, A., Wibrand, F., Skogstrand, K., Cohen, A., Christensen, M., Jäpelt, R. B., Dunø, M., Skovby, F., Nørgaard-Pedersen, B., Gregersen, N., Andresen, B. S., Olsen, R. K. J. & Hougaard, D., jan. 2020, I : Danish Medical Journal. 67, 1

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  6. E-pub ahead of print
  7. E-pub ahead of print

    Amikacin liposome inhalation suspension for chronic Pseudomonas aeruginosa infection in cystic fibrosis

    Bilton, D., Pressler, T., Fajac, I., Clancy, J. P., Sands, D., Minic, P., Cipolli, M., Galeva, I., Solé, A., Quittner, A. L., Liu, K., McGinnis, J. P., Eagle, G., Gupta, R., Konstan, M. W. & CLEAR-108 Study Group, 2020, I : Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  8. E-pub ahead of print
  9. E-pub ahead of print

    Antisense oligonucleotide eluforsen is safe and improves respiratory symptoms in F508DEL cystic fibrosis

    Drevinek, P., Pressler, T., Cipolli, M., De Boeck, K., Schwarz, C., Bouisset, F., Boff, M., Henig, N., Paquette-Lamontagne, N., Montgomery, S., Perquin, J., Tomkinson, N., den Hollander, W. & Elborn, J. S., 2020, I : Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  10. E-pub ahead of print
  11. Udgivet
  12. Udgivet

    BCG Vaccination at Birth and Rate of Hospitalization for Infection Until 15 Months of Age in Danish Children: A Randomized Clinical Multicenter Trial

    Stensballe, L. G., Ravn, H., Birk, N. M., Kjærgaard, J., Nissen, T. N., Pihl, G. T., Thøstesen, L. M., Greisen, G., Jeppesen, D. L., Kofoed, P-E., Pryds, O., Sørup, S., Aaby, P. & Benn, C. S., 2020, I : Pediatric Infectious Disease Journal.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  13. E-pub ahead of print
  14. E-pub ahead of print

    Cystic fibrosis newborn screening in Denmark: Experience from the first 2 years

    Skov, M., Baekvad-Hansen, M., Hougaard, D. M., Skogstrand, K., Lund, A. M., Pressler, T., Olesen, H. V. & Duno, M., 2020, I : Pediatric Pulmonology.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  15. E-pub ahead of print

    Detection of meticillin-resistant Staphylococcus aureus and carbapenemase-producing Enterobacteriaceae in Danish emergency departments - evaluation of national screening guidelines

    Skjøt-Arkil, H., Mogensen, C. B., Lassen, A. T., Johansen, I. S., Chen, M., Petersen, P., Andersen, K. V., Ellermann-Eriksen, S., Møller, J. M., Ludwig, M., Fuglsang-Damgaard, D., Nielsen, F. E., Petersen, D. B., Jensen, U. S. & Rosenvinge, F. S., 2020, I : The Journal of hospital infection.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  16. E-pub ahead of print

    End-of-life communication: a nationwide study of bereaved parents' perceptions

    Lykke, C., Ekholm, O., Schmiegelow, K., Olsen, M. & Sjøgren, P., 2020, I : BMJ Supportive and Palliative Care. s. epub

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  17. Udgivet

    European Respiratory Society guideline on long-term management of children with bronchopulmonary dysplasia

    Duijts, L., van Meel, E. R., Moschino, L., Baraldi, E., Barnhoorn, M., Bramer, W. M., Bolton, C. E., Boyd, J., Buchvald, F., Del Cerro, M. J., Colin, A. A., Ersu, R., Greenough, A., Gremmen, C., Halvorsen, T., Kamphuis, J., Kotecha, S., Rooney-Otero, K., Schulzke, S., Wilson, A., Rigau, D., Morgan, R. L., Tonia, T., Roehr, C. C. & Pijnenburg, M. W., 2020, I : European Respiratory Journal. Supplement. 55, 1, s. 1900788 17 s.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  18. E-pub ahead of print

    Flow cytometric detection of leukemic blasts in cerebrospinal fluid predicts risk of relapse in childhood acute lymphoblastic leukemia: a Nordic Society of Pediatric Hematology and Oncology study

    Nordic Society of Pediatric Hematology and Oncology (NOPHO), 2020, I : Leukemia.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  19. E-pub ahead of print
  20. E-pub ahead of print

    Growth and puberty in juvenile dermatomyositis: a longitudinal cohort study

    Paediatric Rheumatology International Trials Organisation (PRINTO), 2020, I : Arthritis Care & Research.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  21. Udgivet

    Hospitalizations for infections by age and sex: register-based study of Danish children 1977-2014

    Larsen, J. W. W., Sørensen, A. F., Jensen, A. K. G., Poulsen, A., Gehrt, L., Benn, C. S. & Sørup, S., 2020, I : Infectious diseases (London, England). 52, 2, s. 97-106 10 s.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  22. E-pub ahead of print
  23. E-pub ahead of print
  24. E-pub ahead of print

    Increased risk of sudden death in untreated Primary Carnitine Deficiency

    Rasmussen, J., Dunø, M., Lund, A. M., Steuerwald, U., Hansen, S-H., Joensen, H. D., Køber, L. & Nielsen, O. W., 2020, I : Journal of Inherited Metabolic Disease.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  25. E-pub ahead of print

    Infectious diseases detected by screening after arrival to Denmark in internationally adopted children

    Nielsen, A. V., Kjaergaard, J., Pedersen, T. M., Helmuth, I. G., Nygaard, U., Nielsen, H. W., Christensen, V. B., Kurtzhals, J. A. L. & Poulsen, A., 2020, I : Acta paediatrica. s. epub

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  26. E-pub ahead of print

    Introduction to the cerebellar mutism syndrome

    Grønbæk, J., Keating, R., Wisoff, J. & Juhler, M., 2020, I : Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery.

    Publikation: Bidrag til tidsskriftKommentar/debatForskningpeer review

  27. Udgivet

    Latent tuberculosis infection among minor asylum seekers in Denmark

    Ahmad, B. B., Kristensen, K. L., Glenthøj, J. P., Poulsen, A., Bryld, A-G., Huber, F. G., Andersen, E. M. & Ravn, P., 2020, I : European Respiratory Journal. Supplement. 55, 1, 1901688;.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  28. E-pub ahead of print

    Leptin, adiponectin, and their ratio as markers of insulin resistance and cardiometabolic risk in childhood obesity

    Frithioff-Bøjsøe, C., Lund, M. A. V., Lausten-Thomsen, U., Hedley, P. L., Pedersen, O., Christiansen, M., Baker, J. L., Hansen, T. & Holm, J-C., 2020, I : Pediatric Diabetes.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  29. E-pub ahead of print

    Long-term outcomes in juvenile idiopathic arthritis: 18 years of follow-up in the population-based Nordic Juvenile Idiopathic Arthritis (JIA) cohort

    Nordic Study Group of Pediatric Rheumatology (NoSPeR), 2020, I : Arthritis Care & Research.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  30. E-pub ahead of print

    Long-term Outcomes of Temporomandibular Joints in Juvenile Idiopathic Arthritis

    Glerup, M., Stoustrup, P., Matzen, L., Rypdal, V., Nordal, E., Frid, P., Arnstad, E. D., Rygg, M., Thorarensen, O., Ekelund, M., Berntson, L., Fasth, A., Nilsson, H., Peltoniemi, S., Aalto, K., Arte, S., Toftedal, P., Nielsen, S., Kreiborg, S., Herlin, T. & Pedersen, T. K., 2020, I : Journal of Rheumatology.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  31. Udgivet

    Low incidence of hemorrhagic cystitis following ex vivo T-cell depleted haploidentical hematopoietic cell transplantation in children

    Jepsen, C., Turkiewicz, D., Ifversen, M., Heilmann, C., Toporski, J., Dykes, J., Mellgren, K. & Pronk, C. J., 2020, I : Bone Marrow Transplantation. 55, 1, s. 207-214 8 s.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  32. E-pub ahead of print

    Neurodevelopment at 2 years corrected age among Vietnamese preterm infants

    Do, C. H. T., Kruse, A. Y., Wills, B., Sabanathan, S., Clapham, H., Pedersen, F. K., Pham, T. N., Vu, P. M. & Børresen, M. L., 2020, I : Archives of Disease in Childhood. s. epub

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  33. E-pub ahead of print

    Neurologic disorders in long-term survivors of neuroblastoma - a population-based cohort study within the Adult Life after Childhood Cancer in Scandinavia (ALiCCS) research program

    Norsker, F. N., Rechnitzer, C., Andersen, E. W., Linnet, K. M., Kenborg, L., Holmqvist, A. S., Tryggvadottir, L., Madanat-Harjuoja, L-M., Øra, I., Thorarinsdottir, H. K., Vettenranta, K., Bautz, A., Schrøder, H., Hasle, H. & Winther, J. F., 2020, I : Acta oncologica (Stockholm, Sweden). s. 1-7 7 s.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  34. E-pub ahead of print

    One-year outcomes in a multicentre cohort study of incident rare diffuse parenchymal lung disease in children (ChILD)

    ChILDEU study group & Buchvald, F., 2020, I : Thorax.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  35. E-pub ahead of print

    Parental occupational organic dust exposure and selected childhood cancers in Denmark 1968-2016

    Volk, J., Heck, J. E., Schmiegelow, K. & Hansen, J., 2020, I : Cancer epidemiology. 65, s. 101667

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  36. E-pub ahead of print
  37. E-pub ahead of print

    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., 2020, I : European Journal of Medical Genetics. s. Epub

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  38. Udgivet

    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, I : Coronary Artery Disease. 29, 1, s. 1-9 9 s.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  39. Udgivet

    Primary ciliary dyskinesia patients have the same P. aeruginosa clone in sinuses and lungs

    Arndal, E., Johansen, H. K., Haagensen, J. A. J., Bartell, J. A., Marvig, R. L., Alanin, M., Aanæs, K., Høiby, N., Nielsen, K. G., Backer, V. & von Buchwald, C., 2020, I : European Respiratory Journal. Supplement. s. e1901472

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  40. E-pub ahead of print

    Randomization of Left-right Asymmetry and Congenital Heart Defects: The Role of DNAH5 in Humans and Mice

    Nöthe-Menchen, T., Wallmeier, J., Pennekamp, P., Höben, I. M., Olbrich, H., Loges, N. T., Raidt, J., Dougherty, G. W., Hjeij, R., Dworniczak, B., Omran, H. & Nielsen, K. G., 2020, I : Circulation. Genomic and precision medicine.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  41. E-pub ahead of print

    SPEF2- and HYDIN-mutant Cilia Lack the Central Pair Associated Protein SPEF2 Aiding PCD Diagnostics

    Cindrić, S., Dougherty, G. W., Olbrich, H., Hjeij, R., Loges, N. T., Amirav, I., Philipsen, M. C., Marthin, J. K., Nielsen, K. G., Sutharsan, S., Raidt, J., Werner, C., Pennekamp, P., Dworniczak, B. & Omran, H., 2020, I : American Journal of Respiratory Cell and Molecular Biology.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  42. E-pub ahead of print

    T-cell acute lymphoblastic leukemia in patients 1-45 years treated with the pediatric NOPHO ALL2008 protocol

    Quist-Paulsen, P., Toft, N., Heyman, M., Abrahamsson, J., Griškevičius, L., Hallböök, H., Jónsson, Ó. G., Palk, K., Vaitkeviciene, G., Vettenranta, K., Åsberg, A., Frandsen, T. L., Opdahl, S., Marquart, H. V., Siitonen, S., Osnes, L. T., Hultdin, M., Overgaard, U. M., Wartiovaara-Kautto, U. & Schmiegelow, K., 2020, I : Leukemia.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  43. Udgivet

    The Controversies and Difficulties of Diagnosing Primary Ciliary Dyskinesia

    Shoemark, A., Rubbo, B., Haarman, E., Hirst, R. A., Hogg, C., Jackson, C. L., Nielsen, K. G., Papon, J-F., Robinson, P., Walker, W. T. & Lucas, J. S., 2020, I : American Journal of Respiratory and Critical Care Medicine. 201, 1, s. 120-122 3 s.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  44. E-pub ahead of print

    The impact of chest computed tomography and chest radiography on clinical management of cystic fibrosis lung disease

    Bortoluzzi, C. F., Pontello, E., Pintani, E., de Winter-de Groot, K. M., D'Orazio, C., Assael, B. M., Hunink, M. G. M., Tiddens, H. A. W. M., Caudri, D., CF Clinics Study Group & Pressler, T., 2020, I : Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  45. E-pub ahead of print
  46. E-pub ahead of print

    To Bubble or Not? A Systematic Review of Bubble Continuous Positive Airway Pressure in Children in Low- and Middle-Income Countries

    Nørgaard, M., Stagstrup, C., Lund, S. & Poulsen, A., 2020, I : Journal of Tropical Pediatrics. s. epub

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  47. E-pub ahead of print
  48. E-pub ahead of print

    Youth friendly communication in a transition clinic aimed at adolescents with chronic illness

    Hanghøj, S., Boisen, K. A., Schmiegelow, K. & Hølge-Hazelton, B., 2020, I : International Journal of Adolescent Medicine and Health. s. epub 20170083.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  49. 2019
  50. E-pub ahead of print
  51. Udgivet
  52. Udgivet

    Accessibility, utilisation and acceptability of a county-based home care service for sick children in Sweden

    Castor, C., Hallström, I. K., Landgren, K. & Hansson, H., dec. 2019, I : Scandinavian Journal of Caring Sciences. 33, 4, s. 824-832

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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