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BørneUngeKlinikken - en del af Københavns Universitetshospital
  1. 2019
  2. Udgivet

    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, I : European journal of human genetics : EJHG. 27, 6, s. 994-996 3 s.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. E-pub ahead of print

    LISTERIA MENINGITIS IN DANISH CHILDREN 2000-2017: A Rare Event Even in a Country With High Rates of Invasive Listeriosis

    Vissing, N. H., Kristensen, K., Mønster, M. B., Møller, F. T., Knudsen, J. D., Poulsen, A., Ethelberg, S. & Nygaard, U., 15 maj 2019, I : The Pediatric infectious disease journal.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Udgivet

    Psychotropic Medication Use in Parents of Children Diagnosed With Cancer

    Salem, H., Andersen, E. W., Dalton, S. O., Schmiegelow, K., Winther, J. F., Lichtenthal, W. G., Johansen, C. & Bidstrup, P. E., maj 2019, I : Pediatrics. 143, 5

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    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., 13 mar. 2019, I : Scandinavian Journal of Caring Sciences.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  9. Udgivet
  10. Udgivet
  11. Accepteret/In press

    Postnatal germ cell development in cryptorchid boys

    Dong, L., Hildorf, S., Clasen-Linde, E., Cortes, D., Kvist, K., Thorup, J. M. & Andersen, CY., 12 feb. 2019, (Accepteret/In press) I : Asian Journal of Andrology.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  12. Udgivet

    Atrial standstill presenting as cerebral infarction in a 7-year-old girl

    Ahnfeldt, A. M., de Knegt, V. E., Reimers, J. I. & Børresen, M. L., 4 feb. 2019, I : SAGE Open Medical Case Reports. 7, s. 2050313X19827735

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  13. E-pub ahead of print
  14. Udgivet

    Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

    Liu, Y., Schubert, J., Sonnenberg, L., Helbig, K. L., Hoei-Hansen, C. E., Koko, M., Rannap, M., Lauxmann, S., Huq, M., Schneider, M. C., Johannesen, K. M., Kurlemann, G., Gardella, E., Becker, F., Weber, Y. G., Benda, J., Møller, R. S. & Lerche, H., 1 feb. 2019, I : Brain : a journal of neurology. 142, 2, s. 376-390 15 s.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  15. Udgivet

    Higher Birthweight and Maternal Pre-pregnancy BMI Persist with Obesity Association at Age 9 in High Risk Latino Children

    Kjaer, T. W., Faurholt-Jepsen, D., Medrano, R., Elwan, D., Mehta, K., Christensen, V. B. & Wojcicki, J. M., feb. 2019, I : Journal of Immigrant and Minority Health. 21, 1, s. 89-97 9 s.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  16. Udgivet

    Short individualised treatment of bone and joint infections in Danish children

    Nielsen, A. B., Nygaard, U., Hoffmann, T. & Kristensen, K., feb. 2019, I : Archives of Disease in Childhood. 104, 1, s. 205-206

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  17. Udgivet

    The landscape of epilepsy-related GATOR1 variants

    Baldassari, S., Picard, F., Verbeek, N. E., van Kempen, M., Brilstra, E. H., Lesca, G., Conti, V., Guerrini, R., Bisulli, F., Licchetta, L., Pippucci, T., Tinuper, P., Hirsch, E., de Saint Martin, A., Chelly, J., Rudolf, G., Chipaux, M., Ferrand-Sorbets, S., Dorfmüller, G., Sisodiya, S., Balestrini, S., Schoeler, N., Hernandez-Hernandez, L., Krithika, S., Oegema, R., Hagebeuk, E., Gunning, B., Deckers, C., Berghuis, B., Wegner, I., Niks, E., Jansen, F. E., Braun, K., de Jong, D., Rubboli, G., Talvik, I., Sander, V., Uldall, P., Jacquemont, M-L., Nava, C., Leguern, E., Julia, S., Gambardella, A., d'Orsi, G., Crichiutti, G., Faivre, L., Darmency, V., Benova, B., Brandt, C. & Møller, R. S., feb. 2019, I : Genetics in medicine : official journal of the American College of Medical Genetics. 21, 2, s. 398-408 11 s.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Low burden of minimal residual disease prior to transplantation in children with very high risk acute lymphoblastic leukaemia: The NOPHO ALL2008 experience

    Ifversen, M., Turkiewicz, D., Marquart, H. V., Winiarski, J., Buechner, J., Mellgren, K., Arvidson, J., Rascon, J., Körgvee, L-T., Madsen, H. O., Abrahamsson, J., Lund, B., Jonsson, O. G., Heilmann, C., Heyman, M., Schmiegelow, K. & Vettenranta, K., 24 jan. 2019, I : British Journal of Haematology.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  20. E-pub ahead of print

    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., 7 jan. 2019, I : Cleft Palate-Craniofacial Journal. s. e-pub

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  21. Udgivet

    Electromagnetic source imaging in presurgical workup of patients with epilepsy: A prospective study

    Duez, L., Tankisi, H., Hansen, P. O., Sidenius, P., Sabers, A., Pinborg, L. H., Fabricius, M., Rásonyi, G., Rubboli, G., Pedersen, B., Leffers, A-M., Uldall, P., Jespersen, B., Brennum, J., Henriksen, O. M., Fuglsang-Frederiksen, A. & Beniczky, S., 4 jan. 2019, I : Neurology.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  22. Udgivet

    Sperm DNA Integrity is Unaffected by Thiopurine Treatment in Men With Inflammatory Bowel Disease

    Grosen, A., Nersting, J., Bungum, M., Christensen, L. A., Schmiegelow, K., Spanò, M., Julsgaard, M., Cordelli, E., Leter, G., Larsen, P. B., Hvas, C. L. & Kelsen, J., 1 jan. 2019, I : Journal of Crohn's & colitis. 13, 1, s. 3-11 9 s.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  23. Udgivet

    Hearing Status in Survivors of Childhood Acute Myeloid Leukemia Treated With Chemotherapy Only: A NOPHO-AML Study

    Nordic Society of Pediatric Hematology and Oncology (NOPHO), jan. 2019, I : Journal of Pediatric Hematology/Oncology. 41, 1, s. e12-e17

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  24. Udgivet

    Insulin-dependent diabetes: A chronic complication to acute pancreatitis in childhood acute lymphoblastic leukemia

    Wolthers, B. O., Mogensen, P. R., Frandsen, T. L., Abrahamsson, J., Behrendtz, M., Heyman, M., Lohi, O., Norén-Nyström, U., Ruud, E. & Schmiegelow, K., jan. 2019, I : Pediatric Blood & Cancer. 66, 1, s. e27437

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  25. Udgivet

    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, I : Clinical Dysmorphology. 28, 1, s. 41-45 5 s.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  26. Udgivet

    Pediatric Transthoracic Cardiac Vector Flow Imaging - A Preliminary Pictorial Study

    Hansen, K. L., Juul, K., Møller-Sørensen, H., Nilsson, J. C., Jensen, J. A. & Nielsen, M. B., jan. 2019, I : Ultrasound International Open. 5, 1, s. E20-E26

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  27. E-pub ahead of print
  28. E-pub ahead of print
  29. Udgivet

    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, I : European Journal of Medical Genetics. 62, 2, s. 96-96

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  30. E-pub ahead of print
  31. E-pub ahead of print

    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., 2019, I : Pediatric Infectious Disease Journal. s. Epub

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  32. E-pub ahead of print

    Children with dyskinetic cerebral palsy are severely affected as compared to bilateral spastic cerebral palsy

    Préel, M., Rackauskaite, G., Larsen, M. L., Laursen, B., Lorentzen, J., Born, A. P., Langhoff-Roos, J., Uldall, P. & Hoei-Hansen, C. E., 2019, I : Acta paediatrica.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  33. Udgivet

    Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature

    Schönewolf-Greulich, B., Bisgaard, A-M., Møller, R. S., Dunø, M., Brøndum-Nielsen, K., Kaur, S., Van Bergen, N. J., Lunke, S., Eggers, S., Jespersgaard, C., Christodoulou, J. & Tümer, Z., 2019, I : Clinical Genetics. 95, 2, s. 221-230

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

  34. Udgivet
  35. Udgivet
  36. Udgivet
  37. E-pub ahead of print

    Hematopoietic Stem Cell Transplantation as Treatment for Patients with DOCK8 Deficiency

    Inborn Errors Working Party of the European Group for Blood and Marrow Transplantation and the European Society for Primary Immunodeficiencies, 2019, I : The journal of allergy and clinical immunology. In practice. s. epub

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  38. E-pub ahead of print
  39. E-pub ahead of print

    Long-term health outcomes in survivors of childhood AML treated with allogeneic HSCT: a NOPHO-AML Study

    Nordic Society of Pediatric Hematology and Oncology (NOPHO), 2019, I : Bone Marrow Transplantation. s. epub

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  40. E-pub ahead of print

    Minimal residual disease quantification by flow cytometry provides reliable risk stratification in T-cell acute lymphoblastic leukemia

    Modvig, S., Madsen, H. O., Siitonen, S. M., Rosthøj, S., Tierens, A., Juvonen, V., Osnes, L. T. N., Vålerhaugen, H., Hultdin, M., Thörn, I., Matuzeviciene, R., Stoskus, M., Marincevic, M., Fogelstrand, L., Lilleorg, A., Toft, N., Jónsson, O. G., Pruunsild, K., Vaitkeviciene, G., Vettenranta, K., Lund, B., Abrahamsson, J., Schmiegelow, K. & Marquart, H. V., 2019, I : Leukemia.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  41. Udgivet

    Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

    Schönewolf-Greulich, B., Bisgaard, A-M., Dunø, M., Jespersgaard, C., Rokkjaer, M., Hansen, L. K., Tsoutsou, E., Sofokleous, C., Topcu, M., Kaur, S., Van Bergen, N. J., Brøndum-Nielsen, K., Larsen, M. J., Sørensen, K. P., Christodoulou, J., Fagerberg, C. R. & Tümer, Z., 2019, I : Clinical Genetics. 95, 3, s. 403-408

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  42. E-pub ahead of print

    Newborn screening for homocystinurias: recent recommendations versus current practice

    and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), 2019, I : Journal of Inherited Metabolic Disease.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  43. E-pub ahead of print

    OK-432 Treatment of Early Fetal Chylothorax: Pregnancy Outcome and Long-Term Follow-Up of 14 Cases

    Nørgaard, L. N., Nygaard, U., Damm, J. A., Esbjørn, B. H., Pedersen, M. M. A., Rottbøll, A., Jørgensen, C. & Sundberg, K., 2019, I : Fetal Diagnosis and Therapy. s. e-pub

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  44. E-pub ahead of print

    Pediatric Candidemia Epidemiology and Morbidities: A Nationwide Cohort

    Lausch, K. R., Dungu, K. H. S., Callesen, M. T., Schrøder, H., Rosthøj, S., Poulsen, A., Østergaard, L., Mortensen, K. L., Storgaard, M., Schønheyder, H. C., Søgaard, M. & Arendrup, M. C., 2019, I : The Pediatric infectious disease journal. s. e-pub

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Posterior reversible encephalopathy syndrome in children with acute lymphoblastic leukemia: Clinical characteristics, risk factors, course, and outcome of disease

    Anastasopoulou, S., Eriksson, M. A., Heyman, M., Wang, C., Niinimäki, R., Mikkel, S., Vaitkevičienė, G. E., Johannsdottir, I. M., Myrberg, I. H., Jonsson, O. G., Als-Nielsen, B., Schmiegelow, K., Banerjee, J., Harila-Saari, A. & Ranta, S., 2019, I : Pediatric Blood & Cancer. s. e27594

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  47. E-pub ahead of print

    Time to Full Enteral Feeding for Very Low-Birth-Weight Infants Varies Markedly Among Hospitals Worldwide But May Not Be Associated With Incidence of Necrotizing Enterocolitis: The NEOMUNE-NeoNutriNet Cohort Study

    de Waard, M., Li, Y., Zhu, Y., Ayede, A. I., Berrington, J., Bloomfield, F. H., Busari, O. O., Cormack, B. E., Embleton, N. D., van Goudoever, J. B., Greisen, G., He, Z., Huang, Y., Li, X., Lin, H-C., Mei, J., Meier, P. P., Nie, C., Patel, A. L., Ritz, C., Sangild, P. T., Skeath, T., Simmer, K., Tongo, O. O., Uhlenfeldt, S. S., Ye, S., Ye, X., Zhang, C. & Zhou, P., 2019, I : Journal of Parenteral and Enteral Nutrition.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  48. E-pub ahead of print

    Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-a successful strategy for clinical research of rare diseases

    Additional individual contributors of the UCDC and the E-IMD consortium & Lund, A. M., 2019, I : Journal of Inherited Metabolic Disease.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  49. E-pub ahead of print

    Trypsin encoding PRSS1-PRSS2 variation influence the risk of asparaginase-associated pancreatitis in children with acute lymphoblastic leukemia: a Ponte di Legno toxicity working group report

    Wolthers, B. O., Frandsen, T. L., Patel, C. J., Abaji, R., Attarbaschi, A., Barzilai, S., Colombini, A., Escherich, G., Grosjean, M., Krajinovic, M., Larsen, E., Liang, D-C., Möricke, A., Rasmussen, K. K., Samarasinghe, S., Silverman, L. B., van der Sluis, I. M., Stanulla, M., Tulstrup, M., Yadav, R., Yang, W., Zapotocka, E., Gupta, R. & Schmiegelow, K., 2019, I : Haematologica. s. epub

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  50. 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., 2019, I : International Journal of Adolescent Medicine and Health. s. epub

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  51. 2018
  52. E-pub ahead of print

    Implementation of discharge recommendations in type 1 diabetes depends on specialist nurse follow-up

    Tiberg, I., Hansson, H., Hallström, I. & Carlsson, A., 18 dec. 2018, I : Acta paediatrica.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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