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John Rosendahl Østergaard

  1. Published
  2. Published

    22q11-deletionssyndrom. / Olesen, Charlotte; Agergaard, Peter Juul; Boers, Maria Gregers Christiansen; Farholt, Stense; Heilman, Carsten J; Hvidkjaer, Lut; Kristensen, Kurt; Lauritsen, Marlene B; Lunding, Jytte; Nielsen, Bent W; Skovby, Flemming; Thrane, Nana; Vogel, Ida; Østergaard, John R.

    In: Ugeskrift for Laeger, Vol. 172, No. 13, 29.03.2010, p. 1038-46.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  3. Published

    KMT2B-related disorders : expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. / Cif, Laura; Demailly, Diane; Lin, Jean Pierre; Barwick, Katy E.; Sa, Mario; Abela, Lucia; Malhotra, Sony; Chong, Wui K.; Steel, Dora; Sanchis-Juan, Alba; Ngoh, Adeline; Trump, Natalie; Meyer, Esther; Vasques, Xavier; Rankin, Julia; Allain, Meredith W.; Applegate, Carolyn D.; Attaripour Isfahani, Sanaz; Baleine, Julien; Balint, Bettina; Bassetti, Jennifer A.; Baple, Emma L.; Bhatia, Kailash P.; Blanchet, Catherine; Burglen, Lydie; Cambonie, Gilles; Seng, Emilie Chan; Bastaraud, Sandra Chantot; Cyprien, Fabienne; Coubes, Christine; d'Hardemare, Vincent; Deciphering Developmental Disorders Study; Doja, Asif; Dorison, Nathalie; Doummar, Diane; Dy-Hollins, Marisela E.; Farrelly, Ellyn; Fitzpatrick, David R.; Fearon, Conor; Fieg, Elizabeth L.; Fogel, Brent L.; Forman, Eva B.; Fox, Rachel G.; Genomics England Research Consortium; Gahl, William A.; Galosi, Serena; Gonzalez, Victoria; Graves, Tracey D.; Gregory, Allison; Hallett, Mark; Hasegawa, Harutomo; Hayflick, Susan J ; Hamosh, Ada ; Hully, Marie; Jansen, Sandra ; Jeong, Suh Young ; Krier, Joel B ; Krystal, Sidney ; Kumar, Kishore R ; Laurencin, Chloé ; Lee, Hane; Lesca, Gaetan; François, Laurence Lion ; Lynch, Timothy ; Mahant, Neil ; Martinez-Agosto, Julian A ; Milesi, Christophe ; Mills, Kelly A; Mondain, Michel ; Morales-Briceno, Hugo ; NIHR BioResource ; Ostergaard, John R.; Undiagnosed Diseases Network.

    In: Brain : a journal of neurology, Vol. 143, No. 11, 11.2020, p. 3242-3261.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  4. Published

    A Possible Coexistence between Restless Leg Syndrom and Attention Deficit Hyperactivity Disorder. / Tilma, Jørgen; Thomsen, Per Hove; Ostergaard, John R.

    In: Ugeskrift for Laeger, Vol. 176, No. 4, 17.02.2014.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  5. Published

    A novel FBN1 variant in a large Marfan family with high penetrance of aortic dissection or rupture. / Rasmussen, Maria; Pedersen, Steen Fjord; Sunde, Lone; Andersen, Niels Holmmark; Ostergaard, John R; Lildballe, Dorte L.

    In: Danish Medical Journal, Vol. 61, No. 11, A4949, 11.2014.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  6. Published

    A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. / Munot, Pinki; Saunders, Dawn E; Milewicz, Dianna M; Regalado, Ellen S; Østergaard, John Rosendahl; Braun, Kees P; Kerr, Timothy; Lichtenbelt, Klaske D; Philip, Sunny; Rittey, Christopher; Jacques, Thomas S; Cox, Timothy C; Ganesan, Vijeya.

    In: Brain, Vol. 135, No. Pt 8, 2012, p. 2506-14.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  7. Published

    A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. / Pen, Anja; Nyegaard, Mette; Fang, Mingyan; Jiang, Hui; Christensen, Rikke; Mølgaard, Henning; Andersen, Henning; Ulhøi, Benedicte Parm; Østergaard, John Rosendahl; Væth, Signe; Sommerlund, Mette; de Brouwer, Arjan P.M.; Zhang, Xuiqing; Jensen, Uffe Birk.

    2015. Poster session presented at ESHG 2015, Glasgow, United Kingdom.

    Research output: Contribution to conferencePosterResearch

  8. Published

    A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology. / Pen, Anja E; Nyegaard, Mette; Fang, Mingyan; Jiang, Hui; Christensen, Rikke; Mølgaard, Henning; Andersen, Henning; Ulhøi, Benedicte Parm; Østergaard, John R; Væth, Signe; Sommerlund, Mette; de Brouwer, Arjan P M; Zhang, Xiuqing; Jensen, Uffe B.

    In: European Journal of Medical Genetics, Vol. 58, No. 4, 04.2015, p. 222-229.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  9. Published

    Aicardi-Goutières syndrome: neuroradiological findings after nine years of follow-up. / Østergaard, John R; Christensen, Thorkil.

    In: European Journal of Paediatric Neurology, Vol. 8, No. 5, 2004, p. 243-6.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  10. Published

    Akut dissemineret encefalomyelitis. Afgraensning, behandling, prognose og evidens. / Christensen, Pia Sønderby; Østergaard, John R.

    In: Ugeskrift for Laeger, Vol. 170, No. 21, 2008, p. 1839-42.

    Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

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