Warning leak in subarachnoid haemorrhage: Author's reply

Autor Østergaard, John R
Vydáno 1990

Perspective having a Centre of Expertise that covers more than one rare disease

Autor Ostergaard, John R
Vydáno v Orphanet J Rare Dis (2014)

Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights

Autor Ostergaard, John R
Vydáno v Degener Neurol Neuromuscul Dis (2016)

Developmental Enamel Defects in Children Prenatally Exposed to Anti-Epileptic Drugs

Autor Jacobsen, Pernille E., Henriksen, Tine B., Haubek, Dorte, Østergaard, John R.
Vydáno 2013

Prenatal Exposure to Antiepileptic Drugs and Dental Agenesis

Autor Jacobsen, Pernille E., Henriksen, Tine B., Haubek, Dorte, Østergaard, John R.
Vydáno 2014

Respiratory distress syndrome in moderately late and late preterm infants and risk of cerebral palsy: a population-based cohort study

Autor Thygesen, Sandra Kruchov, Olsen, Morten, Østergaard, John R, Sørensen, Henrik Toft
Vydáno v BMJ Open (2016)

Constipation in adults with neurofibromatosis type 1

Autor Ejerskov, Cecilie, Krogh, Klaus, Ostergaard, John R., Fassov, Janne L., Haagerup, Annette
Vydáno v Orphanet J Rare Dis (2017)

Eye features in 3 Danish patients with Multi Systemic Smooth Muscle Dysfunction Syndrome

Autor Moller, H.U., Fledelius, Hans C., Milemicz, Dianna M., Regalado, Ellen S., Ostergaard, John R.
Vydáno v Br J Ophthalmol (2012)

Exploring associations between constipation, severity of neurofibromatosis type 1 and NF1 mutational spectrum

Autor Ejerskov, Cecilie, Gaustadnes, Mette, Ostergaard, John R., Krogh, klaus, Thorsen, Kasper, Borglum, Anders D., Haagerup, Annette
Vydáno v Sci Rep (2021)

Detecting 22q11.2 Deletions by Use of Multiplex Ligation-Dependent Probe Amplification on DNA from Neonatal Dried Blood Spot Samples

Autor Sørensen, Karina M., Agergaard, Peter, Olesen, Charlotte, Andersen, Paal S., Larsen, Lars A., Østergaard, John R., Schouten, Jan P., Christiansen, Michael
Vydáno 2010

Klinefelter syndrome has increased brain responses to auditory stimuli and motor output, but not to visual stimuli or Stroop adaptation

Autor Wallentin, Mikkel, Skakkebæk, Anne, Bojesen, Anders, Fedder, Jens, Laurberg, Peter, Østergaard, John R., Hertz, Jens Michael, Pedersen, Anders Degn, Gravholt, Claus Højbjerg
Vydáno v Neuroimage Clin (2016)

Prevalence, incidence, and age at diagnosis in Marfan Syndrome

Autor Groth, Kristian A., Hove, Hanne, Kyhl, Kasper, Folkestad, Lars, Gaustadnes, Mette, Vejlstrup, Niels, Stochholm, Kirstine, Østergaard, John R., Andersen, Niels H., Gravholt, Claus H.
Vydáno v Orphanet J Rare Dis (2015)

Anxiety and depression in Klinefelter syndrome: The impact of personality and social engagement

Autor Skakkebæk, Anne, Moore, Philip J., Pedersen, Anders Degn, Bojesen, Anders, Kristensen, Maria Krarup, Fedder, Jens, Hertz, Jens Michael, Østergaard, John R., Wallentin, Mikkel, Gravholt, Claus Højbjerg
Vydáno v PLoS One (2018)

A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations

Autor Munot, Pinki, Saunders, Dawn E., Milewicz, Dianna M., Regalado, Ellen S., Ostergaard, John R., Braun, Kees P., Kerr, Timothy, Lichtenbelt, Klaske D., Philip, Sunny, Rittey, Christopher, Jacques, Thomas S., Cox, Timothy C., Ganesan, Vijeya
Vydáno 2012

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

Autor Kjaer, Trille Kristina, Andersen, Elisabeth Wreford, Olsen, Maja, Kenborg, Line, Bidstrup, Pernille Envold, Doser, Karoline, Hove, Hanne, Østergaard, John R., Johansen, Christoffer, Sørensen, Sven Asger, Mulvihill, John J., Winther, Jeanette F., Dalton, Susanne Oksbjerg
Vydáno v Eur J Hum Genet (2020)

De Novo ACTA2 Mutation Causes a Novel Syndrome of Multisystemic Smooth Muscle Dysfunction

Autor Milewicz, Dianna M., Østergaard, John R., Ala-Kokko, Leena M., Khan, Nadia, Grange, Dorothy K., Mendoza-Londono, Roberto, Bradley, Timothy J., Olney, Ann Haskins, Adès, Lesley, Maher, Joseph F., Guo, Dongchuan, Buja, L. Maximilian, Kim, Dong, Hyland, James C., Regalado, Ellen S.
Vydáno 2010

Cantú Syndrome Is Caused by Mutations in ABCC9

Autor van Bon, Bregje W.M., Gilissen, Christian, Grange, Dorothy K., Hennekam, Raoul C.M., Kayserili, Hülya, Engels, Hartmut, Reutter, Heiko, Ostergaard, John R., Morava, Eva, Tsiakas, Konstantinos, Isidor, Bertrand, Le Merrer, Martine, Eser, Metin, Wieskamp, Nienke, de Vries, Petra, Steehouwer, Marloes, Veltman, Joris A., Robertson, Stephen P., Brunner, Han G., de Vries, Bert B.A., Hoischen, Alexander
Vydáno 2012

Clinical History and Management Recommendations of the Smooth Muscle Dysfunction Syndrome Due to ACTA2 Arginine 179 Alterations

Autor Regalado, Ellen S., Mellor-Crummey, Lauren, De Backer, Julie, Braverman, Alan C., Ades, Lesley, Benedict, Susan, Bradley, Timothy J., Brickner, M. Elizabeth, Chatfield, Kathryn C., Child, Anne, Feist, Cori, Holmes, Kathryn W., Iannucci, Glen, Lorenz, Birgit, Mark, Paul, Morisaki, Takayuki, Morisaki, Hiroko, Morris, Shaine A., Mitchell, Anna L., Ostergaard, John R., Richer, Julie, Sallee, Denver, Shalhub, Sherene, Tekin, Mustafa, Estrera, Anthony, Musolino, Patricia, Yetman, Anji, Pyeritz, Reed, Milewicz, Dianna M.
Vydáno v Genet Med (2018)

Altered PLP1 splicing causes hypomyelination of early myelinating structures

Autor Kevelam, Sietske H, Taube, Jennifer R, van Spaendonk, Rosalina M L, Bertini, Enrico, Sperle, Karen, Tarnopolsky, Mark, Tonduti, Davide, Valente, Enza Maria, Travaglini, Lorena, Sistermans, Erik A, Bernard, Geneviève, Catsman-Berrevoets, Coriene E, van Karnebeek, Clara D M, Østergaard, John R, Friederich, Richard L, Fawzi Elsaid, Mahmoud, Schieving, Jolanda H, Tarailo-Graovac, Maja, Orcesi, Simona, Steenweg, Marjan E, van Berkel, Carola G M, Waisfisz, Quinten, Abbink, Truus E M, van der Knaap, Marjo S, Hobson, Grace M, Wolf, Nicole I
Vydáno v Ann Clin Transl Neurol (2015)

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation

Autor 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, 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, 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, Ostergaard, John R, Pal, Swasti, Pallais, Juan C, Pavillard, Frédérique, Perrigault, Pierre-Francois, Petersen, Andrea K, Polo, Gustavo, Poulen, Gaetan, Rinne, Tuula, Roujeau, Thomas, Rogers, Caleb, Roubertie, Agathe, Sahagian, Michelle, Schaefer, Elise, Selim, Laila, Selway, Richard, Sharma, Nutan, Signer, Rebecca, Soldatos, Ariane G, Stevenson, David A, Stewart, Fiona, Tchan, Michel, Verma, Ishwar C, de Vries, Bert B A, Wilson, Jenny L, Wong, Derek A, Zaitoun, Raghda, Zhen, Dolly, Znaczko, Anna, Dale, Russell C, de Gusmão, Claudio M, Friedman, Jennifer, Fung, Victor S C, King, Mary D, Mohammad, Shekeeb S, Rohena, Luis, Waugh, Jeff L, Toro, Camilo, Raymond, F Lucy, Topf, Maya, Coubes, Philippe, Gorman, Kathleen M, Kurian, Manju A
Vydáno v Brain (2020)