Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Tørring, Pernille M."'
Autor:
Lildballe, Dorte L., Frederiksen, Anja Lisbeth, Schönewolf-Greulich, Bitten, Brasch-Andersen, Charlotte, Lautrup, Charlotte Kvist, Karstensen, Helena Gásdal, Pedersen, Inge Søkilde, Sunde, Lone, Risom, Lotte, Rasmussen, Maria, Bertelsen, Mette, Andersen, Mette Klarskov, Rendtorff, Nanna Dahl, Gregersen, Pernille Axél, Tørring, Pernille M., Hammer-Hansen, Sophia, Boonen, Susanne E., Lindquist, Suzanne Granhøj, Hammer, Trine Bjørg, Diness, Birgitte R.
Publikováno v:
In European Journal of Medical Genetics December 2023 66(12)
Autor:
Delanne, Julian, Lecat, Magaly, Blackburn, Patrick R., Klee, Eric W., Stumpel, Constance T.R.M., Stegmann, Sander, Stevens, Servi J.C., Nava, Caroline, Heron, Delphine, Keren, Boris, Mahida, Sonal, Naidu, Sakkubai, Babovic-Vuksanovic, Dusica, Herkert, Johanna C., Torring, Pernille M., Kibæk, Maria, De Bie, Isabelle, Pfundt, Rolph, Hendriks, Yvonne M.C., Ousager, Lilian Bomme, Bend, Renee, Warren, Hannah, Skinner, Steven A., Lyons, Michael J., Pöe, Charlotte, Chevarin, Martin, Jouan, Thibaud, Garde, Aurore, Thomas, Quentin, Kuentz, Paul, Tisserant, Emilie, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin-Robinet, Christel
Publikováno v:
In European Journal of Medical Genetics January 2023 66(1)
Autor:
Moldenæs, Marika F., Rendtorff, Nanna D., Hindbæk, Lone S., Tørring, Pernille M., Nilssen, Øivind, Tranebjærg, Lisbeth
Publikováno v:
In European Journal of Medical Genetics September 2021 64(9)
Autor:
Kofoed, Mikkel Seremet, Tørring, Pernille M., Christensen, Alex Alban, Lange, Bibi, Kjeldsen, Anette Drøhse, Nielsen, Troels Halfeld
Publikováno v:
European Journal of Neurology; Feb2024, Vol. 31 Issue 2, p1-9, 9p
Autor:
Aerden, Mio, Denommé-Pichon, Anne-Sophie, Bonneau, Dominique, Bruel, Ange-Line, Delanne, Julian, Gérard, Bénédicte, Mazel, Benoît, Philippe, Christophe, Pinson, Lucile, Prouteau, Clément, Putoux, Audrey, Tran Mau-Them, Frédéric, Viora-Dupont, Éléonore, Vitobello, Antonio, Ziegler, Alban, Piton, Amélie, Isidor, Bertrand, Francannet, Christine, Maillard, Pierre-Yves, Julia, Sophie, Philippe, Anais, Schaefer, Elise, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, Legius, Eric, Theunis, Miel, Keren, Boris, Buratti, Julien, Charles, Perrine, Courtin, Thomas, Misra-Isrie, Mala, van Haelst, Mieke, Waisfisz, Quinten, Wieczorek, Dagmar, Schmetz, Ariane, Herget, Theresia, Kortüm, Fanny, Lisfeld, Jasmin, Debray, François-Guillaume, Bramswig, Nuria C., Atallah, Isis, Fodstad, Heidi, Jouret, Guillaume, Almoguera, Berta, Tahsin-Swafiri, Saoud, Santos-Simarro, Fernando, Palomares-Bralo, Maria, López-González, Vanesa, Kibaek, Maria, Tørring, Pernille M., Renieri, Alessandra, Bruno, Lucia Pia, Õunap, Katrin, Wojcik, Monica, Hsieh, Tzung-Chien, Krawitz, Peter, Van Esch, Hilde
Publikováno v:
European Journal of Human Genetics: EJHG; April 2023, Vol. 31 Issue: 4 p461-468, 8p
Autor:
Kjær Simonsen, Simon, Nielsen, Troels Halfeld, Dalby, Rikke Beese, Dam Fialla, Annette, Lange, Bibi, Tørring, Pernille M, Diaz, Anabel, Kjeldsen, Anette Drøhse
Publikováno v:
Kjær Simonsen, S, Nielsen, T H, Dalby, R B, Dam Fialla, A, Lange, B, Tørring, P M, Diaz, A & Kjeldsen, A D 2021, ' Screening for cerebrale arteriovenøsemalformationer ved mb. Osler ', Ugeskrift for Laeger, bind 183, nr. 19, V12200905 . < https://ugeskriftet.dk/videnskab/screening-cerebrale-arteriovenosemalformationer-ved-mb-osler >
Patients with hereditary haemorrhagic telangiectasia (HHT) are known to suffer from cerebral arteriovenous malformations (CAVMs). In this review, we explore existing literature for bleeding risk, interventional therapy and neuroradiological features
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3062::8c3bbef8e98a263398fd832d43e2c762
https://ugeskriftet.dk/videnskab/screening-cerebrale-arteriovenosemalformationer-ved-mb-osler
https://ugeskriftet.dk/videnskab/screening-cerebrale-arteriovenosemalformationer-ved-mb-osler
Autor:
Tørring, Pernille M.1 pernille.toerring@rsyd.dk, Kjeldsen, Anette D.2, Ousager, Lilian Bomme1, Brusgaard, Klaus1
Publikováno v:
Molecular Genetics & Genomic Medicine. Jan2018, Vol. 6 Issue 1, p121-125. 5p.
Autor:
Brix, Anna Trier Heiberg, Tørring, Pernille M, Kamaleswaran, Shailajah, Kjeldsen, Anette Drøhse, Kjærskov, Mette Wanscher, Bygum, Anette
Publikováno v:
Brix, A T H, Tørring, P M, Kamaleswaran, S, Kjeldsen, A D, Kjærskov, M W & Bygum, A 2019, ' Glomuvenøse malformationer ', Ugeskrift for Laeger, bind 181, nr. 22, V10180740 . < http://ugeskriftet.dk/videnskab/glomuvenose-malformationer >
In this review, the importance of correct diagnosis of glomuvenous malformations (GVM) is emphasised, and different treatment modalities are discussed. GVM are simple venous malformations located in the skin and subcutis, and GVM has a characteristic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3062::ab5badf570f3e58708505d8b4f773ae3
http://ugeskriftet.dk/videnskab/glomuvenose-malformationer
http://ugeskriftet.dk/videnskab/glomuvenose-malformationer
Autor:
Tørring, Pernille M.1,2 pernille.toerring@rsyd.dk, Larsen, Martin Jakob1,3, Kjeldsen, Anette D.2,4, Ousager, Lilian Bomme1,3, Tan, Qihua1,5, Brusgaard, Klaus1,3
Publikováno v:
PLoS ONE. Mar2014, Vol. 9 Issue 3, p1-12. 12p.
Autor:
Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Christeen Ramane, Pedurupillay Jesuthasan, Strømme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjærgaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zoë, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.
Publikováno v:
Gabriele, Michele Vulto-van Silfhout, Anneke T. Germain, Pierre-Luc Vitriolo, Alessandro Kumar, Raman Douglas, Evelyn Haan, Eric Kosaki, Kenjiro Takenouchi, Toshiki Rauch, Anita Steindl, Katharina Frengen, Eirik Misceo, Doriana Christeen Ramane, Pedurupillay Jesuthasan Strømme, Petter Rosenfeld, Jill A. Shao, Yunru Craigen, William J. Schaaf, Christian P. Rodriguez-Buritica, David Farach, Laura Friedman, Jennifer Thulin, Perla McLean, Scott D. Nugent, Kimberly M. Morton, Jenny Nicholl, Jillian Andrieux, Joris Stray-Pedersen, Asbjørg Chambon, Pascal Patrier, Sophie Lynch, Sally A. Kjærgaard, Susanne Tørring, Pernille M. Brasch-Andersen, Charlotte Ronan, Anne van Haeringen, Arie Anderson, Peter J. Powis, Zoë Brunner, Han G. Pfundt, Rolph Schuurs-Hoeijmakers, Janneke H.M. van Bon, Bregje W.M. Lelieveld, Stefan Gilissen, Christian Nillesen, Willy M. Vissers, Lisenka E.L.M. Gecz, Jozef Koolen, David A. Testa, Giuseppe de Vries, Bert B.A. . YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction. American Jo
American Jo
American Jo
Externí odkaz:
http://hdl.handle.net/10852/63294
https://www.duo.uio.no/bitstream/handle/10852/63294/1/YY1haploinsufficiency%2Bsyndrome.pdf
https://www.duo.uio.no/bitstream/handle/10852/63294/1/YY1haploinsufficiency%2Bsyndrome.pdf