المؤلفون: Cockerell, Ine^{Aff1, IDs13023023029821_cor1}, Christensen, Jakob^{Aff2, Aff3}, Hoei-Hansen, Christina E.^{Aff4, Aff5}, Holst, Lotte, Grenaa Frederiksen, Mikkel, Issa-Epe, Aart Imran, Nedregaard, Bård, Solhoff, Ragnar, Heimdal, Ketil, Johannessen Landmark, Cecilie^{Aff10, Aff11, Aff12}, Lund, Caroline, Nærland, Terje^{Aff13, Aff14}

المصدر: Orphanet Journal of Rare Diseases. 18(1)

المؤلفون: Angius, Andrea, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Clayton-Smith, Jill, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, Garrido, Elena Dominguez, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Patterson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rake, Jan Peter, van Ravenswaaij-Arts, Conny M.A., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Saitta, Sulagna C., Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Schultz-Rogers, Laura, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tartaglia, Marco, Tedder, Matt, Terhal, Paulien, Tully, Ian, Verbeek, Nienke, Wenzel, Maren, White, Susan M., Xiao, Bing, Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

المصدر: In Human Genetics and Genomics Advances 18 July 2024 5(3)

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المؤلفون: Tønne, Elin^{Aff1, Aff2, Aff3}, Due-Tønnessen, Bernt Johan^{Aff3, Aff4}, Mero, Inger-Lise, Wiig, Ulrikke Straume^{Aff3, Aff4}, Kulseth, Mari Ann, Vigeland, Magnus Dehli^{Aff1, Aff2}, Sheng, Ying, von der Lippe, Charlotte^{Aff5, Aff6}, Tveten, Kristian, Meling, Torstein Ragnar^{Aff1, Aff4, Aff7, Aff8}, Helseth, Eirik^{Aff1, Aff4}, Heimdal, Ketil Riddervold^{Aff2, Aff3}

المصدر: European Journal of Human Genetics. 29(6):920-929

المؤلفون: Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K, Akdemir, Zeynep H Coban, Erichsen, Hans Christian, Forbes, Lisa R, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N, Muzny, Donna M, Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K, Noroski, Lenora M, Seeborg, Filiz O, Davis, Carla M, Canter, Debra L, Mace, Emily M, Vece, Timothy J, Allen, Carl E, Abhyankar, Harshal A, Boone, Philip M, Beck, Christine R, Wiszniewski, Wojciech, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F, Abrahamsen, Tore G, Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv TN, Kulseth, Mari Ann, Prescott, Trine E, Rustad, Cecilie F, Heimdal, Ketil R, Belmont, John W, Rider, Nicholas L, Chinen, Javier, Cao, Tram N, Smith, Eric A, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J Espinosa, Guerrero-Cursaru, Nina Denisse, Pedroza, Luis Alberto, Poli, Cecilia M, Franco, Jose L, Vargas, Claudia M Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B, Issekutz, Andrew C, Abbott, Jordan, Caldwell, Jason W, Bayer, Diana K, Chan, Alice Y, Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gözde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K, Ehlayel, Mohammad S, Jolles, Stephen, Flatø, Berit, Bertuch, Alison A, Hanson, I Celine, Zhang, Victor W, Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine M, Boerwinkle, Eric, Gibbs, Richard A, Shearer, William T, Lyle, Robert, Orange, Jordan S, Lupski, James R

المصدر: Journal of Allergy and Clinical Immunology. 139(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Immunology, Human Genome, Prevention, Clinical Research, Genetic Testing, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Good Health and Well Being, Adolescent, Adult, Aged, Child, Child, Preschool, DNA Copy Number Variations, Female, Genomics, High-Throughput Nucleotide Sequencing, Humans, Immunologic Deficiency Syndromes, Infant, Male, Middle Aged, Young Adult, Primary immunodeficiency disease, whole-exome sequencing, copy number variants, Allergy

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8188960d

المؤلفون: Jørgensen, Ole Jakob, Steineger, Johan Edvard, Hillarp, Andreas, Pareli Wåland, Erik, Holme, Pål André, Heimdal, Ketil, Dheyauldeen, Sinan

المصدر: Laryngoscope Investigative Otolaryngology; Feb2024, Vol. 9 Issue 1, p1-8, 8p

مصطلحات موضوعية: HEREDITARY hemorrhagic telangiectasia, THROMBOEMBOLISM, FERRITIN, IRON

المؤلفون: Sigurdardottir, Solrun^Aff1, Bjerkely, Birgitte, Jenssen, Trond G.^{Aff2, Aff3}, Mathisen, Per, von der Lippe, Charlotte, Ørstavik, Kristin, Heimdal, Ketil, Dahle, Dag Olav, Weedon-Fekjær, Mina Susanne, Solberg, Olga, Pihlstrøm, Hege K.

المصدر: Orphanet Journal of Rare Diseases. 16(1)

المؤلفون: Prescott, Trine E., Kulseth, Mari Ann, Heimdal, Ketil R., Stadheim, Barbro, Hopp, Einar, Gambin, Tomasz, Coban Akdemir, Zeynep H., Jhangiani, Shalini N., Muzny, Donna M., Gibbs, Richard A., Lupski, James R., Stray-Pedersen, Asbjørg

المصدر: In European Journal of Medical Genetics August 2016 59(8):367-372

المؤلفون: Cockerell, Ine Tracey, Christensen, Jakob, Hoei-Hansen, Christina, Holst, Lotte, Frediksen, Mikkel G, Issa-Epe, Aart I., Nedregaard, Bård, Solhoff, Ragnar Håkon, Heimdal, Ketil Riddervold, Landmark, Cecilie Johannessen, Lund, Beate Caroline Pernille, Nærland, Terje

الإتاحة: https://hdl.handle.net/11250/3110376

المؤلفون: Jørgensen, Ole Jakob, Steineger, Johan Edvard, Hillarp, Andreas, Wåland, Erik Pareli, Holme, Pål Andre, Heimdal, Ketil Riddervold, Dheyauldeen, Sinan Ahmed Dheyauldeen

المصدر: Jørgensen, Ole Jakob Steineger, Johan Edvard Hillarp, Andreas Wåland, Erik Pareli Holme, Pål Andre Heimdal, Ketil Riddervold Dheyauldeen, Sinan Ahmed Dheyauldeen . Elevated FVIII levels in hereditary hemorrhagic telangiectasia:Implications for clinical management. Laryngoscope Investigative Otolaryngology (LIO). 2023
Laryngoscope Investigative Otolaryngology (LIO)

الإتاحة: http://hdl.handle.net/10852/106481