A Novel GDF6 Mutation in a Family with Multiple Synostoses Syndrome without Hearing Loss

द्वारा Drage Berentsen, Ragnhild, Haukanes, Bjørn I., Júlíusson, Pétur B., Rosendahl, Karen, Houge, Gunnar
में प्रकाशित Mol Syndromol (2019)

CDR2L Antibodies: A New Player in Paraneoplastic Cerebellar Degeneration

द्वारा Eichler, Tilo W., Totland, Cecilie, Haugen, Mette, Qvale, Tor H., Mazengia, Kibret, Storstein, Anette, Haukanes, Bjørn I., Vedeler, Christian A.
प्रकाशित 2013

CDR2 antigen and Yo antibodies

द्वारा Totland, Cecilie, Aarskog, Nina K., Eichler, Tilo W., Haugen, Mette, Nøstbakken, Jane K., Monstad, Sissel E., Salvesen, Helga B., Mørk, Sverre, Haukanes, Bjørn I., Vedeler, Christian A.
प्रकाशित 2010

Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families

द्वारा Ngcungcu, Thandiswa, Oti, Martin, Sitek, Jan C., Haukanes, Bjørn I., Linghu, Bolan, Bruccoleri, Robert, Stokowy, Tomasz, Oakeley, Edward J., Yang, Fan, Zhu, Jiang, Sultan, Marc, Schalkwijk, Joost, van Vlijmen-Willems, Ivonne M.J.J., von der Lippe, Charlotte, Brunner, Han G., Ersland, Kari M., Grayson, Wayne, Buechmann-Moller, Stine, Sundnes, Olav, Nirmala, Nanguneri, Morgan, Thomas M., van Bokhoven, Hans, Steen, Vidar M., Hull, Peter R., Szustakowski, Joseph, Staedtler, Frank, Zhou, Huiqing, Fiskerstrand, Torunn, Ramsay, Michele
में प्रकाशित Am J Hum Genet (2017)

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

द्वारा Moortgat, Stéphanie, Berland, Siren, Aukrust, Ingvild, Maystadt, Isabelle, Baker, Laura, Benoit, Valerie, Caro-Llopis, Alfonso, Cooper, Nicola S., Debray, François-Guillaume, Faivre, Laurence, Gardeitchik, Thatjana, Haukanes, Bjørn I., Houge, Gunnar, Kivuva, Emma, Martinez, Francisco, Mehta, Sarju G., Nassogne, Marie-Cécile, Powell-Hamilton, Nina, Pfundt, Rolph, Rosello, Monica, Prescott, Trine, Vasudevan, Pradeep, van Loon, Barbara, Verellen-Dumoulin, Christine, Verloes, Alain, Lippe, Charlotte von der, Wakeling, Emma, Wilkie, Andrew O. M., Wilson, Louise, Yuen, Amy, Study, DDD, Low, Karen J., Newbury-Ecob, Ruth A.
में प्रकाशित Eur J Hum Genet (2017)