Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample von Johannessen, Jarle, Nærland, Terje, Hope, Sigrun, Torske, Tonje, Høyland, Anne Lise, Strohmaier, Jana, Heiberg, Arvid, Rietschel, Marcella, Djurovic, Srdjan, Andreassen, Ole A

Volltext

Om å bli gammel von Heiberg, Arvid

Volltext

Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence von Malm, Gunilla, Lund, Allan M., Månsson, Jan-Eric, Heiberg, Arvid

Volltext

Understanding the Experience of Myotonic Dystrophy. Mixed Method Study von Geirdal, Amy Østertun, Lund-Petersen, Inger, Heiberg, Arvid

Volltext

Effect of epilepsy on autism symptoms in Angelman syndrome von Bakke, Kristin A, Howlin, Patricia, Retterstøl, Lars, Kanavin, Øivind J, Heiberg, Arvid, Nærland, Terje

Volltext

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation von Legius, Eric, Messiaen, Ludwine, Wolkenstein, Pierre, Pancza, Patrice, Avery, Robert A., Berman, Yemima, Blakeley, Jaishri, Babovic-Vuksanovic, Dusica, Cunha, Karin Soares, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Gutmann, David H., Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, Peltonen, Sirkku, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Stemmer-Rachamimov, Anat, Stevenson, David A., Tadini, Gianluca, Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Gomes, Alicia, Jordan, Justin T., Mautner, Victor, Merker, Vanessa L., Smith, Miriam J., Stevenson, David, Anten, Monique, Aylsworth, Arthur, Baralle, Diana, Barbarot, Sebastien, Barker, Fred, Ben-Shachar, Shay, Bergner, Amanda, Bessis, Didier, Blanco, Ignacio, Cassiman, Catherine, Ciavarelli, Patricia, Clementi, Maurizio, Frébourg, Thierry, Giovannini, Marco, Halliday, Dorothy, Hammond, Chris, Hanemann, C.O., Hanson, Helen, Heiberg, Arvid, Joly, Pascal, Kalamarides, Michel, Karajannis, Matthias, Kroshinsky, Daniela, Larralde, Margarita, Lázaro, Conxi, Le, Lu, Link, Michael, Listernick, Robert, MacCollin, Mia, Mallucci, Conor, Moertel, Christopher, Mueller, Amy, Ngeow, Joanne, Oostenbrink, Rianne, Packer, Roger, Papi, Laura, Parry, Allyson, Peltonen, Juha, Pichard, Dominique, Poppe, Bruce, Rezende, Nilton, Rodrigues, Luiz Oswaldo, Rosser, Tena, Ruggieri, Martino, Serra, Eduard, Steinke-Lange, Verena, Stivaros, Stavros Michael, Taylor, Amy, Toelen, Jaan, Tonsgard, James, Trevisson, Eva, Upadhyaya, Meena, Varan, Ali, Wilson, Meredith, Wu, Hao, Zadeh, Gelareh, Huson, Susan M., Evans, D. Gareth, Plotkin, Scott R.

Volltext

Egil Ruud von Heiberg, Arvid, Nilsson, Britta

Volltext

Genterapi for sjeldne sykdommer von Heiberg, Arvid

Volltext

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation von Plotkin, Scott R., Messiaen, Ludwine, Legius, Eric, Pancza, Patrice, Avery, Robert A., Blakeley, Jaishri O., Babovic-Vuksanovic, Dusica, Ferner, Rosalie, Fisher, Michael J., Friedman, Jan M., Giovannini, Marco, Gutmann, David H., Hanemann, Clemens Oliver, Kalamarides, Michel, Kehrer-Sawatzki, Hildegard, Korf, Bruce R., Mautner, Victor-Felix, MacCollin, Mia, Papi, Laura, Rauen, Katherine A., Riccardi, Vincent, Schorry, Elizabeth, Smith, Miriam J., Stemmer-Rachamimov, Anat, Stevenson, David A., Ullrich, Nicole J., Viskochil, David, Wimmer, Katharina, Yohay, Kaleb, Huson, Susan M., Wolkenstein, Pierre, Evans, Dafydd Gareth

Volltext

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study von Moss, Davina J Hensman, MBBS, Pardiñas, Antonio F, PhD, Langbehn, Douglas, Prof, Lo, Kitty, PhD, Leavitt, Blair R, Prof, Roos, Raymund, Prof, Durr, Alexandra, Prof, Mead, Simon, Prof, Holmans, Peter, Prof, Jones, Lesley, Prof, Tabrizi, Sarah J, Prof

Volltext

Notes on the history of normality : reflections on the work of QUETELET and GALTON von GRUE, Lars, HEIBERG, Arvid

Volltext

Dental characteristics in Williams syndrome: a clinical and radiographic evaluation von Axelsson, Stefan, Bjørnland, Tore, Kjær, Inger, Heiberg, Arvid, Storhaug, Kari

Volltext

PET Molecular Imaging of Phosphodiesterase 10A: An Early Biomarker of Huntington's Disease Progression von Fazio, Patrik, Fitzer‐Attas, Cheryl J., Mrzljak, Ladislav, Bronzova, Juliana, Nag, Sangram, Warner, John H., Landwehrmeyer, Bernhard, Al‐Tawil, Nabil, Halldin, Christer, Forsberg, Anton, Ware, Jennifer, Dilda, Valentina, Wood, Andrew, Sampaio, Cristina, Varrone, Andrea

Volltext

Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects von Goldberg, Y. Paul, Kremer, Berry, Andrew, Susan E, Theilmann, Jane, Graham, Rona K, Squitieri, Ferdinando, Telenius, Håkan, Adam, Shelin, Sajoo, Anaar, Starr, Elizabeth, Heiberg, Arvid, Wolff, Gerhard, Hayden, Michael R

Volltext

Recommendations for the predictive genetic test in Huntington's disease von MacLeod, R, Tibben, A, Frontali, M, Evers-Kiebooms, G, Jones, A, Martinez-Descales, A, Roos, RA

Volltext

Biallelic variants in KIF14 cause intellectual disability with microcephaly von Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha S, Mahmoud, Iman G, Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N, Coban Akdemir, Zeynep H, Gambin, Tomasz, Sorte, Hanne S, Heiberg, Arvid, McEvoy-Venneri, Jennifer, James, Kiely N, Stanley, Valentina, Belandres, Denice, Guipponi, Michel, Santoni, Federico A, Ahangari, Najmeh, Tara, Fatemeh, Doosti, Mohammad, Iwaszkiewicz, Justyna, Zoete, Vincent, Backe, Paul Hoff, Hamamy, Hanan, Gleeson, Joseph G, Lupski, James R, Karimiani, Ehsan Ghayoor, Antonarakis, Stylianos E

Volltext

Myotonic dystrophy type 1 - a multiorgan disorder von Ørstavik, Kristin, Solbakken, Gro, Rasmussen, Magnhild, Sanaker, Petter Schandl, Fossmo, Hanne Ludt, Bryne, Einar, Knutsen-Øy, Torill, Elgsås, Tonje, Heiberg, Arvid

Volltext

Clinical manifestations of intermediate allele carriers in Huntington disease von Cubo, Esther, Ramos-Arroyo, María A, Martinez-Horta, Saul, Martínez-Descalls, Asunción, Calvo, Sara, Gil-Polo, Cecilia

Volltext

Søskenbarn bør kunne gifte seg von Chaudhry, Farrukh Abbas, Sajjad, Torunn Arntsen, Heiberg, Arvid

Volltext

Enzyme replacement therapy in MPS II patients over 20years of age or older at treatment initiation: An international case series from the Hunter Outcome Survey (HOS) von Whiteman, David, Heiberg, Arvid, Lampe, Christina

Volltext