Identification of a Gene for Renal-Hepatic-Pancreatic Dysplasia by Microarray-Based Homozygosity Mapping

Autor: Fiskerstrand, Torunn, Houge, Gunnar, Sund, Staale, Scheie, David, Leh, Sabine, Boman, Helge, Knappskog, Per M.

Publikováno v: In The Journal of Molecular Diagnostics 2010 12(1):125-131

Plasma levels of guanylins are reduced in patients with Crohn’s disease

Autor: Volkmann, Hilde Løland Von, Brønstad, Ingeborg, Tronstad, Rune Rose, Dizdar, Vernesa, Nylund, Kim, Hanevik, Kurt, Hausken, Trygve, Gilja, Odd Helge, Fiskerstrand, Torunn

Externí odkaz: https://hdl.handle.net/11250/2755499

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Comparison of pre-analytical conditions for quantification of serotonin in platelet-poor plasma

Autor: Volkmann, Hilde Løland Von, Brønstad, Ingeborg, Fiskerstrand, Torunn, Gudbrandsen, Oddrun Anita

Externí odkaz: https://hdl.handle.net/1956/23828

A recessive ataxia diagnosis algorithm for the next generation sequencing era

Autor: Renaud, Mathilde, Tranchant, Christine, Group, RADIAL Working, Alonso, Isabel, Azzedine, Hamid, Barbot, Clara, Bereau, Matthieu, Berkovic, Sam, Bernard, Geneviéve, Bindoff, Laurence A, Bompaire, Flavie, Bonneau, Dominique, Martin, Juan Vicente Torres, Bonneau, Patrizia, Boycott, Kym M, Bras, Jose, Brais, Bernard, Brigatti, Karlla W, Cameron, Jillian, Chamova, Teodora, Choquet, Karine, Delague, Valérie, Denizeau, Philippe, Mochel, Fanny, Dotti, Maria Teresa, El-Euch, Ghada, Elmalik, Salah A, Federico, Antonio, Fiskerstrand, Torunn, Gagnon, Cynthia, Guerreiro, Rita, Guissart, Claire, Hassin-Baer, Sharon, Heimdal, Ketil Riddervold, Synofzik, Matthis, Héron, Bénédicte, Isohanni, Pirjo, Kalaydijeva, Luba, Kawarai, Toshitaka, Koht, Jeanette Aimee, Lai, Szu-Chia, Piana, Roberta La, Lecocq, Claire, Linnankivi, Tarja, Lönnqvist, Tuula, van de Warrenburg, Bart, Lu, Chin-Song, Maas, Roderick, Mahlaoui, Nizar, Mallaret, Martial, Marelli, Cecilia, Mariotti, Caterina, Mathieu, Jean, Méneret, Aurélie, Mignarri, Andrea, Monin, Marie Lorraine, Pandolfo, Massimo, Montaut, Solveig, Nanetti, Lorenzo, Nadjar, Yann, Poujois, Aurélia, Salih, Mustafa A, Sousa, Sergio, Stanier, Philip, Stoppa-Lyonnet, Dominique, Strauss, Kevin, Tallaksen, Chantal, Koenig, Michel, Tarnopolsky, Mark, Tinant, Nadége, Tournev, Ivailo, Topaloglu, Haluk, Varhaug, Kristin Nielsen, Woimant, France, Wolf, Nicole I, Yahalom, Gilad, Yoon, Grace, Young, Millie, Kolb, Stefan A, Anheim, Mathieu

Publikováno v: Annals of Neurology
Annals of Neurology, Wiley, 2017, 82 (6), pp.892-899. ⟨10.1002/ana.25084⟩
Annals of Neurology, Wiley, 2017, 82 (6), pp.892--899. ⟨10.1002/ana.25084⟩
Annals of Neurology, 82, 892-899
Annals of Neurology, 82, 6, pp. 892-899
Annals of neurology 82(6), 892-899 (2017). doi:10.1002/ana.25084

International audience; OBJECTIVE: Differential diagnosis of autosomal recessive cerebellar ataxias can be challenging. A ranking algorithm named RADIAL that predicts the molecular diagnosis based on the clinical phenotype of a patient has been devel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aeee06d99441de2322bfdd77ca3e0c8
https://pubmed.ncbi.nlm.nih.gov/29059497