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2019
1 Bjurulf, Bjørn; Magnus, Per; Hallböök, Tove; Strømme, Petter.
Potassium citrate and metabolic acidosis in children with epilepsy on the ketogenic diet: a prospective controlled study. Developmental Medicine & Child Neurology 2019 ;Volum 62.(1) s. 57-61
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2 Filges, Isabel; Strømme, Petter.
CUGC for Stromme syndrome and CENPF-related disorders. European Journal of Human Genetics 2019 ;Volum 28. s. 132-136
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3 Sumathipala, Dulika Sanjeewani; Strømme, Petter; Gilissen, Christian; Corominas, Jordi; Frengen, Eirik; Misceo, Doriana.
TBCK encephaloneuropathy with abnormal lysosomal storage: Use of a structural variant bioinformatics pipeline on whole-genome sequencing data unravels a 20-year-old clinical mystery. Pediatric Neurology 2019 ;Volum 96. s. 74-75
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2018
4 Kotlarz, Daniel; Marquardt, Benjamin; Barøy, Tuva; Lee, Way S.; Konnikova, Liza; Hollizeck, Sebastian; Magg, Thomas; Lehle, Anna S.; Walz, Christoph; Borggraefe, Ingo; Hauck, Fabian; Bufler, Philip; Conca, Raffaele; Wall, Sarah M.; Schumacher, Eva Margrethe; Misceo, Doriana; Frengen, Eirik; Bentsen, Beint Sigmund; Uhlig, Holm H.; Hopfner, Karl-Peter; Muise, Aleixo M.; Snapper, Scott B.; Strømme, Petter; Klein, Christoph.
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nature Genetics 2018 ;Volum 50.(3) s. 344-348
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5 Strømme, Petter; Groeneweg, Stefan; Lima de Souza, Elaine C.; Zevenbergen, Chantal; Torgersbråten, Anette; Holmgren, Asbjørn; Gurcan, Ebrar; Meima, Marcel E.; Peeters, Robin P.; Visser, W. Edward; Johansson, Linda Høneren; Babovic, Almira; Zetterberg, Henrik; Heuer, Heike; Frengen, Eirik; Misceo, Doriana; Visser, Theo J..
Mutated thyroid hormone transporter OATP1C1 associates with severe brain hypometabolism and juvenile neurodegeneration. Thyroid 2018 ;Volum 28.(11) s. 1406-1415
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2017
6 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 Journal of Human Genetics 2017 ;Volum 100.(6) s. 907-925
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7 Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan; Hu, Chun; Kusumoto, Hirofumi; Heyne, Henrike O.; Helbig, Katherine L.; Tang, Sha; Willing, Marcia C.; Tinkle, Brad T.; Adams, Darius J.; Depienne, Christel; Keren, Boris; Mignot, Cyril; Frengen, Eirik; Strømme, Petter; Biskup, Saskia; Docker, Dennis; Strom, Tim M.; Mefford, Heather C.; Myers, Candace T.; Muir, Alison M.; LaCroix, Amy; Sadleir, Lynette; Scheffer, Ingrid E.; Brilstra, Eva; van Haelst, Mieke M.; van der Smagt, Jasper J.; Bok, Levinus A.; Møller, Rikke S.; Jensen, Uffe B.; Millichap, John J.; Berg, Anne T.; Goldberg, Ethan M.; De Bie, Isabelle; Fox, Stephanie; Major, Philippe; Jones, Julie R.; Zackai, Elaine H.; Abou Jamra, Rami; Rolfs, Arndt; Leventer, Richard J.; Lawson, John A.; Roscioli, Tony; Jansen, Floor E.; Ranza, Emmanuelle; Korff, Christian M.; Lehesjoki, Anna-Elina; Courage, Carolina; Linnankivi, Tarja; Smith, Douglas R.; Stanley, Christine; Mintz, Mark; McKnight, Dianalee; Decker, Amy; Tan, Wen-Hann; Tarnopolsky, Mark A.; Brady, Lauren I.; Wolff, Markus; Dondit, Lutz; Pedro, Helio F.; Parisotto, Sarah E.; Jones, Kelly L.; Patel, Anup D.; Franz, David N.; Vanzo, Rena; Marco, Elysa; Ranells, Judith D.; Di Donato, Nataliya; Dobyns, William B.; Laube, Bodo; Traynelis, Stephen F.; Lemke, Johannes R..
GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Journal of Medical Genetics 2017 ;Volum 54.(7) s. 460-470
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2016
8 Barøy, Tuva; Pedurupillay Jesuthasan, Christeen Ramane; Bliksrud, Yngve Thomas; Rasmussen, Magnhild; Holmgren, Asbjørn; Vigeland, Magnus Dehli; Hughes, Timothy; Brink, Maaike; Rodenburg, Richard J.; Nedregaard, Bård; Strømme, Petter; Frengen, Eirik; Misceo, Doriana.
A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. European Journal of Medical Genetics 2016 ;Volum 59.(6-7) s. 342-346
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9 Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik; Waage, Trine Rygvold; Hoesli, Irene; Schubach, Max; de Beer, Tjaart; Sheng, Ying; Hoeller, Sylvia; Schulzke, Sven; Røsby, Oddveig; Miny, Peter; Tercanli, Sevgi; Oppedal, Truls; Meyer, Peter; Selmer, Kaja Kristine; Strømme, Petter.
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation 2016 ;Volum 37.(4) s. 359-363
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10 Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik; Waage, Trine Rygvold; Hösli, Irene; Schubach, Max; de Beer, Tjaart; Sheng, Ying; Höller, Sylvia; Schulzke, Sven; Røsby, Oddveig; Miny, Peter; Tercanli, Sevgi; Oppedal, Truls; Meyer, Peter; Selmer, Kaja Kristine; Strømme, Petter.
Erratum to: Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation 2016 ;Volum 37.(7) s. 711-711
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11 Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schutz, Hannah; Hentschel, Julia; Courage, Carolina; Depienne, Christel; Nava, Caroline; Heron, Delphine; Møller, Rikke S.; Hjalgrim, Helle; Lal, Dennis; Neubauer, Bernd A.; Nurnberg, Peter; Thiele, Holger; Kurlemann, Gerhard; Arnold, Georgianne L.; Bhambhani, Vikas; Bartholdi, Deborah; Christeen Ramane, Pedurupillay Jesuthasan; Misceo, Doriana; Frengen, Eirik; Strømme, Petter; Dlugos, Dennis J.; Doherty, Emily S.; Bijlsma, Emilia K.; Ruivenkamp, Claudia A.; Hoffer, Mariette J.V.; Goldstein, Amy; Rajan, Deepa S.; Narayanan, Vinodh; Ramsey, Keri; Belnap, Newell; Schrauwen, Isabelle; Richholt, Ryan; Koeleman, Bobby P.C.; Sa, Joaquim; Mendonca, Carla; de Kovel, Carolien G.F.; Weckhuysen, Sarah; Hardies, Katia; De Jonghe, Peter; De Meirleir, Linda; Milh, Mathieu; Badens, Catherine; Lebrun, Marine; Busa, Tiffany; Francannet, Christine; Piton, Amelie; Riesch, Erik; Biskup, Saskia; Vogt, Heinrich; Dorn, Thomas; Helbig, Ingo; Michaud, Jacques L.; Laube, Bodo; Syrbe, Steffen.
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology 2016 ;Volum 86.(23) s. 2171-2178
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12 Pedurupillay Jesuthasan, Christeen Ramane; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rasmussen, Magnhild; Blomhoff, Anne; Stadheim, Barbro; Ørstavik, Kristin; Holmgren, Asbjørn; Iqbal, Tahir; Frengen, Eirik; Misceo, Doriana; Strømme, Petter.
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2. Neuromuscular Disorders 2016 ;Volum 26.(9) s. 570-575
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13 Pedurupillay Jesuthasan, Christeen Ramane; Landsend, Erlend Christoffer Sommer; Vigeland, Magnus Dehli; Ansar, Muhammad; Frengen, Eirik; Misceo, Doriana; Strømme, Petter.
Segregation of incomplete achromatopsia and alopecia due to PDE6H and LPAR6 variants in a consanguineous family from Pakistan. Genes 2016 ;Volum 7.(8) s. -
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14 Skauli, Nadia; Wallace, Sean Ciaran; Chiang, Samuel C.C.; Barøy, Tuva; Holmgren, Asbjørn; Stray-Pedersen, Asbjørg; Bryceson, Yenan T.; Strømme, Petter; Frengen, Eirik; Misceo, Doriana.
Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. Genes 2016 ;Volum 7.(12) s. -
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2015
15 Barøy, Tuva; Koster, Janet; Strømme, Petter; Ebberink, Merel S.; Misceo, Doriana; Ferdinandusse, Sacha; Holmgren, Asbjørn; Hughes, Timothy; Merckoll, Else; Westvik, Jostein; Woldseth, Berit; Walter, John; Wood, Nick; Tvedt, Bjørn; Stadskleiv, Kristine; Wanders, Ronald J.A.; Waterham, Hans R.; Frengen, Eirik.
A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Human Molecular Genetics 2015 ;Volum 24.(20) s. 5845-5854
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16 Christeen Ramane, Pedurupillay Jesuthasan; Barøy, Tuva; Holmgren, Asbjørn; Blomhoff, Anne; Vigeland, Magnus Dehli; Sheng, Ying; Frengen, Eirik; Strømme, Petter; Misceo, Doriana.
Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. American Journal of Medical Genetics. Part A 2015 ;Volum 167.(3) s. 657-663
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17 Hope, Sigrun; Johannessen, Christen Horn; Aanonsen, Nils Olav; Strømme, Petter.
The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway. European Journal of Neurology 2015 ;Volum 23.(51) s. 36-44
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18 Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett; Romani, Marta; Silhavy, Jennifer L.; Rosti, Rasim O.; Schroth, Jana; Mazza, Tommaso; Miccinilli, Elide; Zaki, Maha S.; Swoboda, Kathryn J.; Milisa-Drautz, Joanne; Dobyns, William B.; Mikati, Mohamed; Incecik, Faruk; Azam, Matloob; Borgatti, Renato; Romaniello, Romina; Boustany, Rose-Mary; Clericuzio, Carol L.; D'Arrigo, Stefano; Strømme, Petter; Boltshauser, Eugen; Stanzial, Franco; Mirabelli-Badenier, Marisol; Moroni, Isabella; Bertini, Enrico; Emma, Francesco; Steinlin, Maja; Hildebrandt, Friedhelm; Johnson, Colin A.; Freilinger, Michael; Vaux, Keith K.; Gabriel, Stacey B.; Aza-Blac, Pedro; Heynen, Susanne-Genel; Ideker, Trey; Dynlacht, Brian D.; Lee, Ji Eun; Valente, Enza Maria; Kim, Joon; Gleeson, Joseph G..
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. eLIFE 2015 ;Volum 4.(MAY) s. 1-37
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2014
19 Møller, R.S.; Jensen, L.R.; Maas, S.M.; Filmus, J.; Capurro, M; Hansen, C; Marcelis, Carlo L.M.; Ravn, K.; Andrieux, Joris; Mathieu, M; Kirchhoff, Maria; Rødningen, Olaug Kristin; de Leeuw, n.; Yntema, H.G.; Froyen, Guy; Vandewalle, Joos; Ballon, K; Klopocki, E; Joss, S; Tolmie, J; Knegt, AC; Lund, A. M.; Hjalgrim, H; Kuss, AW; Tommerup, N; Ullmann, R; de Brouwer, A.P.M.; Strømme, Petter; Kjærgaard, S; Tümer, Zeynep; Kleefstra, Tjitske.
X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. Human Genetics 2014 ;Volum 133.(5) s. 625-638
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20 Strømme, Kirsten Kierulf; Strømme, Petter; Bjertness, Espen; Lien, Lars.
Intrauterine growth restriction: A population-based study of the association with academic performance and psychiatric health. Acta Paediatrica 2014 ;Volum 103.(8) s. 886-891
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21 Wolf, Nicole I.; Vanderver, Adeline; van Spaendonk, R.M.; Schiffmann, Raphael; Brais, B.; Bugiani, Massimiliano; Sistermans, Erik A.; Catsman-Berrevoets, C.; Kros, Johan M.; Pinto, P.S.; Pohl, D; Tirupathi, S.; Strømme, Petter; de Grauw, T.; Fribourg, S.; Demos, M.; Pizzino, A.; Naidu, S; Guerrero, K.; Van der Knaap, M.S.; Bernard, Genevieve.
Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology 2014 ;Volum 83.(21) s. 1898-1905
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2013
22 Barøy, Tuva; Misceo, Doriana; Strømme, Petter; Stray-Pedersen, Asbjørg; Holmgren, Asbjørn; Rødningen, Olaug Kristin; Blomhoff, Anne; Helle, Johan Robert; Stormyr, Alice; Tvedt, Bjørn; Fannemel, Madeleine; Frengen, Eirik.
Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability. Orphanet Journal of Rare Diseases 2013 ;Volum 8. s. -
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23 Jensen, Vidar; Dervola, KS; Lee, Anee Karin; Hvalby, OC; Roberg, BÅ; Nielsen, MJ; Strømme, Petter.
Different subcellular distributions of AMPA and NMDA receptor subunits in two rat models of cognitive dysfunctions. Soc. Neurosci.43rd Annual Meeting; 2013-11-09 - 2013-11-14
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24 Lee, AK; Dervola, KS; Jensen, V; Roberg, BÅ; Nielsen, MJ; Strømme, Petter; Hvalby, ØC; Walaas, SI.
Different subcellular distributions of AMPA and NMDA receptor subunits in two rat models of cognitive dysfunctions. Society for Neuroscience 43rd Annual Meeting; 2013-11-09 - 2013-11-14
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2012
25 Selmer, Kaja Kristine; Gilfillan, Gregor Duncan; Strømme, Petter; Lyle, Robert; Hughes, Timothy; Hjorthaug, Hanne Sagsveen; Brandal, Kristin; Nakken, Sigve; Misceo, Doriana; Egeland, Thore; Munthe, Ludvig Andre; Brækken, Sigrun Kierulf; Undlien, Dag Erik.
A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. European Journal of Human Genetics 2012 ;Volum 20.(1) s. 58-63
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26 SLETTEDAL, IMER ØNDER; DAHL, HILDE MARGRETE; Sandvig, Inger; Dalmau, Josep; Strømme, Petter.
Ung jente med psykose, kognitiv svikt og kramper. Tidsskrift for Den norske legeforening 2012 ;Volum 132.(18) s. 2073-2076
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2011
27 Misceo, Doriana; Rødningen, Olaug Kristin; Barøy, Tuva; Sorte, Hanne Sørmo; Mellembakken, Jan Roar; Strømme, Petter; Fannemel, Madeleine; Frengen, Eirik.
A Translocation Between Xq21.33 and 22q13.33 Causes an Intragenic SHANK3 Deletion in a Woman With Phelan-McDermid Syndrome and Hypergonadotropic Hypogonadism. American Journal of Medical Genetics 2011 ;Volum 155.(2) s. 403-408
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28 Strømme, Petter; Dobrenis, Kostantin; Sillitoe, Roy V.; Gulinello, Maria; Ali, Nafeeza F.; Davidson, Christin; Micsenyi, Matthew C.; Stephney, Gloria; Ellevog, Linda; Klungland, Arne; Walkley, Steven U..
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction. Brain 2011 ;Volum 134. s. 3369-3383
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2010
29 Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Helle, Johan Robert; Fannemel, Madeleine; Strømme, Petter; Frengen, Eirik.
A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype. European Journal of Medical Genetics 2010 ;Volum 53.(4) s. 221-224
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30 Barøy, Tuva; Misceo, Doriana; Fannemel, Madeleine; Stormyr, Alice; Rødningen, Olaug Kristin; Helle, Johan Robert; Braaten, Øivind; Rustad, Cecilie F.; Kristiansen, Bjørn Evert; Sorte, Hanne Sørmo; Strømme, Petter; Frengen, Eirik.
Two girls with mental retardation and behavioural abnormalities: Is the deletion of the ATXN1 gene on 6p22.3 a major factor in causing the phenotype?. European Human Genetics Conference 2010; 2010-06-12 - 2010-06-15
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31 Kanavin, Øivind J.; Strømme, Petter.
Barn med nevrodegenerativ sykdom :. Tidsskrift for Den norske legeforening 2010 ;Volum 130.(15) s. 1489-1492
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32 Schroer, RJ; Holden, Kenton R.; Tarpey, Patrick; Matheus, MG; Griesemer, DA; Friez, MJ; Fan, Jane Z.; Simensen, Richard J.; Strømme, Petter; Stevenson, Roger E.; Stratton, Michael R; Schwartz, Charles.
Natural History of Christianson Syndrome. American Journal of Medical Genetics 2010 ;Volum 152A.(11) s. 2775-2783
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33 Strømme, P; Surén, Pål; Kanavin, ØJ; Rootwelt, T; Woldseth, Bente; Abdelnoor, Michael; Magnus, Per.
Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: A cohort study from Oslo, Norway. European journal of paediatric neurology 2010 ;Volum 14.(2) s. 138-145
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2009
34 Misceo, Doriana; Fannemel, Madeleine; Barøy, Tuva; Roberto, Roberta; Tvedt, B; Jaeger, T; Bryn, V; Strømme, Petter; Frengen, Eirik.
SCA27 caused by a chromosome translocation: further delineation of the phenotype. Neurogenetics 2009 ;Volum 10.(4) s. 371-374
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35 Roxrud, Ingrid; Raiborg, Camilla; Gilfillan, Gregor Duncan; Strømme, Petter; Stenmark, Harald Alfred.
Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease. Experimental Cell Research 2009 ;Volum 315.(17) s. 3014-3027
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2008
36 Bjurulf, B; Spetalen, S; Erichsen, A; Vanier, MT; Strom, EH; Strømme, Petter.
Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: Morphological findings in lung and nervous tissue. Medical Science Monitor 2008 ;Volum 14. s. CS71-CS75
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37 Gilfillan, Gregor Duncan; Selmer, Kaja Kristine; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Mårten; Eiklid, Kristin Louise; Kroken, Mette; Mattingsdal, Morten; Egeland, Thore; Stenmark, Harald Alfred; Sjøholm, Hans; Server, Andres Alonso; Samuelsson, Lena; Christianson, Arnold; Tarpey, Patrick; Whibley, Annabel; Stratton, Michael R.; Futreal, P. Andrew; Teague, Jon; Edikins, Sarah; Gecs, Jozef; Turner, Gillian; Raymond, F. Lucy; Schwartz, Charles; Stevenson, Roger E.; Undlien, Dag Erik; Strømme, Petter.
SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome. American Journal of Human Genetics 2008 ;Volum 82.(4) s. 1003-1010
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38 Strømme, Petter.
Artistisk kreativitet og Huntingtons sykdom. Tidsskrift for Den norske legeforening 2008 ;Volum 128.(19) s. 2226-2226
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39 Strømme, Petter.
Mental retardasjon. Tidsskrift for Den norske legeforening 2008 ;Volum 128.(7) s. 841-841
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40 Strømme, Petter.
Woody Guthrie and Huntington's Disease. I: The Brain and the Arts. Oslo: Koloritt 2008 ISBN 978-82-92395-64-6. s. 109-111
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41 Strømme, Petter.
Writings by parents. Literary descriptions of mentally handicapped children. I: The Brain and the Arts. Oslo: Koloritt 2008 ISBN 978-82-92395-64-6. s. 171-180
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42 Strømme, Petter; Magnus, Per; Kanavin, Øivind J.; Rootwelt, Terje; Woldseth, Berit; Abdelnoor, Michael.
Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study. Acta Paediatrica 2008 ;Volum 97.(1) s. 35-40
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2007
43 Kanavin, Øivind Juris; Woldseth, Berit; Jellum, Egil; Tvedt, Bjørn; Andresen, Brage S; Strømme, Petter.
2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. Journal of Medical Case Reports 2007
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44 Kleppa, Liv; Kanavin, Øivind Juris; Klungland, Arne; Strømme, Petter.
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. Neuroscience 2007 ;Volum 4. s. 1397-1406
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45 Strømme, Petter; Kanavin, Øivind Juris; Abdelnoor, Michael; Woldseth, Berit; Rootwelt, Terje; Diderichsen, Jørgen; Bjurulf, Bjørn; Sommer, Finn; Magnus, Per.
Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study. BMC Pediatrics 2007 ;Volum 7.
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46 Ørstavik, Karen Helene; Knudsen, Gun Peggy Strømstad; Nordgarden, Hilde; Ormerod, Eli; Strømme, Petter; Lazarou, Lazarous P; Rosser, Lyndon G; Prescott, Trine; Houge, Gunnar.
Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene. American Journal of Medical Genetics 2007 ;Volum 143.(13) s. 1510-1513
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2006
47 Kleppa, Liv; Kanavin, Ø.J; Klungland, Arne; Strømme, Petter.
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. Neuroscience 2006
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2005
48 Strømme, Petter; Hagen, Carl Birger van der; Haakonsen, Monica; Risberg, Knut; Hennekam, Raoul.
Follow-up of a girl with cleft lip and palate and multiple malformations: Trisomy 20 mosaicism. Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery 2005 ;Volum 39. s. 178-179
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2004
49 Matlary, Arpad; Prescott, Trine; Tvedt, B; Lindberg, Knut; Server, Andres Alonso; Aicardi, Jean; Strømme, Petter.
Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG. Clinical Dysmorphology 2004 ;Volum 13.(4) s. 257-260
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1999
50 Strømme, Petter; Sundet, Kjetil Søren; Mørk, Cato; Cassiman, J-J.; Fryns, J-P.; Claes, S..
X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11. Journal of Medical Genetics 1999 ;Volum 36.(5) s. 374-378
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