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발행년	- (예 : 2010-2015)

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Academic Journal

Stamberger, H.; Vlaskamp, D.R.M.; Bennett, M.F.; Berkovic, S.F.; Hildebrand, M.S.; Hollingsworth, G.; Schneider, A.L.; Scheffer, I.E.; Hammer, T.B.; Gardella, E.; Fenger, C.; Møller, R.S.; Bertelsen, B.; Mandelstam, S.; Leventer, R.J.; Mackay, M.T.; de Lange, I.; Brilstra, E.; Koeleman, B.P.C.; Verbeek, N.; Zhang, J.; Zhang, Y.-H.; Myers, C.T.; Almanza Fuerte, E.P.; Muir, A.M.; Mefford, H.C.; Afawi, Z.; Andrade, D.M.; Sadoway, T.; Balcik, Y.; Reif, P.S.; Rosenow, F.; Ben Zeev, B.; Heimer, G.; Lev, D.; Zerem, A.; Isidor, B.; Küry, S.; Bouman, A.; Stuurman, K.; Busk, Ø.L.; Helle, J.R.; Cairns, A.; Wallace, G.; Caumes, R.; Chatron, N.; Edery, P.; Lesca, G.; Monin, P.; Rossi, M.; Dale, R.C.; Gill, D.; Mohammad, S.S.; Procopis, P.; de Geus, C.; Granild-Jensen, J.B.; Gunderson, L.; Klee, E.W.; Morava, E.; Gunning, B.; Schelhaas, H.J.; Kharytonov, V.; Macke, E.L.; Koolen, D.A.; Korff, C.; McEntagart, M.; Montomoli, M.; Parrini, E.; Guerrini, R.; Moutton, S.; Ranza, E.; Reed, L.; Sadleir, L.G.; Shah, K.; Shalev, R.; Sisodiya, S.M.; Smol, T.; Stumpel, C.T.R.M.; Symonds, J.D.; Zuberi, S.M.; Mau-Them, F.T.; Verhoeven, J.S.; Yosovich, K.; Zarate, Y.A.; Patel, C.

In: Genetics in Medicine. (Genetics in Medicine, February 2021, 23(2):363-373)

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Hyperphagia, Mild Developmental Delay But Apparently No Structural Brain Anomalies in a Boy Without SOX3 Expression

Academic Journal

Helle, J.R.; Barøy, T.; Misceo, D.; Frengen, E.; Braaten, O.; Fannemel, M.

In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, May 2013, 161(5):1137-1142)

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Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability

Academic Journal

Barøy, T.; Misceo, D.; Stray-Pedersen, A.; Holmgren, A.; Rødningen, O.K.; Blomhoff, A.; Helle, J.R.; Stormyr, A.; Fannemel, M.; Frengen, E.; Strømme, P.; Tvedt, B.

In: Orphanet Journal of Rare Diseases. (Orphanet Journal of Rare Diseases, 2013, 8(1))

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1.5Mb deletion of chromosome 4p16.3 associated with postnatal growth delay, psychomotor impairment, epilepsy, impulsive behavior and asynchronous skeletal development

Academic Journal

Misceo, D.; Barøy, T.; Helle, J.R.; Braaten, Ø.; Fannemel, M.; Frengen, E.

In: Gene. (Gene, 1 October 2012, 507(1):85-91)

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A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype

Academic Journal

Barøy, T.; Misceo, D.; Frengen, E.; Braaten, T.; Helle, J.R.; Fannemel, M.; Strømme, P.

In: European Journal of Medical Genetics. (European Journal of Medical Genetics, July 2010, 53(4):221-224)

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Genetic counselling in presymptomatic testing for Huntington's disease

Academic Journal

Helle, J.R.; Braathen, G.J.; Pedersen, J.C.; Skodje, T.; Stokke, B.; Berg, K.

In: Tidsskrift for den Norske Laegeforening. (Tidsskrift for den Norske Laegeforening, 30 August 2000, 120(20):2412-2416)

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Diagnostic DNA testing for Huntington's disease

Academic Journal

Helle, J.R.; Braathen, G.J.; Skodje, T.; Berg, K.

In: Tidsskrift for den Norske Laegeforening. (Tidsskrift for den Norske Laegeforening, 30 August 2000, 120(20):2408-2410)

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The Norwegian procedure in connection with presymptomatic testing for Huntington disease

Academic Journal

Helle, J.R.; Braathen, G.J.; Pedersen, J.C.; Stokke, B.; Berg, K.

In: Tidsskrift for den Norske laegeforening. (Tidsskrift for den Norske laegeforening, 30 Aug 2000, 120(20):2417)

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Controlled-release levodopa in the treatment of Parkinson's disease

Academic Journal

Larsen, J.P.; Nessler, E.G.; Hestnes, A.; Vilming, S.; Holmsen, R.; Aksnes, V.; Johnson, S.; Brodtkorb, E.; Hunstad, N.A.; Helle, J.R.

In: Tidsskrift for den Norske Laegeforening. (Tidsskrift for den Norske Laegeforening, 1991, 111(26):3163-3166)

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