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Viser treff 1-19 av 19

2020
1 Henriksen, Mari Wold; Breck, Hilde; Sejersted, Yngve; Diseth, Trond H; von Tetzchner, Stephen; Paus, Benedicte; Skjeldal, Ola Hunsbeth.
Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome. Brain & development (Tokyo. 1979) 2020 ;Volum 42.(7) s. 484-495
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2 Henriksen, Mari Wold; Breck, Hilde; von Tetzchner, Stephen; Paus, Benedicte; Skjeldal, Ola, Hunsbeth.
Medical Issues in Adults with Rett Syndrome - A National Survey. Developmental Neurorehabilitation 2020 ;Volum 23.(2) s. 106-112
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2019
3 Böker, Tordis; Vanem, Thy Thy; Pripp, Are Hugo; Rand-Hendriksen, Svend; Paus, Benedicte; Smith, Hans-Jørgen; Lundby, Rigmor.
Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study. The spine journal 2019 ;Volum 19.(8) s. 1412-1421
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4 Bratlie, Sigrid; Halvorsen, Kristin; Myskja, Bjørn Kåre; Mellegård, Hilde; Bjorvatn, Cathrine; Frost, Petter; Heiene, Gunnar Harald; Hofmann, Bjørn Morten; Holst-Jensen, Arne; Holst-Larsen, Torolf; Malnes, Raino Sverre; Paus, Benedicte; Sandvig, Bente; Sjøli, Sonja Irene; Skarstein, Birgit; Thorseth, May Britt; Vagstad, Nils; Våge, Dag Inge; Borge, Ole Johan.
A novel governance framework for GMO : a tiered, more flexible regulation for GMOs would help to stimulate innovation and public debate. EMBO Reports 2019 ;Volum 20.(5) s. 1-4
CICERO MF NIBIO NTNU UiB UiO NMBU VETINST Untitled
 
5 Pope, Marita Knudsen; Ratajska, Aleksandra; Johnsen, Hilde; Rypdal, Karoline Bjarnesdatter; Sejersted, Yngve; Paus, Benedicte.
Diagnostics of Hereditary Connective Tissue Disorders by Genetic Next-Generation Sequencing. Genetic Testing and Molecular Biomarkers 2019 ;Volum 23.(11) s. 783-790
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6 Vanem, Thy Thy; Böker, Tordis; Sandvik, Gunhild Falleth; Kirkhus, Eva Astrid; Smith, Hans-Jørgen; Andersen, Kai; Drolsum, Liv; Lundby, Rigmor; Røe, Cecilie; Krohg-Sørensen, Kirsten; Geiran, Odd; Paus, Benedicte; Rand-Hendriksen, Svend.
Marfan syndrome: Evolving organ manifestations-A 10-year follow-up study.. American Journal of Medical Genetics. Part A 2019 ;Volum 182.(2) s. 397-408
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2018
7 Henriksen, Mari Wold; Breck, Hilde; von Tetzchner, Stephen; Paus, Benedicte; Skjeldal, Ola; Brodtkorb, Eylert.
Epilepsy in classic Rett syndrome: Course and characteristics in adult age. Epilepsy Research 2018 ;Volum 145. s. 134-139
NTNU OUS SI STO UiO VV Untitled
 
8 Henriksen, Mari Wold; Ravn, Kirstine; Paus, Benedicte; von Tetzchner, Stephen; Skjeldal, Ola.
De novo mutations in SCN1A are associated with classic Rett syndrome: A case report. BMC Medical Genetics 2018 ;Volum 19.(184) s. 1-5
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9 Paus, Benedicte.
Kanskje teste, ofte utrede, alltid veilede. Tidsskrift for Den norske legeforening 2018 ;Volum 138.(13) s. 1-3
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10 Paus, Benedicte.
Kanskje teste, ofte utrede, alltid veilede. Tidsskrift for Den norske legeforening 2018 ;Volum 138.(13) s. 1211-1211
UiO Untitled
 
11 Riise, Nina; Lindberg, Bjørn; Kulseth, Mari Ann; Fredwall, Svein Otto; Lundby, Rigmor; Estensen, Mette-Lise; Drolsum, Liv; Merckoll, Else; Krohg-Sørensen, Kirsten; Paus, Benedicte.
Clinical diagnosis of Larsen syndrome, Stickler syndrome and Loeys-Dietz syndrome in a 19-year old male: a case report. BMC Medical Genetics 2018 ;Volum 19.(155) s. 1-7
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12 Vanem, Thy Thy; Geiran, Odd; Krohg-Sørensen, Kirsten; Røe, Cecilie; Paus, Benedicte; Rand-Hendriksen, Svend.
Survival, causes of death, and cardiovascular events in patients with Marfan syndrome. Molecular Genetics & Genomic Medicine 2018 ;Volum 6.(6) s. 1114-1123
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2017
13 Krohg-Sørensen, Kirsten; Lingaas, Per Snorre; Lundblad, Runar; Seem, Egil; Paus, Benedicte; Geiran, Odd.
Cardiovascular surgery in Loeys-Dietz syndrome types 1-4. Journal of Cardiothoracic Surgery 2017 ;Volum 52.(6) s. 1125-1131
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2016
14 Nordstrøm, Marianne; Paus, Benedicte; Retterstøl, Kjetil; Kolset, Svein Olav.
The prevalence of metabolic risk factors of atherosclerotic cardiovascular disease in Williams syndrome, Prader–Willi syndrome, and Down syndrome. Journal of Intellectual & Developmental Disability 2016 ;Volum 41.(3) s. 187-196
FRAMBU OUS UiO Untitled
 
2015
15 Abrahamsen, Bjørg Johanne; Kulseth, Mari Ann; Paus, Benedicte.
A 19-year-old man with relapsing bilateral pneumothorax, hemoptysis, and intrapulmonary cavitary lesions diagnosed with vascular ehlers-danlos syndrome and a novel missense mutation in COL3A1. Chest 2015 ;Volum 147.(5) s. e166-e170
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16 Drolsum, Liv; Rand-Hendriksen, Svend; Paus, Benedicte; Geiran, Odd; Semb, Svein Ove.
Ocular findings in 87 adults with Ghent-1 verified Marfan syndrome. Acta Ophthalmologica 2015 ;Volum 93.(1) s. 46-53
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17 Nordstrøm, Marianne; Paus, Benedicte; Andersen, Lene Frost; Kolset, Svein Olav.
Dietary aspects related to health and obesity in Williams syndrome, Down syndrome, and Prader - Willi syndrome :. Food & Nutrition Research 2015 ;Volum 59.(25847) s. -
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18 Tjeldhorn, Lena; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rand-Hendriksen, Svend; Geiran, Odd; Frengen, Eirik; Paus, Benedicte.
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome. BMC Medical Genetics 2015 ;Volum 16.(113) s. -
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2013
19 Nordstrøm, Marianne; Hansen, Bjørge Hermann; Paus, Benedicte; Kolset, Svein Olav.
Accelerometer-determined physical activity and walking capacity in persons with Down syndrome, Williams syndrome and Prader-Willi syndrome. Research in Developmental Disabilities 2013 ;Volum 34.(12) s. 4395-4403
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