Current Research Information SysTem In Norway
 
 

 English version


 
Hovedside
Forskningsresultater/NVI
Forskere
Prosjekter
Forskningsenheter
Logg inn
Om Cristin
 
 
   
Eksporter til


Viser treff 1-15 av 15

2020
1 Brede, Katrine Kjenstadbakk; Wandel, Margareta; Wiig, Ingrid; von der Lippe, Charlotte.
Primary Immunodeficiency Diseases and Gastrointestinal Distress: Coping Strategies and Dietary Experiences to Relieve Symptoms. Qualitative Health Research 2020 ;Volum 31.(2) s. 361-372
OUS UiO Untitled
 
2 Hansen Tillerås, Kristine; Kjølaas Hagen, Siri; Dramstad, Elisabeth; Feragen, Kristin Judith Billaud; von der Lippe, Charlotte.
Psychological reactions to predictive genetic testing for Huntington’s disease: A qualitative study. Journal of Genetic Counseling 2020 ;Volum 29.(6) s. 1093-1105
OUS Untitled
 
3 Skjefstad, Kaja Konstanse; Solberg, Olga; Glosli, Heidi; von der Lippe, Charlotte; Feragen, Kristin Judith Billaud.
Life expectancy and cause of death in individuals with haemophilia A and B in Norway, 1986-2018. European Journal of Haematology 2020 ;Volum 105.(5) s. 608-615
OUS Untitled
 
4 Tønne, Elin; Due-Tønnessen, Bernt Johan; Mero, Inger-Lise; Wiig, Ulrikke Straume; Kulseth, Mari Ann; Vigeland, Magnus Dehli; Sheng, Ying; Lippe, Charlotte von der; Tveten, Kristian; Meling, Torstein Ragnar; Helseth, Eirik; Heimdal, Ketil Riddervold.
Benefits of clinical criteria and high-throughput sequencing for diagnosing children with syndromic craniosynostosis. European Journal of Human Genetics 2020 ;Volum 00.(0) s. 1-10
OUS STHF UiO Untitled
 
5 Zelihić, Deniz; Hjardemaal, Finn Rudolf; von der Lippe, Charlotte.
Caring for a child with Bardet-Biedl syndrome: A qualitative study of the parental experiences of daily coping and support. European Journal of Medical Genetics 2020 ;Volum 63.(4) s. -
USN OUS Untitled
 
2019
6 Cogne, Benjamin; Ehresmann, Sophie; Beauregard-Lacroix, Eliane; Rousseau, Justine; Besnard, Thomas; Garcia, Thomas; Petrovski, Slavé; Avni, Shiri; McWalter, Kirsty; Blackburn, Patrick R.; Sanders, Stephan J.; Uguen, Kévin; Harris, Jacqueline; Cohen, Julie S.; Blyth, Moira; Lehman, Anne; Berg, Jonathan; Li, Mindy H.; Kini, Usha; Joss, Shelagh; von der Lippe, Charlotte; Gordon, Christopher T.; Humberson, Jennifer; Robak, Laurie; Scott, Daryl A.; Sutton, Vernon R.; Skraban, Cara M.; Johnston, Jennifer; Poduri, Annapurna; Nordenskjöld, Magnus; Shashi, Vandana; Gerkes, Erica H.; Bongers, Ernie M.H.F.; Gilissen, Christian; Zarate, Yuri A.; Kvarnung, Malin; Lally, Kevin P.; Kulch, Peggy A.; Daniels, Brina; Hernández-Garcia, Andrés; Stong, Nicholas; McGaughran, Julie; Retterer, Kyle; Tveten, Kristian; Sullivan, Jennifer; Geisheker, Madeleine R.; Stray-Pedersen, Asbjørg; Tarpinian, Jennifer; Klee, Eric W.; Sapp, Julie C.; Zyskind, Jacob; Holla, Øystein Lunde; Bedoukain, Emma; Filippini, Francesca; Guimier, Anne; Picard, Arnaud; Busk, Øyvind; Punetha, Jaya; Pfundt, Rolph; Lindstrand, Anna; Nordgren, Ann; Kalb, Fayth; Desai, Megha; Ebanks, Ashley Harmon; Jhangiani, Shalini N.; Dewan, Tammie; Akdemir, Zeynep H. Coban; Telegrafi, Aida; Zackai, Elaine H.; Begtrup, Amber; Song, Xiaofei; Toutain, Annick; Wentzensen, Ingrid; Odent, Sylvie; Bonneau, Dominique; Latypova, Xénia; Deb, Wallid; Redon, Sylvia; Bilan, Frédéric; Legendre, Marine; Troyer, Caitlin; Whitlock, Kerri; Caluseriu, Oana; Murphree, Marine I; Pichurin, Pavel N; Agre, Katherine; Gavrilova, Ralitza; Rinne, Tuula; Park, Meredith; Shain, Catherine; Heinzen, Erin L.; Xiao, Rui; Amiel, Jeanne; Lyonnet, Stanislas; Isidor, Bertand; Biesecker, Leslie G.; Lowenstein, Dan; Posey, Jennifer E.; Denommé-Pichon, Anne-Sophie; Férec, Claude; Yang, Xiang-Jiao; Rosenfeld, Jill A; Gilbert-Dussardier, Brigitte; Audebert-Bellanger, Séverine; Redon, Richard; Stessman, Holly A.F.; Nellaker, Christoffe; Yang, Yaping; Lupski, James R.; Goldstein, David B.; Eichler, Evan E.; Bolduc, Francois; Bézieau, Stéphane; Küry, Sébastien; Campeau, Philippe M..
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability. American Journal of Human Genetics 2019 ;Volum 104.(3) s. 530-541
OUS STHF STO Untitled
 
2017
7 Lippe, Charlotte von der; Frich, Jan C; Harris, Anna; Solbrække, Kari Nyheim.
Treatment of hemophilia: A qualitative study of mothers’ perspectives. Pediatric Blood & Cancer 2017 ;Volum 64. s. 121-127
OUS UiO Untitled
 
8 Moortgat, Stéphanie; Berland, Siren; Aukrust, Ingvild; Maystadt, Isabelle; Baker, Laura; Benoit, Valerie; Caro-Llopis, Alfonso; Cooper, Nicola S.; Debray, François-Guillaume; Faivre, Laurence; Gardeitchik, Thatjana; Haukanes, Bjørn Ivar; Houge, Gunnar; Kivuva, Emma; Martinez, Francisco; Mehta, Sarju G.; Nassogne, Marie-Cécile; Powell-Hamilton, Nina; Pfundt, Rolph; Rosello, Monica; Prescott, Trine; Vasudevan, Pradeep; van Loon, Barbara; Verellen-Dumoulin, Christine; Verloes, Alain; von der Lippe, Charlotte; Wakeling, Emma; Wilkie, Andrew O.M.; Wilson, Louise; Yuen, Amy; Low, Karen J.; Newbury-Ecob, Ruth A..
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients. European Journal of Human Genetics 2017 ;Volum 26. s. 64-74
HAUKELAND NTNU STHF STO Untitled
 
9 Ngcungcu, Thandiswa; Oti, Martin; Sitek, Jan Cezary; Haukanes, Bjørn Ivar; Linghu, Bolan; Bruccoleri, Robert; Stokowy, Tomasz; Oakeley, Edward J.; Yang, Fan; Zhu, Jiang; Sultan, Marc; Schalkwijk, Joost; van Vlijmen-Willems, Ivonne M.J.J.; HELLELAND, CHARLOTTE; Brunner, Han G.; Ersland, Kari Merete; Grayson, Wayne; Buechmann-Moller, Stine; Sundnes, Olav; Nirmala, Nanguneri; Morgan, Thomas M.; van Bokhoven, Hans; Steen, Vidar Martin; Hull, Peter R.; Szustakowski, Joseph; Staedtler, Frank; Zhou, Huiqing; Fiskerstrand, Torunn; Ramsay, Michele.
Duplicated enhancer region increases expression of CTSB and segregates with keratolytic winter erythema in South African and Norwegian families. American Journal of Human Genetics 2017 ;Volum 100.(5) s. 737-750
HAUKELAND OUS UiB Untitled
 
10 von der Lippe, Charlotte; Diesen, Plata Sofie; Feragen, Kristin Judith Billaud.
Living with a rare disorder: a systematic review of the qualitative literature. Molecular Genetics & Genomic Medicine 2017 ;Volum 5.(6) s. 758-773
OUS Untitled
 
11 von der Lippe, Charlotte; Frich, Jan C; Harris, Anna; Solbrække, Kari Nyheim.
“It was a lot tougher than I thought it would be”: A qualitative study on the changing nature of being a hemophilia carrier. Journal of Genetic Counseling 2017 ;Volum 26.(6) s. 1324-1332
OUS UiO Untitled
 
2016
12 Lippe, Charlotte von der; Frich, Jan C; Harris, Anna; Solbrække, Kari Nyheim.
Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study. Journal of Genetic Counseling 2016 ;Volum 25.(5) s. 1085-1092
OUS UiO Untitled
 
2014
13 Helleland, Charlotte; Roscher, Ingrid; Nordgarden, Hilde; Rustad, Cecilie; Larsen, Selma Mujezinovic; Mjøen, Even; Bratland, Åse.
Mann med stort hode, lærevansker og multiple basalcellekarsinomer. Tidsskrift for Den norske legeforening 2014 ;Volum 134.(11) s. 1151-1154
LDS OUS Untitled
 
2011
14 von der Lippe, Charlotte; Rustad, Cecilie; Heimdal, Ketil Riddervold; Rødningen, Olaug Kristin.
15q11.2 microdeletion - Seven new patients with delayed development and/or behavioural problems. European Journal of Medical Genetics 2011 ;Volum 54.(3) s. 357-360
OUS Untitled
 
2009
15 Molven, Anders; Søvik, Oddmund; Lippe, Charlotte von der; Steine, Solrun; Njølstad, Pål Rasmus; Houge, Gunnar; Prescott, Trine E..
Mutasjonsdiagnostikk ved syndromer knyttet til RAS/MAPK-signalveien. Tidsskrift for Den norske legeforening 2009 ;Volum 129.(22) s. 2358-2361
HAUKELAND OUS UiB Untitled