Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
---|---|---|---|
1 |
Material Type: Article
|
![]() |
Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)Schuster, Jens ; Hoeber, Jan ; Sobol, Maria ; Fatima, Ambrin ; Annerén, Göran ; Dahl, NiklasStem cell research, 2020-12, Vol.49, p.102081-102081 [Peer Reviewed Journal]Full text available |
2 |
Material Type: Article
|
![]() |
Identification and Analysis of Mutations in the Wilson Disease Gene ( ATP7B): Population Frequencies, Genotype-Phenotype Correlation, and Functional AnalysesShah, Anjali B ; Chernov, Igor ; Zhang, Hong Tao ; Ross, Barbara M ; Das, Kamna ; Lutsenko, Svetlana ; Parano, Enrico ; Pavone, Lorenzo ; Evgrafov, Oleg ; Ivanova-Smolenskaya, Irina A ; Annerén, Göran ; Westermark, Kerstin ; Urrutia, Francisco Hevia ; Penchaszadeh, Graciela K ; Sternlieb, Irmin ; Scheinberg, I. Herbert ; Gilliam, T. Conrad ; Petrukhin, KonstantinAmerican journal of human genetics, 1997, Vol.61 (2), p.317-328 [Peer Reviewed Journal]Full text available |
3 |
Material Type: Article
|
![]() |
Genetics of Mental Retardation - An Overview Encompassing Learning Disability and Intellectual Disability: Book ReviewsAnnerén, GöranActa pædiatrica (Oslo), 2011-04, Vol.100 (4), p.629-630 [Peer Reviewed Journal]Full text available |
4 |
Material Type: Article
|
![]() |
FISH-mapping of a 100-kb terminal 22q13 deletionAnderlid, Britt-Marie ; Schoumans, Jacqueline ; Annerén, Göran ; Tapia-Paez, Isabel ; Dumanski, Jan ; Blennow, Elisabeth ; Nordenskjöld, MagnusHuman genetics, 2002-05, Vol.110 (5), p.439-443 [Peer Reviewed Journal]Full text available |
5 |
Material Type: Article
|
![]() |
Molecular genetic analysis of a de novo balanced translocation t(6;17)(p21.31;q11.2) associated with hypospadias and anorectal malformationMansouri, Mahmoud Reza ; Mansouri, Mahmoud Reza ; Carlsson, Birgit ; Carlsson, Birgit ; Davey, Edward ; Davey, Edward ; Nordenskjöld, Agneta ; Nordenskjöld, Agneta ; Wester, Tomas ; Wester, Tomas ; Annerén, Göran ; Annerén, Göran ; Läckgren, Göran ; Läckgren, Göran ; Dahl, Niklas ; Dahl, NiklasHuman genetics, 2006-03, Vol.119 (1), p.162-168 [Peer Reviewed Journal]Full text available |
6 |
Material Type: Article
|
![]() |
Noonan syndrome and related disorders: a matter of dysregulated ras signallingAnnerén, GöranActa pædiatrica (Oslo), 2009-05, Vol.98 (5), p.920-920 [Peer Reviewed Journal]Full text available |
7 |
Material Type: Article
|
![]() |
A SWI/SNF-related autism syndrome caused by de novo mutations in ADNPHelsmoortel, C ; Silfhout, A.T. van ; Coe, B.P ; Vandeweyer, G ; Rooms, L ; Ende, J. van den ; Schuurs-Hoeijmakers, J.H.M ; Marcelis, C.L.M ; Willemsen, M.H ; Vissers, L.E.L.M ; Yntema, H.G ; Bakshi, M ; Wilson, M ; Witherspoon, K.T ; Malmgren, H ; Nordgren, A ; Anneren, G ; Fichera, M ; Bosco, P ; Romano, C ; Vries, L.B.A. de ; Kleefstra, T ; Kooy, R.F ; Eichler, E.E ; Aa, N. van derNature genetics, 2014, Vol.46 (4), p.380-384 [Peer Reviewed Journal]Full text available |
8 |
Material Type: Article
|
![]() |
Preventive health care for children with genetic conditions providing primary care medical home, 2nd editionAnnerén, GöranActa pædiatrica (Oslo), 2008-01, Vol.97 (1), p.136-136 [Peer Reviewed Journal]Full text available |
9 |
Material Type: Article
|
![]() |
RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesityKLAR, Joakim ; ASLING, Bengt ; DAHL, Niklas ; CARLSSON, Birgit ; ULVSBÄCK, Magnus ; DELLSEN, Anita ; STRÖM, Carina ; RHEDIN, Magdalena ; FORSLUND, Anders ; ANNEREN, Goran ; LUDVIGSSON, Jonas FEuropean journal of human genetics : EJHG, 2005-08, Vol.13 (8), p.928-934 [Peer Reviewed Journal]Full text available |
10 |
Material Type: Article
|
![]() |
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafishGudmundsson, Sanna ; Wilbe, Maria ; Filipek-Górniok, Beata ; Molin, Anna-Maja ; Ekvall, Sara ; Johansson, Josefin ; Allalou, Amin ; Gylje, Hans ; Kalscheuer, Vera M ; Ledin, Johan ; Annerén, Göran ; Bondeson, Marie-LouiseScientific reports, 2019-07-24, Vol.9 (1), p.10730-11 [Peer Reviewed Journal]Full text available |