E-LIB Suche - Ergebnisse für: Wikman, Friedrik P

1

A Novel Locus Harbouring a Functional CD164 Nonsense Mutati..:

Nyegaard, Mette ; Rendtorff, Nanna D. ; Nielsen, Morten S....
PLOS Genetics. 11 (2015) 7 - p. e1005386 , 2015

Link: https://doi.org/10.1371/..

2

Leiden open variation database of the MUTYH gene:

Out, Astrid A. ; Tops, Carli M.J. ; Nielsen, Maartje...
Human Mutation. 31 (2010) 11 - p. 1205-1215 , 2010

Link: https://doi.org/10.1002/..

3

Functional characterization of rare missense mutations in M..:

Christensen, Lise Lotte ; Kariola, Reetta ; Korhonen, Mari K....
Familial Cancer. 8 (2009) 4 - p. 489-500 , 2009

Link: https://doi.org/10.1007/..

4

The association between genetic variants in hMLH1 and hMSH2..:

Christensen, Lise Lotte ; Madsen, Bo E ; Wikman, Friedrik P...
BMC Medical Genetics. 9 (2008) 1 - p. , 2008

Link: https://doi.org/10.1186/..

5

Major contribution from recurrent alterations and MSH6 muta..:

Nilbert, Mef ; Wikman, Friedrik P. ; Hansen, Thomas V. O....
Familial Cancer. 8 (2008) 1 - p. 75-83 , 2008

Link: https://doi.org/10.1007/..

6

Genotyping and annotation of Affymetrix SNP arrays:

Lamy, Philippe ; Andersen, Claus L. ; Wikman, Friedrik P..
Nucleic Acids Research. 34 (2006) 14 - p. e100-e100 , 2006

Link: https://doi.org/10.1093/..

7

Presymptomatic diagnosis using a deletion of a single codon..:

Ripa, Rasmus S. ; Katballe, Niels ; Wikman, Friedrik P....
Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis. 570 (2005) 1 - p. 89-96 , 2005

Link: https://doi.org/10.1016/..

8

Evaluation of the Performance of a p53 Sequencing Microarra..:

Ørntoft, Torben F ; Cordon-Cardo, Carlos ; Andersen, Lars D...
Clinical Chemistry. 46 (2000) 10 - p. 1555-1561 , 2000

Link: https://doi.org/10.1093/..

9

Crosslinking of tRNA containing a long extra arm to elongat..:

Rasmussen, Nils-Jørgen ; Wikman, Friedrik P. ; Clark, B.F.C.
Nucleic Acids Research. 18 (1990) 16 - p. 4883-4890 , 1990

Link: https://doi.org/10.1093/..

10

A Novel Locus Harbouring a Functional CD164 Nonsense Mutati..:

Nyegaard, Mette ; Rendtorff, Nanna D ; Nielsen, Morten S...
https://vbn.aau.dk/da/publications/eb803dc8-440b-489a-a85c-b4ca5a888b38. , 2015

Link: https://vbn.aau.dk/da/pu..

11

A Novel Locus Harbouring a Functional CD164 Nonsense Mutati..:

Nyegaard, Mette ; Rendtorff, Nanna D ; Nielsen, Morten S...
Nyegaard , M , Rendtorff , N D , Nielsen , M S , Corydon , T J , Demontis , D , Starnawska , A , Hedemand , A , Buniello , A , Niola , F , Overgaard , M T , Leal , S M , Ahmad , W , Wikman , F P , Petersen , K B , Crüger , D G , Oostrik , J , Kremer , H , Tommerup , N , Frödin , M , Steel , K P , Tranebjærg , L & Børglum , A D 2015 , ' A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment ' , PL o S Genetics , vol. 11 , no. 7 , e1005386 . https://doi.org/10.1371/journal.pgen.1005386. , 2015

Link: https://kclpure.kcl.ac.u..

12

A Novel Locus Harbouring a Functional CD164 Nonsense Mutati..:

Nyegaard, Mette ; Rendtorff, Nanna D ; Nielsen, Morten S...
Nyegaard , M , Rendtorff , N D , Nielsen , M S , Corydon , T J , Demontis , D , Starnawska , A , Hedemand , A , Buniello , A , Niola , F , Overgaard , M T , Leal , S M , Ahmad , W , Wikman , F P , Petersen , K B , Crüger , D G , Oostrik , J , Kremer , H , Tommerup , N , Frödin , M , Steel , K P , Tranebjærg , L & Børglum , A D 2015 , ' A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment ' , PL o S Genetics , vol. 11 , no. 7 , e1005386 . https://doi.org/10.1371/journal.pgen.1005386. , 2015

Link: https://kclpure.kcl.ac.u..

13

The association between genetic variants in hMLH1and hMSH2a..:

Christensen, Lise ; Madsen, Bo E ; Wikman, Friedrik P...
http://www.biomedcentral.com/1471-2350/9/52. , 2008

Link: http://www.biomedcentral..

14

The association between genetic variants in hMLH1 and hMSH2..:

Syvänen Ann-Christine ; Olsen Anja ; Tjønneland Anne...
http://www.biomedcentral.com/1471-2350/9/52. , 2008

Link: https://doi.org/10.1186/..

15

Genotyping and annotation of Affymetrix SNP arrays:

Lamy, Philippe ; Andersen, Claus L ; Wikman, Friedrik P.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1557804. , 2006

Link: http://www.ncbi.nlm.nih...