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

1

Deleterious mis‐splicing of STK11 caused by a novel single‐..:

Terkelsen, Thorkild ; Larsen, Ole H. ; Vang, Søren..
Molecular Genetics & Genomic Medicine. 8 (2020) 9 - p. , 2020

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

2

New Pathogenic Germline Variants in Very Early Onset and Fa..:

Djursby, Malene ; Madsen, Majbritt B. ; Frederiksen, Jane H....
Frontiers in Genetics. 11 (2020) - p. , 2020

Link: https://doi.org/10.3389/..

3

New Pathogenic Germline Variants in Very Early Onset and Fa..:

Djursby, Malene ; Madsen, Majbritt B ; Frederiksen, Jane H...
https://vbn.aau.dk/da/publications/1c584273-764b-4cd2-88dd-5d1a9af02d9d. , 2020

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

4

New Pathogenic Germline Variants in Very Early Onset and Fa..:

Djursby, Malene ; Madsen, Majbritt B ; Frederiksen, Jane H...
Djursby , M , Madsen , M B , Frederiksen , J H , Berchtold , L A , Therkildsen , C , Willemoe , G L , Hasselby , J P , Wikman , F , Okkels , H , Skytte , A B , Nilbert , M , Wadt , K , Gerdes , A M & van Overeem Hansen , T 2020 , ' New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients ' , Frontiers in Genetics , vol. 11 , 566266 . https://doi.org/10.3389/fgene.2020.566266. , 2020

Link: https://pure.au.dk/porta..

5

New Pathogenic Germline Variants in Very Early Onset and Fa..:

Malene Djursby ; Majbritt B. Madsen ; Jane H. Frederiksen...
https://www.frontiersin.org/article/10.3389/fgene.2020.566266/full. , 2020

Link: https://doi.org/10.3389/..

6

Table_1_New Pathogenic Germline Variants in Very Early Onse..:

Malene Djursby ; Majbritt B. Madsen ; Jane H. Frederiksen...
doi:10.3389/fgene.2020.566266.s001. , 2020

Link: https://doi.org/10.3389/..

7

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/..

8

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..

9

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..

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..:

Mette Nyegaard ; Nanna D Rendtorff ; Morten S Nielsen...
http://europepmc.org/articles/PMC4510537?pdf=render. , 2015

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

12

Functional examination of MLH1, MSH2, and MSH6 intronic mut..:

Petersen, Sanne M ; Dandanell, Mette ; Rasmussen, Lene J...
BMC Medical Genetics. 14 (2013) 1 - p. , 2013

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

13

Frequent genomic loss at chr16p13.2 is associated with poor..:

Andersen, Claus Lindbjerg ; Lamy, Philippe ; Thorsen, Kasper...
International Journal of Cancer. 129 (2011) 8 - p. 1848-1858 , 2011

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

14

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/..

15

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/..