E-LIB Suche - Ergebnisse für: van Tienhoven, Marianne

1

Identification of Rare Variants Involved in High Myopia Unr..:

Haarman, Annechien E.G. ; Klaver, Caroline C.W. ; Tedja, Milly S....
Ophthalmology Science. 3 (2023) 4 - p. 100303 , 2023

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

2

Clinical Relevance of Rapid FOXF1-Targeted Sequencing in Pa..:

Edel, Gabriëla G. ; Hol, Janna A. ; Slot, Evelien...
Laboratory Investigation. 103 (2023) 11 - p. 100233 , 2023

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

3

Whole exome sequencing of known eye genes reveals genetic c..:

Haarman, Annechien E G ; Thiadens, Alberta A H J ; van Tienhoven, Marianne...
Human Molecular Genetics. 31 (2022) 19 - p. 3290-3298 , 2022

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

4

Early onset X‐linked female limited high myopia in three mu..:

Mazijk, Ralph ; Haarman, Annechien E.G. ; Hoefsloot, Lies H....
Human Mutation. 43 (2022) 3 - p. 380-388 , 2022

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

5

Human Neuropathy Target Esterase Catalyzes Hydrolysis of Me..:

van Tienhoven, Marianne ; Atkins, Jane ; Li, Yong.
Journal of Biological Chemistry. 277 (2002) 23 - p. 20942-20948 , 2002

Link: https://doi.org/10.1074/..

6

Early onset X-linked female limited high myopia in three mu..:

van Mazijk, Ralph ; Haarman, Annechien E.G ; Hoefsloot, Lies H...
van Mazijk , R , Haarman , A E G , Hoefsloot , L H , Polling , J R , van Tienhoven , M , Klaver , C C W , Verhoeven , V J M , Loudon , S E , Thiadens , A A H J & Kievit , A J A 2022 , ' Early onset X-linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene ' , Human Mutation , vol. 43 , no. 3 , pp. 380-388 . https://doi.org/10.1002/humu.24327. , 2022

Link: https://pure.eur.nl/en/p..

7

Early onset X‐linked female limited high myopia in three mu..:

van Mazijk, Ralph ; Haarman, Annechien E.G ; Hoefsloot, Lies H...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9303208/. , 2022

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

8

Next-generation sequencing-based genome diagnostics across ..:

Vrijenhoek, Terry ; Kraaijeveld, Ken ; Elferink, Martin...
https://research.rug.nl/en/publications/6738b4b5-4e88-4092-bb23-75df61342f7d. , 2015

Link: https://hdl.handle.net/1..

9

Erratum : Next-generation sequencing-based genome diagnosti..:

Vrijenhoek, Terry ; Kraaijeveld, Ken ; Elferink, Martin...
1018-4813. , 2015

Link: https://dspace.library.u..

10

Next-generation sequencing-based genome diagnostics across ..:

Vrijenhoek, Terry ; Kraaijeveld, Ken ; Elferink, Martin...
Vrijenhoek , T , Kraaijeveld , K , Elferink , M , de Ligt , J , Kranendonk , E , Santen , G , Nijman , I J , Butler , D , Claes , G , Costessi , A , Dorlijn , W , van Eyndhoven , W , Halley , D J J , van den Hout , M C G N , van Hove , S , Johansson , L F , Jongbloed , J D H , Kamps , R , Kockx , C E M , de Koning , B , Kriek , M , Deprez , R L D , Lunstroo , H , Mannens , M , Mook , O R , Nelen , M , Ploem , C , Rijnen , M , Saris , J J , Sinke , R , Sistermans , E , van Slegtenhorst , M , Sleutels , F , van der Stoep , N , van Tienhoven , M , Vermaat , M , Vogel , M , Waisfisz , Q , Weiss , J M , van den Wijngaard , A , van Workum , W , Ijntema , H , van der Zwaag , B , van IJcken , W F J , den Dunnen , J T , Veltman , J A , Hennekam , R & Cuppen , E 2015 , ' Next-generation sequencing-based genome diagnostics across clinical genetics centers : implementation choices and their effects ' , European Journal of Human Genetics , vol. 23 , no. 9 , pp. 1270 . https://doi.o.... , 2015

Link: https://pure.knaw.nl/por..

11

Next-generation sequencing-based genome diagnostics across ..:

Vrijenhoek, Terry ; Kraaijeveld, Ken ; Elferink, Martin...
Vrijenhoek , T , Kraaijeveld , K , Elferink , M , de Ligt , J , Kranendonk , E , Santen , G , Nijman , I J , Butler , D , Claes , G , Costessi , A , Dorlijn , W , van Eyndhoven , W , Halley , D J J , van den Hout , M C G N , van Hove , S , Johansson , L F , Jongbloed , J D H , Kamps , R , Kockx , C E M , de Koning , B , Kriek , M , Lekanne Dit Deprez , R , Lunstroo , H , Mannens , M , Nelen , M , Ploem , C , Rijnen , M , Saris , J J , Sinke , R , Sistermans , E , van Slegtenhorst , M , Sleutels , F , van der Stoep , N , van Tienhoven , M , Vermaat , M , Vogel , M , Waisfisz , Q , Marjan Weiss , J , van den Wijngaard , A , van Workum , W , Ijntema , H , van der Zwaag , B , van IJcken , W F , den Dunnen , J , Veltman , J A , Hennekam , R & Cuppen , E 2015 , ' Next-generation sequencing-based genome diagnostics across clinical genetics centers : implementation choices and their effects ' , European Journal of Human Genetics . https://doi.org/10.1038/ejhg.2014.279. , 2015

Link: https://pure.knaw.nl/por..

12

Corrigenda: Next-generation sequencing-based genome diagnos..:

Vrijenhoek, Terry ; Kraaijeveld, Ken ; Elferink, Martin...
https://research.rug.nl/en/publications/71b43c37-eaf6-4d5e-a38a-51c169c10a75. , 2015

Link: https://hdl.handle.net/1..

13

Next-generation sequencing-based genome diagnostics across ..:

Vrijenhoek, Terry ; Kraaijeveld, Ken ; Elferink, Martin...
1018-4813. , 2015

Link: https://dspace.library.u..

14

Next-generation sequencing-based genome diagnostics across ..:

Vrijenhoek, T ; Kraaijeveld, K ; Elferink, M...
Vrijenhoek , T , Kraaijeveld , K , Elferink , M , de Ligt , J , Kranendonk , E , Santen , G , Nijman , IJ , Butler , D , Claes , G , Costessi , A , Dorlijn , W , van Eyndhoven , W , Halley , D , Van den Hout - van Vroonhoven , M , van Hove , S , Johansson , LF , Jongbloed , JDH , Kamps , R , Kockx , C , de Koning , B , Kriek , M , Deprez , RLD , Lunstroo , H , Mannens , M , Mook , OR , Nelen , M , Ploem , C , Rijnen , M , Saris , J , Sinke , R , Sistermans , E , van Slegtenhorst , M , Sleutels , F , van der Stoep , N , Tienhoven , M , Vermaat , M , Vogel , M , Waisfisz , Q , Weiss , JM , van den Wijngaard , A , van Workum , W , Ijntema , H , Van der Zwaag , B , van Ijcken , W , den Dunnen , J , Veltman , JA , Hennekam , R & Cuppen , E 2015 , ' Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects ' , European Journal of Human Genetics , vol. 23 , no. 9 , pp. 1142-1150 . https://doi.org/10.1038/ejh.... , 2015

Link: https://pure.eur.nl/en/p..

15

Next-generation sequencing-based genome diagnostics across ..:

Vrijenhoek, Terry ; Kraaijeveld, Ken ; Elferink, Martin...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538197/. , 2015

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