E-LIB Suche - Ergebnisse für: van Mil, Saskia E.

1

High-Level MYCN-Amplified RB1-Proficient Retinoblastoma Tum..:

Roohollahi, Khashayar ; de Jong, Yvonne ; van Mil, Saskia E....
Ophthalmology Science. 2 (2022) 3 - p. 100188 , 2022

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

2

Loss of FLCN-FNIP1/2 induces a non-canonical interferon res..:

Glykofridis, Iris E ; Knol, Jaco C ; Balk, Jesper A...
eLife. 10 (2021) - p. , 2021

Link: https://doi.org/10.7554/..

3

Effective CRISPR/Cas9-mediated correction of a Fanconi anem..:

van de Vrugt, Henri J. ; Harmsen, Tim ; Riepsaame, Joey...
Scientific Reports. 9 (2019) 1 - p. , 2019

Link: https://doi.org/10.1038/..

4

Genomic landscape of retinoblastoma in Rb−/−p130−/− mice re..:

Kooi, Irsan E. ; van Mil, Saskia E. ; MacPherson, David...
Genes, Chromosomes and Cancer. 56 (2016) 3 - p. 231-242 , 2016

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

5

Somatic genomic alterations in retinoblastoma beyond RB1 ar..:

Kooi, Irsan E. ; Mol, Berber M. ; Massink, Maarten P. G....
Scientific Reports. 6 (2016) 1 - p. , 2016

Link: https://doi.org/10.1038/..

6

Loss of photoreceptorness and gain of genomic alterations i..:

Kooi, Irsan E. ; Mol, Berber M. ; Moll, Annette C....
EBioMedicine. 2 (2015) 7 - p. 660-670 , 2015

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

7

DNA helicases FANCM and DDX11 are determinants of PARP inhi..:

Stoepker, Chantal ; Faramarz, Atiq ; Rooimans, Martin A....
DNA Repair. 26 (2015) - p. 54-64 , 2015

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

8

Proper genomic profiling of (BRCA1‐mutated) basal‐like brea..:

Massink, Maarten P.G. ; Kooi, Irsan E. ; van Mil, Saskia E....
Molecular Oncology. 9 (2015) 4 - p. 877-888 , 2015

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

9

A Novel Splice Site Mutation in the Noncoding Region ofBRCA..:

Bakker, Janine L. ; Thirthagiri, Eswary ; van Mil, Saskia E....
Human Mutation. 35 (2014) 4 - p. 442-446 , 2014

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

10

Analysis of the Novel Fanconi Anemia GeneSLX4/FANCPin Famil..:

Bakker, Janine L. ; van Mil, Saskia E. ; Crossan, Gerry...
Human Mutation. 34 (2012) 1 - p. 70-73 , 2012

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

11

Fanconi anemia gene mutations are not involved in sporadic ..:

Adank, Muriel A. ; Segers, Heidi ; van Mil, Saskia E....
Pediatric Blood & Cancer. 55 (2010) 4 - p. 742-744 , 2010

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

12

CHMP2B mutations are not a cause of dementia in Dutch patie..:

Rizzu, Patrizia ; van Mil, Saskia E. ; Anar, Burcu...
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. 141B (2006) 8 - p. 944-946 , 2006

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

13

Mutations inCol4a1Cause Perinatal Cerebral Hemorrhage and P..:

Gould, Douglas B. ; Phalan, F. Campbell ; Breedveld, Guido J....
Science. 308 (2005) 5725 - p. 1167-1171 , 2005

Link: https://doi.org/10.1126/..

14

Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and..:

Gould, Douglas B. ; Phalan, F. Campbell ; Breedveld, Guido J....
Science. 308 (2005) 5725 - p. 1167-1171 , 2005

Link: https://www.jstor.org/st..

15

Loss of FLCN-FNIP1/2 induces a non-canonical interferon res..:

Glykofridis, Iris E ; Knol, Jaco C ; Balk, Jesper A...
Glykofridis , I E , Knol , J C , Balk , J A , Westland , D , Pham , T V , Piersma , S R , Lougheed , S M , Derakhshan , S , Veen , P , Rooimans , M A , van Mil , S E , Böttger , F , Poddighe , P J , van de Beek , I , Drost , J , Zwartkruis , F J T , de Menezes , R X , Meijers-Heijboer , H E J , Houweling , A C , Jimenez , C R & Wolthuis , R M F 2021 , ' Loss of FLCN-FNIP1/2 induces a non-canonical interferon response in human renal tubular epithelial cells ' , eLife , vol. 10 , e61630 , pp. 1-71 . https://doi.org/10.7554/eLife.61630. , 2021

Link: https://research.vumc.nl..