E-LIB Suche - Ergebnisse für: Gille, Johan J. P.

1

Microglial phagolysosome dysfunction and altered neural com..:

Correa-da-Silva, Felipe ; Carter, Jenny ; Wang, Xin-Yuan...
Acta Neuropathologica. 147 (2024) 1 - p. , 2024

2

Familial multiple discoid fibromas is linked to a locus on ..:

van de Beek, Irma ; Glykofridis, Iris E. ; Tanck, Michael W. T....
Journal of Human Genetics. 68 (2023) 4 - p. 273-279 , 2023

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

3

Prevalence of medulloblastoma in basal cell nevus syndrome ..:

Verkouteren, Babette J A ; Cosgun, Betül ; Vermeulen, R Jeroen...
Neuro-Oncology. 23 (2021) 6 - p. 1035-1036 , 2021

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

4

Lack of genotype-phenotype correlation in basal cell nevus ..:

Cosgun, Betül ; Reinders, Marie G.H.C. ; van Geel, Michel...
Journal of the American Academy of Dermatology. 83 (2020) 2 - p. 604-607 , 2020

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

5

Newborn blood spot screening for cystic fibrosis with a fou..:

Dankert-Roelse, Jeannette E. ; Bouva, Marelle J. ; Jakobs, Bernadette S....
Journal of Cystic Fibrosis. 18 (2019) 1 - p. 54-63 , 2019

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

6

Direct-to-consumer carrier screening for cystic fibrosis vi..:

Holtkamp, Kim C. A. ; Henneman, Lidewij ; Gille, Johan J. P....
Journal of Community Genetics. 10 (2018) 2 - p. 249-257 , 2018

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

7

A strategy for molecular diagnostics of Fanconi anemia in B..:

Pilonetto, Daniela V. ; Pereira, Noemi F. ; Bonfim, Carmem M. S....
Molecular Genetics & Genomic Medicine. 5 (2017) 4 - p. 360-372 , 2017

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

8

Are lung cysts in renal cell cancer (RCC) patients an indic..:

Johannesma, Paul C. ; Houweling, Arjan C. ; Menko, Fred H....
Familial Cancer. 15 (2015) 2 - p. 297-300 , 2015

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

9

Multifocal and microscopic chromophobe renal cell carcinoma..:

Sugimoto, Kotaro ; Takasawa, Akira ; Ichimiya, Shingo...
Pathology International. 63 (2013) 10 - p. 510-515 , 2013

Link: https://doi.org/10.1111/..

10

Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Gene..:

Ameziane, Najim ; Sie, Daoud ; Dentro, Stefan...
Anemia. 2012 (2012) - p. 1-7 , 2012

Link: https://doi.org/10.1155/..

11

Heterozygote FANCD2 mutations associated with childhood T C..:

Smetsers, Stephanie ; Muter, Joanne ; Bristow, Claire...
Familial Cancer. 11 (2012) 4 - p. 661-665 , 2012

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

12

Familial multiple discoid fibromas: A look-alike of Birt-Ho..:

Starink, Theo M. ; Houweling, Arjan C. ; van Doorn, Martijn B.A....
Journal of the American Academy of Dermatology. 66 (2012) 2 - p. 259.e1-259.e9 , 2012

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

13

Improving test properties for neonatal cystic fibrosis scre..:

Cornel, Martina C. ; Gille, Johan J. P. ; Loeber, J. Gerard...
Journal of Inherited Metabolic Disease. 35 (2012) 4 - p. 635-640 , 2012

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

14

Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex..:

Gille, Johan J. P. ; Floor, Karijn ; Kerkhoven, Lianne...
Anemia. 2012 (2012) - p. 1-13 , 2012

Link: https://doi.org/10.1155/..

15

A de novo FLCN mutation in a patient with spontaneous pneum..:

Menko, Fred H. ; Johannesma, Paul C. ; van Moorselaar, R. Jeroen A....
Familial Cancer. 12 (2012) 3 - p. 373-379 , 2012

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