Detalhe da pesquisa
1.
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Int J Cancer
; 144(10): 2453-2464, 2019 05 15.
Artigo
Inglês
| MEDLINE | ID: mdl-30414346
2.
A new gene associated with a ß-thalassemia phenotype: the observation of variants in SUPT5H.
Blood
; 136(15): 1789-1793, 2020 10 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32589702
3.
The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients.
BMC Med Genet
; 10: 34, 2009 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-19368708
4.
Chromosomal changes in sporadic and familial head and neck paragangliomas.
Otolaryngol Head Neck Surg
; 140(5): 724-9, 2009 May.
Artigo
Inglês
| MEDLINE | ID: mdl-19393419
5.
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands.
Eur J Hum Genet
; 23(1): 29-33, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24736738
6.
Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.
Cell Oncol
; 32(4): 275-83, 2010 Jan 01.
Artigo
Inglês
| MEDLINE | ID: mdl-20208144
7.
Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.
Endocr Relat Cancer
; 16(3): 929-37, 2009 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-19546167