nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A PMS2 non-canonical splicing site variant leads to aberrant splicing in a patient suspected for lynch syndrome
|
Bouras, Ahmed |
|
|
22 |
3 |
p. 303-306 |
artikel |
2 |
A retrospective cohort study of genetic referral and diagnosis of Lynch syndrome in patients with cutaneous sebaceous lesions
|
Kattapuram, Meera |
|
|
22 |
3 |
p. 295-301 |
artikel |
3 |
Characteristics of familial pancreatic cancer families with additional colorectal carcinoma
|
Lehman, Bettina |
|
|
22 |
3 |
p. 323-330 |
artikel |
4 |
Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition
|
Kumpula, Timo A. |
|
|
22 |
3 |
p. 291-294 |
artikel |
5 |
Hematologic toxicities of chemotherapy in breast and ovarian cancer patients carrying BRCA1/BRCA2 germline pathogenic variants. A single center experience and review of the literature
|
Hu-Heimgartner, Ketty |
|
|
22 |
3 |
p. 283-289 |
artikel |
6 |
Hereditary acute myeloid leukemia associated with C-terminal CEBPA germline variants
|
Harrigan, Amye M. |
|
|
22 |
3 |
p. 331-339 |
artikel |
7 |
Heritable methylation marks associated with prostate cancer risk
|
Dowty, James G. |
|
|
22 |
3 |
p. 313-317 |
artikel |
8 |
Ninth International Symposium on Hereditary Breast and Ovarian Cancer
|
|
|
|
22 |
3 |
p. 345-397 |
artikel |
9 |
Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161
|
Smith, Miriam J |
|
|
22 |
3 |
p. 341-344 |
artikel |
10 |
Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome
|
Obregón, Ixtaccihuatl H. |
|
|
22 |
3 |
p. 319-321 |
artikel |
11 |
Two unique BAP1 pathogenic variants identified in the same family by panel cascade testing
|
Byrne, Lindsey |
|
|
22 |
3 |
p. 307-311 |
artikel |