E-LIB Suche - Ergebnisse für: Rivera, Barbara

1

Prevalence and clinical implications of germline pathogenic..:

Carvalho, Nathalia de Angelis de ; Santiago, Karina Miranda ; Maia, Joyce Maria Lisboa...
Journal of Medical Genetics. 61 (2023) 1 - p. 61-68 , 2023

Link: https://doi.org/10.1136/..

2

SMARCA4-associated schwannomatosis:

Chan-Pak-Choon, Fiona ; Roca, Carla ; Chong, Anne-Sophie...
Acta Neuropathologica. 145 (2023) 4 - p. 505-507 , 2023

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

3

miRNA biogenesis and inherited disorders: clinico-molecular..:

Pelletier, Dylan ; Rivera, Barbara ; Fabian, Marc R..
Trends in Genetics. 39 (2023) 5 - p. 401-414 , 2023

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

4

Systematic proximal mapping of the classical RAD51 paralogs..:

Simo Cheyou, Estelle ; Boni, Jacopo ; Boulais, Jonathan...
PLOS Genetics. 18 (2022) 11 - p. e1010495 , 2022

Link: https://doi.org/10.1371/..

5

Molecular characterization of DICER1-mutated pituitary blas..:

Nadaf, Javad ; de Kock, Leanne ; Chong, Anne-Sophie...
Acta Neuropathologica. 141 (2021) 6 - p. 929-944 , 2021

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

6

Prevalence and Spectrum of DICER1 Mutations in Adult-onset ..:

Chong, Anne-Sophie ; Nikiforov, Yuri E ; Condello, Vincenzo...
The Journal of Clinical Endocrinology & Metabolism. 106 (2021) 4 - p. e968-e977 , 2021

Link: https://doi.org/10.1210/..

7

Current gene panels account for nearly all homologous recom..:

Matis, Thibaut S. ; Zayed, Nadia ; Labraki, Bouchra...
npj Breast Cancer. 7 (2021) 1 - p. , 2021

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

8

Investigating the causal role of MRE11A p.E506* in breast a..:

Elkholi, Islam E. ; Di Iorio, Massimo ; Fahiminiya, Somayyeh...
Scientific Reports. 11 (2021) 1 - p. , 2021

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

9

DGCR8 and the six hit, three-step model of schwannomatosis:

Nogué, Clara ; Chong, Anne-Sophie ; Grau, Elia...
Acta Neuropathologica. 143 (2021) 1 - p. 115-117 , 2021

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

10

Typical 22q11.2 deletion syndrome appears to confer a reduc..:

Evans, D. Gareth ; Messiaen, Ludwine M. ; Foulkes, William D....
Genetics in Medicine. 23 (2021) 9 - p. 1779-1782 , 2021

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

11

Prevalence and Spectrum of DICER1Mutations in Adult-Onset T..:

Chong, Anne-Sophie ; Nikiforov, Yuri E ; Condello, Vincenzo...
Journal of the Endocrine Society. 5 (2021) Supplement_1 - p. A868-A869 , 2021

Link: https://doi.org/10.1210/..

12

Ovarian and Breast Cancer Risks Associated With Pathogenic ..:

Yang, Xin ; Song, Honglin ; Leslie, Goska...
JNCI: Journal of the National Cancer Institute. 112 (2020) 12 - p. 1242-1250 , 2020

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

13

Pineoblastoma is uniquely tolerant of mutually exclusive lo..:

de Kock, Leanne ; Rivera, Barbara ; Foulkes, William D.
Acta Neuropathologica. 139 (2020) 6 - p. 1115-1118 , 2020

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

14

RARE-22. GERMLINE PATHOGENIC VARIANT c.1552G>A;p.E518K IN D..:

Chong, Anne-Sophie ; Nadaf, Javad ; Grau, Elia...
Neuro-Oncology. 22 (2020) Supplement_3 - p. iii447-iii447 , 2020

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

15

The genetic landscape of choroid plexus tumors in children ..:

Thomas, Christian ; Soschinski, Patrick ; Zwaig, Melissa...
Neuro-Oncology. 23 (2020) 4 - p. 650-660 , 2020

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