Suchergebnisse - "Apellániz-Ruiz, María"

PubPharm (69)

1

Characterization of the common genetic variation in the Spanish population of Navarre

enthalten in: bioRxiv.org | 2024

von Maillo, A. | Huergo, E. | Apellániz-Ruiz, M. | +18

2

Estrogen Receptor Expression in DICER1-related Lesions is Associated with the Presence of Cystic Components

enthalten in: The American journal of surgical pathology | 2024

von Thorner, P. | Chong, A. | Apellaniz-Ruiz, M. | +6

3

Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease

enthalten in: Neurology | 2024

von Sivera, R. | Pelayo-Negro, A. | Jericó, I. | +15

4

Teratoma-associated and so-called pure Wilms tumour of the ovary represent two separate tumour types with distinct molecular features

enthalten in: Histopathology | 2024

von Kommoss, F. | Chong, A. | Apellaniz-Ruiz, M. | +8

5

Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis

enthalten in: Familial cancer | 2023

von Apellaniz-Ruiz, M. | Sabbaghian, N. | Chong, A. | +8

6

Reclassification of two germline DICER1 splicing variants leads to DICER1 syndrome diagnosis

enthalten in: Familial cancer | 2023

von Apellaniz-Ruiz, M. | Sabbaghian, N. | Chong, A. | +8

7

Well-differentiated Sertoli-Leydig Cell Tumors (SLCTs) Are Not Associated With DICER1 Pathogenic Variants and Represent a Different Tumor Type to Moderately and Poorly Differentiated SLCTs

enthalten in: The American journal of surgical pathology | 2023

von McCluggage, W. | Rivera, B. | Chong, A. | +9

8

Likely foregut endoderm origin for a postzygotic mutation affecting the RNase IIIb domain of DICER1

enthalten in: Journal of medical genetics | 2022

von Chong, A. | Apellaniz-Ruiz, M. | de Kock, L. | +5

9

The Value of DICER1 Mutation Analysis in "Subtle" Diagnostically Challenging Embryonal Rhabdomyosarcomas of the Uterine Cervix

enthalten in: International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists | 2021

von Yoon, J. | Apellaniz-Ruiz, M. | Chong, A. | +6

10

DICER1-associated embryonal rhabdomyosarcoma and adenosarcoma of the gynecologic tract : Pathology, molecular genetics, and indications for molecular testing

enthalten in: Genes, chromosomes & cancer | 2021

von Apellaniz-Ruiz, M. | McCluggage, W. | Foulkes, W.

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