E-LIB Suche - Ergebnisse für: Martinez-Glez, Victor

1

Case report: Identification of a novel variant p.Gly215Arg ..:

Manso-Bazús, Carmen ; Spataro, Nino ; Gabau, Elisabeth...
Frontiers in Genetics. 15 (2024) - p. , 2024

2

Clinical practice guideline on the management of vestibular..:

Lassaletta, Luis ; Acle Cervera, Leticia ; Altuna, Xabier...
Acta Otorrinolaringologica (English Edition). 75 (2024) 2 - p. 108-128 , 2024

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

3

Undergrowth Of First Toe In PiK3CA-Related Overgrowth Spect..:

Triana, Paloma ; Sarmiento, María del Carmen ; Rodriguez-Laguna, Lara..
Annals of Vascular Surgery. 88 (2023) - p. 233-238 , 2023

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

4

Sirolimus Early Treatment in Vascular Anomalies Leads to a ..:

Triana, Paloma ; Díez-Sebastián, Jesús ; Rodriguez-Laguna, Lara..
Journal of Vascular Anomalies. 4 (2023) 1 - p. e065 , 2023

Link: https://doi.org/10.1097/..

5

High Performance of a Dominant/X-Linked Gene Panel in Patie..:

Spataro, Nino ; Trujillo-Quintero, Juan Pablo ; Manso, Carmen...
Genes. 14 (2023) 3 - p. 708 , 2023

Link: https://doi.org/10.3390/..

6

Schuurs–Hoeijmakers Syndrome (PACS1 Neurodevelopmental Diso..:

Tenorio-Castaño, Jair ; Morte, Beatriz ; Nevado, Julián...
Genes. 12 (2021) 5 - p. 738 , 2021

Link: https://doi.org/10.3390/..

7

Familial hypercholesterolemia: A single-nucleotide variant ..:

Rodríguez-Nóvoa, Sonia ; Rodríguez-Jiménez, Carmen ; Alonso, Concepción...
Atherosclerosis. 311 (2020) - p. 37-43 , 2020

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

8

A six-attribute classification of geneticmosaicism:

Martínez-Glez, Víctor ; Tenorio, Jair ; Nevado, Julián...
Genetics in Medicine. 22 (2020) 11 - p. 1743-1757 , 2020

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

9

Capillary malformation with segmental distribution and cent..:

Ivars, Marta ; Azaña, Jose Manuel ; Weibel, Lisa...
Journal of the American Academy of Dermatology. 83 (2020) 1 - p. 213-214 , 2020

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

10

Recessive mutations in muscle-specific isoforms of FXR1 cau..:

Estañ, María Cristina ; Fernández-Núñez, Elisa ; Zaki, Maha S....
Nature Communications. 10 (2019) 1 - p. , 2019

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

11

Biomarkers in Vestibular Schwannoma–Associated Hearing Loss:

Lassaletta, Luis ; Calvino, Miryam ; Morales-Puebla, Jose Manuel...
Frontiers in Neurology. 10 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

12

CLAPO syndrome: identification of somatic activating PIK3CA..:

Rodriguez-Laguna, Lara ; Ibañez, Kristina ; Gordo, Gema...
Genetics in Medicine. 20 (2018) 8 - p. 882-889 , 2018

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

13

In-frame Variants inFLNAProximal Rod 1 Domain Associate Wit..:

Fernández, Luis ; Tenorio, Jair ; Polo-Vaquero, Coral...
Revista Española de Cardiología (English Edition). 71 (2018) 7 - p. 545-552 , 2018

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

14

Somatic activating mutations in PIK3CA cause generalized ly..:

Rodriguez-Laguna, Lara ; Agra, Noelia ; Ibañez, Kristina...
Journal of Experimental Medicine. 216 (2018) 2 - p. 407-418 , 2018

Link: https://doi.org/10.1084/..

15

Hypoinsulinaemic, hypoketotic hypoglycaemia due to mosaic g..:

Leiter, Sarah M ; Parker, Victoria E R ; Welters, Alena...
European Journal of Endocrinology. 177 (2017) 2 - p. 175-186 , 2017

Link: https://doi.org/10.1530/..