E-LIB Suche - Ergebnisse für: Gordo, Gema

1

Author Correction: Genetic landscape of 6089 inherited reti..:

Perea-Romero, Irene ; Gordo, Gema ; Iancu, Ionut F....
Scientific Reports. 11 (2021) 1 - p. , 2021

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

2

Genetic landscape of 6089 inherited retinal dystrophies aff..:

Perea-Romero, Irene ; Gordo, Gema ; Iancu, Ionut F....
Scientific Reports. 11 (2021) 1 - p. , 2021

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

3

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, ..:

Georgiou, Michalis ; Robson, Anthony G. ; Fujinami, Kaoru...
American Journal of Ophthalmology. 225 (2021) - p. 95-107 , 2021

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

4

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/..

5

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/..

6

Constitutional mosaicism in RASA1‐related capillary malform..:

Gordo, Gema ; Rodriguez‐Laguna, Lara ; Agra, Noelia...
Clinical Genetics. 95 (2019) 4 - p. 516-519 , 2019

Link: https://doi.org/10.1111/..

7

Further delineation of neuropsychiatric findings in Tatton-..:

Tenorio, Jair ; Alarcón, Pablo ; Arias, Pedro...
European Journal of Human Genetics. 28 (2019) 4 - p. 469-479 , 2019

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

8

Prediction models for voriconazole pharmacokinetics based o..:

Dapía, Irene ; García, Irene ; Martinez, Jose Carlos...
International Journal of Antimicrobial Agents. 54 (2019) 4 - p. 463-470 , 2019

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

9

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/..

10

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/..

11

Clinical Implementation of Pharmacogenetic Testing in a Hos..:

Borobia, Alberto M. ; Dapia, Irene ; Tong, Hoi Y....
Clinical and Translational Science. 11 (2017) 2 - p. 189-199 , 2017

Link: https://doi.org/10.1111/..

12

Molecular and clinical analysis of ALPL in a cohort of pati..:

Tenorio, Jair ; Álvarez, Ignacio ; Riancho‐Zarrabeitia, Leyre...
American Journal of Medical Genetics Part A. 173 (2017) 3 - p. 601-610 , 2017

Link: https://doi.org/10.1002/..

13

Pitfalls of trio-based exome sequencing: imprinted genes an..:

Palomares-Bralo, María ; Vallespín, Elena ; del Pozo, Ángela...
Genetics in Medicine. 19 (2017) 11 - p. 1283-1285 , 2017

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

14

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/..

15

Clinical and molecular analyses of Beckwith–Wiedemann syndr..:

Tenorio, Jair ; Romanelli, Valeria ; Martin‐Trujillo, Alex...
American Journal of Medical Genetics Part A. 170 (2016) 10 - p. 2740-2749 , 2016

Link: https://doi.org/10.1002/..