E-LIB Suche - Ergebnisse für: Mena, Rocío

1

Inherited human ezrin deficiency impairs adaptive immunity:

García-Solís, Blanca ; Van Den Rym, Ana ; Martinez-Martínez, Laura...
Journal of Allergy and Clinical Immunology. 152 (2023) 4 - p. 997-1009.e11 , 2023

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

2

A Spanish Family with Gordon Syndrome Due to a Variant in t..:

Peces, Ramón ; Peces, Carlos ; Espinosa, Laura...
Genes. 14 (2023) 10 - p. 1878 , 2023

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

3

Whole-Exome Sequencing of 21 Families: Candidate Genes for ..:

Sánchez-Cazorla, Eloísa ; González-Atienza, Carmen ; López-Vázquez, Ana...
International Journal of Molecular Sciences. 24 (2023) 21 - p. 15676 , 2023

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

4

Whole-Exome Sequencing of 24 Spanish Families: Candidate Ge..:

González-Atienza, Carmen ; Sánchez-Cazorla, Eloísa ; Villoldo-Fernández, Natalia...
Genes. 14 (2023) 10 - p. 1838 , 2023

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

5

Whole Exome Sequencing of 20 Spanish Families: Candidate Ge..:

Rodríguez-Solana, Patricia ; Arruti, Natalia ; Nieves-Moreno, María...
International Journal of Molecular Sciences. 24 (2023) 14 - p. 11429 , 2023

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

6

Broadening the phenotypic spectrum ofEVEN‐PLUSsyndrome thro..:

Pacio‐Miguez, Marta ; Parrón‐Pajares, Manuel ; Gordon, Christopher T....
American Journal of Medical Genetics Part A. 188 (2022) 9 - p. 2819-2824 , 2022

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

7

Rapidly Progressing to ESRD in an Individual with Coexistin..:

Peces, Ramón ; Peces, Carlos ; Mena, Rocío...
Genes. 13 (2022) 3 - p. 394 , 2022

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

8

Birth of two healthy girls following preimplantation geneti..:

Peces, Ramón ; Mena, Rocío ; Peces, Carlos...
Clinical Kidney Journal. 14 (2021) 8 - p. 1987-1989 , 2021

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

9

Historical and geographical distribution of the founder mut..:

Peces, Ramón ; Mena, Rocío ; Peces, Carlos...
Clinical Kidney Journal. 14 (2021) 8 - p. 1990-1993 , 2021

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

10

Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic..:

Santos-Simarro, Fernando ; Pacio, Marta ; Cueto-González, Anna María...
European Journal of Medical Genetics. 64 (2021) 11 - p. 104338 , 2021

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

11

Co‐occurrence of neurofibromatosis type 1 and optic nerve g..:

Peces, Ramón ; Mena, Rocío ; Martín, Yolanda...
Molecular Genetics & Genomic Medicine. 8 (2020) 8 - p. , 2020

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

12

Coexistence of autosomal dominant polycystic kidney disease..:

Peces, Ramón ; Mena, Rocio ; Peces, Carlos...
Clinical Genetics. 97 (2020) 6 - p. 857-868 , 2020

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

13

Severe congenital nephrogenic diabetes insipidus in a compo..:

Peces, Ramón ; Mena, Rocío ; Peces, Carlos...
Molecular Genetics & Genomic Medicine. 7 (2019) 4 - p. , 2019

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

14

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/..

15

A new variant in PHKA2 is associated with glycogen storage ..:

Rodríguez-Jiménez, Carmen ; Santos-Simarro, Fernando ; Campos-Barros, Ángel...
Molecular Genetics and Metabolism Reports. 10 (2017) - p. 52-55 , 2017

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