E-LIB Suche - Ergebnisse für: Pérez de Nanclares, Guiomar

1

Choosing the Best Tissue and Technique to Detect Mosaicism ..:

Vado, Yerai ; Manero-Azua, Africa ; Pereda, Arrate.
Genes. 15 (2024) 1 - p. 120 , 2024

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

2

A Protein Misfolding Shaking Amplification-based method for..:

Eraña, Hasier ; Sampedro-Torres-Quevedo, Cristina ; Charco, Jorge M....
Nature Communications. 15 (2024) 1 - p. , 2024

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

3

New pathogenic variant in DLX5: New clues for a clinical sp..:

Sifre-Ruiz, Anna ; Sagasta, Amaia ; Santos, Erika..
Frontiers in Genetics. 14 (2023) - p. , 2023

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

4

Analysis of a large case series of fatal familial insomnia ..:

Kortazar-Zubizarreta, Izaro ; Eraña, Hasier ; Pereda, Arrate...
Journal of Neuropathology & Experimental Neurology. 82 (2023) 2 - p. 169-179 , 2023

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

5

Nutrition recommendations for patients with pseudohypoparat..:

Miñones-Suarez, Lorena ; Pérez de Nanclares, Guiomar ; Marín-del Barrio, Silvia...
Anales de Pediatría (English Edition). 99 (2023) 2 - p. 129-135 , 2023

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

6

C9ORF72 Gene GGGGCC Hexanucleotide Expansion: A High Clinic..:

Kortazar-Zubizarreta, Izaro ; Manero-Azua, Africa ; Afonso-Agüera, Juan.
Journal of Personalized Medicine. 13 (2023) 9 - p. 1396 , 2023

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

7

Frequency of de novo variants and parental mosaicism in fam..:

Vado, Yerai ; Pereda, Arrate ; Manero-Azua, Africa..
Frontiers in Endocrinology. 13 (2023) - p. , 2023

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

8

Recomendaciones nutricionales para pacientes con seudohipop..:

Miñones-Suarez, Lorena ; Pérez de Nanclares, Guiomar ; Marín-del Barrio, Silvia...
Anales de Pediatría. 99 (2023) 2 - p. 129-135 , 2023

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

9

Vitamin D deficiency in adulthood: Presentation of 2 famili..:

Manero-Azua, África ; Pereda, Arrate ; González Cabrera, Natalia...
Medicina Clínica (English Edition). 161 (2023) 11 - p. 493-497 , 2023

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

10

Albright's hereditary osteodystrophy: an entity to recogniz:

Maduro, Ana Isabel ; Pinto Saraiva, André ; Pimenta Rodrigues, Orlando...
Rheumatology. 61 (2022) 11 - p. e356-e357 , 2022

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

11

Description of the first Spanish case of Gerstmann–Sträussl..:

Eraña, Hasier ; San Millán, Beatriz ; Díaz-Domínguez, Carlos M....
Journal of Neurology. 269 (2022) 8 - p. 4253-4263 , 2022

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

12

Blood β-Synuclein and Neurofilament Light Chain During the ..:

Halbgebauer, Steffen ; Abu-Rumeileh, Samir ; Oeckl, Patrick...
Neurology. 98 (2022) 14 - p. , 2022

Link: https://doi.org/10.1212/..

13

Congenital cutaneous ossification:

Gomes, Tiago Fernandes ; Kieselová, Katarina ; Santiago, Felicidade...
Journal of Paediatrics and Child Health. 58 (2021) 7 - p. 1262-1264 , 2021

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

14

Sporadic Creutzfeldt–Jakob disease with extremely long 14‐y..:

Kortazar‐Zubizarreta, Izaro ; Ruiz‐Onandi, Rebeca ; Pereda, Arrate...
European Journal of Neurology. 28 (2021) 9 - p. 2901-2906 , 2021

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

15

Design and Validation of a Process Based on Cationic Niosom..:

Vado, Yerai ; Puras, Gustavo ; Rosique, Melania...
Pharmaceutics. 13 (2021) 5 - p. 696 , 2021

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