E-LIB Suche - Ergebnisse für: Izquierdo Álvarez, Silvia

1

Diversity of oncopharmacogenetic profile within Spanish pop..:

Ferrer Bolufer, Irene ; Galiana Vallés, Ximo ; Izquierdo Álvarez, Silvia...
Pharmacogenetics and Genomics. 34 (2024) 5 - p. 166-169 , 2024

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

2

Hereditary haemochromatosis: Prevalence and characterizatio..:

Abadía Molina, Claudia ; Goñi Ros, Nuria ; González Tarancón, Ricardo...
Medicina Clínica. , 2024

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

3

A novel pathogenic splice-site variant in the PTCH1 gene c...:

Conde-Rubio, Paula ; García-Malinis, Ana Julia ; Salvador-Rupérez, Elvira..
Egyptian Journal of Medical Human Genetics. 24 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

4

A novel mutation in the SOX5 gene c.1627del; p.(Tyr543Ilefs..:

Cuenca Alcocel, Jose ; Criado Álamo, Elena ; Salvador-Rupérez, Elvira...
Egyptian Journal of Medical Human Genetics. 24 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

5

Tamaño de repeticiones CTG no aumentado en la transmisión d..:

Goñi Ros, Nuria ; Sienes Bailo, Paula ; González Tarancón, Ricardo..
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 4 (2023) 2 - p. 190-194 , 2023

Link: https://doi.org/10.1515/..

6

AZF gene microdeletions in azoospermic–oligozoospermic male:

Lahoz Alonso, Raquel ; Sienes Bailo, Paula ; César Márquez, María Ángeles...
Medicina Clínica (English Edition). 160 (2023) 4 - p. 151-155 , 2023

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

7

No increase in the CTG repeat size during transmission from..:

Goñi Ros, Nuria ; Sienes Bailo, Paula ; González Tarancón, Ricardo..
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 4 (2023) 2 - p. 185-189 , 2023

Link: https://doi.org/10.1515/..

8

Description of a patient with developmental delay and dysmo..:

Molina Herranz, David ; Moreno Sánchez, Amelia ; Carmen Marcén, Gema...
Egyptian Journal of Medical Human Genetics. 24 (2023) 1 - p. , 2023

Link: https://doi.org/10.1186/..

9

Three novel variants in SOX10 gene: Waardenburg and PCWH sy..:

Sienes Bailo, Paula ; Goñi-Ros, Nuria ; Gazulla, José...
Egyptian Journal of Medical Human Genetics. 23 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

10

Estudio de la cristaluria: efectividad de la incorporación ..:

Sienes Bailo, Paula ; Santamaría González, María ; Izquierdo Álvarez, Silvia...
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 2 (2021) 1 - p. 115-120 , 2021

Link: https://doi.org/10.1515/..

11

A novel variant in the COL4A3 gene: etiology of Alport synd..:

Sienes Bailo, Paula ; Bancalero Flores, José Luis ; Lahoz Alonso, Raquel...
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 2 (2021) 3 - p. 451-456 , 2021

Link: https://doi.org/10.1515/..

12

Management of postanalytical processes in the clinical labo..:

López Yeste, Mᵃ Liboria ; Izquierdo Álvarez, Silvia ; Pons Mas, Antonia R....
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 2 (2021) 1 - p. 51-59 , 2021

Link: https://doi.org/10.1515/..

13

Nueva variante en el gen COL4A3: etiología de un síndrome d..:

Sienes Bailo, Paula ; Bancalero Flores, José Luis ; Lahoz Alonso, Raquel...
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 2 (2021) 3 - p. 457-462 , 2021

Link: https://doi.org/10.1515/..

14

Gestión del proceso posanalítico en los laboratorios clínic..:

López Yeste, Mª Liboria ; Pons Mas, Antonia R. ; Guiñón Muñoz, Leonor...
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 2 (2021) 3 - p. 381-389 , 2021

Link: https://doi.org/10.1515/..

15

A study of crystalluria: effectiveness of including hygieni..:

Sienes Bailo, Paula ; Santamaría González, María ; Izquierdo Álvarez, Silvia...
Advances in Laboratory Medicine / Avances en Medicina de Laboratorio. 2 (2021) 1 - p. 109-114 , 2021

Link: https://doi.org/10.1515/..