E-LIB Suche - Ergebnisse für: María-Isabel Tejada

1

Hereditary Spastic Paraplegia and Intellectual Disability: ..:

Aguilera-Albesa, Sergio ; de la Hoz, Ana Belén ; Ibarluzea, Nekane...
Frontiers in Neurology. 11 (2020) - p. , 2020

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

2

Role of mitochondrial DNA variants in the development of fr..:

Alvarez-Mora, Maria Isabel ; Santos, Cristina ; Carreño-Gago, Lidia...
Mitochondrion. 52 (2020) - p. 157-162 , 2020

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

3

Effect of AGG Interruptions on FMR1 Maternal Transmissions:

Villate, Olatz ; Ibarluzea, Nekane ; Maortua, Hiart...
Frontiers in Molecular Biosciences. 7 (2020) - p. , 2020

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

4

Non‐syndromic X linked intellectual disability: Current kno..:

Tejada, María Isabel ; Ibarluzea, Nekane
Clinical Genetics. 97 (2020) 5 - p. 677-687 , 2020

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

5

Molecular and Clinical Characterization of a Novel Nonsense..:

Tejada, María Isabel ; Villate, Olatz ; Ibarluzea, Nekane...
Frontiers in Genetics. 10 (2019) - p. , 2019

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

6

Infectious and Immunologic Phenotype of MECP2 Duplication S..:

Bauer, Michael ; Kölsch, Uwe ; Krüger, Renate...
Journal of Clinical Immunology. 35 (2015) 2 - p. 168-181 , 2015

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

7

Use of model systems to understand the etiology of fragile ..:

Sherman, Stephanie L ; Curnow, Eliza C ; Easley, Charles A...
Journal of Neurodevelopmental Disorders. 6 (2014) 1 - p. , 2014

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

8

Breast and ovarian cancer risk evaluation in families with ..:

Beristain, Elena ; Ibáñez, Berta ; Vergara, Itziar...
Journal of Community Genetics. 1 (2010) 2 - p. 91-99 , 2010

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

9

A study on MSH2 and MLH1 mutations in hereditary nonpolypos..:

Martínez-Bouzas, Cristina ; Beristain, Elena ; Ojembarrena, Enrique...
Familial Cancer. 8 (2009) 4 - p. 533-539 , 2009

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

10

Screening for Female Fragile X Premutation and Full Mutatio..:

Tejada, Maria Isabel ; Duran, Mercedes
Community Genetics. 2 (1999) 1 - p. 49-50 , 1999

Link: https://www.jstor.org/st..

11

RNA Analysis and Clinical Characterization of a Novel Splic..:

Villate, Olatz ; Maortua, Hiart ; Tejada, María-Isabel.
Frontiers in Pediatrics. 10 (2022) - p. , 2022

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

12

RNA Analysis and Clinical Characterization of a Novel Splic..:

Olatz Villate ; Hiart Maortua ; María-Isabel Tejada.
https://www.frontiersin.org/articles/10.3389/fped.2022.827802/full. , 2022

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

13

Targeted Next-Generation Sequencing in Patients with Sugges..:

Ibarluzea, Nekane ; de la Hoz, Ana Belén ; Villate, Olatz...
Genes. 11 (2020) 1 - p. 51 , 2020

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

14

Targeted Next-Generation Sequencing in Patients with Sugges..:

Nekane Ibarluzea ; Ana Belén de la Hoz ; Olatz Villate...
https://www.mdpi.com/2073-4425/11/1/51. , 2020

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

15

Targeted Next-Generation Sequencing in Patients with Sugges..:

Nekane Ibarluzea ; Ana Belén de la Hoz ; Olatz Villate...
Molecular Genetics and Genomics. , 2020

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