E-LIB Suche - Ergebnisse für: Damián, Alejandra

1

Genetic background of congenital aniridia:

Damian, Alejandra ; Blanco‐Kelly, Fiona ; Tamayo, Alejandra...
Acta Ophthalmologica. 102 (2024) S279 - p. , 2024

2

Clinical and genetic analysis further delineates the phenot..:

Kesim, Yesim ; Ceroni, Fabiola ; Damián, Alejandra...
European Journal of Human Genetics. 31 (2023) 10 - p. 1175-1180 , 2023

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

3

Long-read genome sequencing identifies cryptic structural v..:

Damián, Alejandra ; Núñez-Moreno, Gonzalo ; Jubin, Claire...
Human Genomics. 17 (2023) 1 - p. , 2023

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

4

Minigene Splicing Assays and Long-Read Sequencing to Unrave..:

Tamayo, Alejandra ; Núñez-Moreno, Gonzalo ; Ruiz, Carolina...
International Journal of Molecular Sciences. 24 (2023) 2 - p. 1562 , 2023

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

5

Correction: Clinical and genetic analysis further delineate..:

Kesim, Yesim ; Ceroni, Fabiola ; Damián, Alejandra...
European Journal of Human Genetics. 31 (2023) 10 - p. 1196-1198 , 2023

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

6

An evaluation of pipelines for DNA variant detection can gu..:

Romero, Raquel ; de la Fuente, Lorena ; Del Pozo-Valero, Marta...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

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

7

New Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syn..:

Arteche‐López, Ana ; Avila‐Fernandez, Almudena ; Damian, Alejandra...
Clinical Genetics. 103 (2022) 2 - p. 236-241 , 2022

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

8

Fine Breakpoint Mapping by Genome Sequencing Reveals the Fi..:

Damián, Alejandra ; Ionescu, Raluca Oancea ; Rodríguez de Alba, Marta...
International Journal of Molecular Sciences. 22 (2021) 23 - p. 12713 , 2021

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

9

De novo small deletion affecting transcription start site o..:

Martinez‐Delgado, Beatriz ; Lopez‐Martin, Estrella ; Lara‐Herguedas, Julián...
American Journal of Medical Genetics Part A. 185 (2020) 3 - p. 877-883 , 2020

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

10

Mitotic Catastrophe Induced in HeLa Tumor Cells by Photodyn..:

Mascaraque, Marta ; Delgado-Wicke, Pablo ; Damian, Alejandra...
International Journal of Molecular Sciences. 20 (2019) 5 - p. 1229 , 2019

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

11

Individuals with heterozygous variants in the Wnt-signallin..:

Holt, Richard ; Goudie, David ; Verde, Alejandra Damián...
Ophthalmic Genetics. 43 (2022) 6 - p. 809-816 , 2022

Link: https://doi.org/10.1080/..

12

Minigene Splicing Assays and Long-Read Sequencing to Unrave..:

Tamayo, Alejandra ; Núñez-Moreno, Gonzalo ; Ruiz, Carolina...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9863980/. , 2023

Link: http://www.ncbi.nlm.nih...

13

Long-read genome sequencing identifies cryptic structural v..:

Damián, Alejandra ; Nunez-Moreno, Gonzalo ; Jubin, Claire...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s40246-023-00490-8. , 2023

Link: https://cea.hal.science/..

14

Long-read genome sequencing identifies cryptic structural v..:

Damián, Alejandra ; Nunez-Moreno, Gonzalo ; Jubin, Claire...
info:eu-repo/semantics/altIdentifier/doi/10.1186/s40246-023-00490-8. , 2023

Link: https://cea.hal.science/..

15

Correction: Clinical and genetic analysis further delineate..:

Kesim, Yesim ; Ceroni, Fabiola ; Damián, Alejandra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545745/. , 2023

Link: http://www.ncbi.nlm.nih...