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Vallespin, Elena
138  results:
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1

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/..
 
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2

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/..
 
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3

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/..
 
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4

OPA1 Dominant Optic Atrophy: Diagnostic Approach in the Ped..:

Arruti, Natalia ; Rodríguez-Solana, Patricia ; Nieves-Moreno, María...
Current Issues in Molecular Biology.  45 (2023)  1 - p. 465-478 , 2023
Link: https://doi.org/10.3390/..
 
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5

Posterior Polymorphous Corneal Dystrophy in a Patient with ..:

Fernández-Gutiérrez, Eva ; Fernández-Pérez, Pedro ; Boto-De-Los-Bueis, Ana...
International Journal of Molecular Sciences.  24 (2022)  1 - p. 209 , 2022
Link: https://doi.org/10.3390/..
 
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6

Variability in Phelan-McDermid Syndrome in a Cohort of 210 ..:

Nevado, Julián ; García-Miñaúr, Sixto ; Palomares-Bralo, María...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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7

Next-Generation Sequencing Screening of 43 Families with No..:

González-Iglesias, Eva ; López-Vázquez, Ana ; Noval, Susana...
International Journal of Molecular Sciences.  23 (2022)  8 - p. 4233 , 2022
Link: https://doi.org/10.3390/..
 
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8

Molecular and Genetic Mechanism of Non-Syndromic Congenital..:

Fernández-Alcalde, Celia ; Nieves-Moreno, María ; Noval, Susana...
Genes.  12 (2021)  4 - p. 580 , 2021
Link: https://doi.org/10.3390/..
 
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9

Expanding the Phenotypic Spectrum of PAX6 Mutations: From C..:

Nieves-Moreno, Maria ; Noval, Susana ; Peralta, Jesus...
Genes.  12 (2021)  5 - p. 707 , 2021
Link: https://doi.org/10.3390/..
 
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10

Next-generation Sequencing in Bone Marrow Failure Syndromes..:

Gálvez, Eva ; Vallespín, Elena ; Arias-Salgado, Elena G....
HemaSphere.  5 (2021)  4 - p. e539 , 2021
Link: https://doi.org/10.1097/..
 
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11

Molecular and histologic insights on early onset cardiomyop..:

Fernández, Luis ; Casamayor Polo, Laura ; Bravo García‐Morato, María...
Clinical Genetics.  99 (2020)  3 - p. 481-483 , 2020
Link: https://doi.org/10.1111/..
 
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12

Clinical and Molecular Description of 16 Families With Hete..:

Sentchordi-Montané, Lucía ; Benito-Sanz, Sara ; Aza-Carmona, Miriam...
The Journal of Clinical Endocrinology & Metabolism.  105 (2020)  8 - p. 2654-2666 , 2020
Link: https://doi.org/10.1210/..
 
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13

Loss of function BMP4 mutation supports the implication of ..:

Rodríguez‐Contreras, Francisco J. ; Marbán‐Calzón, Mercedes ; Vallespín, Elena...
American Journal of Medical Genetics Part A.  179 (2019)  8 - p. 1591-1597 , 2019
Link: https://doi.org/10.1002/..
 
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14

Genetic analyses of aplastic anemia and idiopathic pulmonar..:

Arias-Salgado, Elena G. ; Galvez, Eva ; Planas-Cerezales, Lurdes...
Orphanet Journal of Rare Diseases.  14 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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15

Heterozygous aggrecan variants are associated with short st..:

Sentchordi‐Montané, Lucía ; Aza‐Carmona, Miriam ; Benito‐Sanz, Sara...
Clinical Endocrinology.  88 (2018)  6 - p. 820-829 , 2018
Link: https://doi.org/10.1111/..
 
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