Suchergebnisse - "Ayuso, Carmen"

PubPharm (563)

1

Androgen receptor polyQ alleles and COVID-19 severity in men: a replication study

enthalten in: bioRxiv.org | 2024

von López-Rodríguez, R. | Ruiz-Hornillos, J. | Cortón, M. | +11

2

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

enthalten in: bioRxiv.org | 2024

von Martínez-Cayuelas, E. | Blanco-Kelly, F. | López-Grondona, F. | +49

3

Prioritization of new candidate genes for rare genetic diseases by a disease-aware evaluation of heterogeneous molecular networks

enthalten in: bioRxiv.org | 2024

von de la Fuente, L. | Del Pozo-Valero, M. | Perea-Romero, I. | +5

4

Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy : A Meta-Analysis

enthalten in: JAMA ophthalmology | 2024

von Cornelis, S. | IntHout, J. | Runhart, E. | +45

5

Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads

enthalten in: American journal of human genetics | 2024

von Quinodoz, M. | Kaminska, K. | Cancellieri, F. | +24

6

Clinical and Genetic Analysis of Patients With TK2 Deficiency

enthalten in: Neurology. Genetics | 2024

von Ceballos, F. | Serrano-Lorenzo, P. | Bermejo-Guerrero, L. | +17

7

Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

enthalten in: Biomolecules | 2024

von Hitti-Malin, R. | Panneman, D. | Corradi, Z. | +57

8

PRPH2-Related Retinal Dystrophies : Mutational Spectrum in 103 Families from a Spanish Cohort

enthalten in: International journal of molecular sciences | 2024

von Fernández-Caballero, L. | Martín-Merida, I. | Blanco-Kelly, F. | +21

9

Clonal chromosomal mosaicism and loss of chromosome Y in elderly men increase vulnerability for SARS-CoV-2

enthalten in: Communications biology | 2024

von Pérez-Jurado, L. | Cáceres, A. | Balagué-Dobón, L. | +108

10

Apolipoprotein E-ε2 and Resistance to Atherosclerosis in Midlife : The PESA Observational Study

enthalten in: Circulation research | 2024

von Toribio-Fernández, R. | Tristão-Pereira, C. | Carlos Silla-Castro, J. | +17

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