Suchergebnisse - "Blanco-Kelly, Fiona"

PubPharm (94)

1

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

2

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

3

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

4

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

5

Genetic background of congenital aniridia

enthalten in: Acta Ophthalmologica | 2024

von Damian, A. | Blanco‐Kelly, F. | Tamayo, A. | +7

6

Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

enthalten in: European journal of human genetics : EJHG | 2023

von Kesim, Y. | Ceroni, F. | Damián, A. | +12

ErratumIn: Eur J Hum Genet. 2023 Apr 28;:. - PMID 37106145

7

Correction : Clinical and genetic analysis further delineates the phenotypic spectrum of ALDH1A3-related anophthalmia and microphthalmia

enthalten in: European journal of human genetics : EJHG | 2023

von Kesim, Y. | Ceroni, F. | Damián, A. | +12

ErratumFor: Eur J Hum Genet. 2023 Oct;31(10):1175-1180. - PMID 36997679

8

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies

enthalten in: American journal of ophthalmology | 2023

von Rodilla, C. | Martín-Merida, I. | Blanco-Kelly, F. | +19

9

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

enthalten in: Journal of medical genetics | 2023

von Martinez-Cayuelas, E. | Blanco-Kelly, F. | Lopez-Grondona, F. | +49

10

Biallelic intragenic tandem duplication of CPLANE1 in Joubert syndrome : A case report

enthalten in: Clinical genetics | 2023

von Martínez-Granero, F. | Martínez-Cayuelas, E. | Rodilla, C. | +9

1
2
3
4
5
6
7
8
9
10
Nächster »
[10]