Suchergebnisse - "Cortón, Marta"

PubPharm (141)

11

TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

enthalten in: JCI insight | 2023

von Bocquet, B. | Borday, C. | Erkilic, N. | +27

12

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

13

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

14

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

15

Congenital aniridia patients' experience on their visual impairment in Hungary.

enthalten in: Orvosi hetilap | 2023

von Csidey, M. | Grupcheva, C. | Stachon, T. | +16

16

Staging of aniridia-associated keratopathy

enthalten in: Orvosi hetilap | 2023

von Náray, A. | Fries, F. | Csidey, M. | +13

17

Correction : VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing

enthalten in: Human genetics | 2023

von Núñez-Moreno, G. | Tamayo, A. | Ruiz-Sánchez, C. | +2

ErratumFor: Hum Genet. 2023 Apr;142(4):495-506. - PMID 36881176

18

Correction: VIsoQLR: an interactive tool for the detection, quantification and fine-tuning of isoforms in selected genes using long-read sequencing

enthalten in: Human genetics | 2023

von Núñez-Moreno, G. | Tamayo, A. | Ruiz-Sánchez, C. | +2

19

Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases

enthalten in: Human genomics | 2023

von Damián, A. | Núñez-Moreno, G. | Jubin, C. | +10

20

Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases

enthalten in: Human genomics | 2023

von Damián, A. | Núñez-Moreno, G. | Jubin, C. | +10