Suchergebnisse - "Cortón, Marta"

PubPharm (5)

1

Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa

enthalten in: Molecular vision | 2022

von El-Asrag, M. | Corton, M. | McKibbin, M. | +7

2

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2019

von Van de Sompele, S. | Smith, C. | Karali, M. | +24

ErratumIn: Genet Med. 2019 Apr;21(4):1028. - PMID 30607024

3

Identification of PITX3 mutations in individuals with various ocular developmental defects

enthalten in: Ophthalmic genetics | 2018

von Zazo Seco, C. | Plaisancié, J. | Lupasco, T. | +9

4

Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

enthalten in: Human molecular genetics | 2015

von Avila-Fernandez, A. | Perez-Carro, R. | Corton, M. | +17

5

Association of the polycystic ovary syndrome with genomic variants related to insulin resistance, type 2 diabetes mellitus, and obesity

enthalten in: The Journal of clinical endocrinology and metabolism | 2004

von San Millán, J. | Cortón, M. | Villuendas, G. | +3

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