K. Cisarova

Discipline

Sociologie (1) Psychologie (1)

Type de document

Articles (12)

Co-auteur

Date

Source

Mot-clé

mutation (9) Mutation (9) Human beings (8) analyse (6) gène (6) Analysis (6) protéine (5) Genes (5) Patients (5) Landscapes (5) Patients (5) association (4) paysage (4) ADN (4) maladie (4) Identification (4) Social groups (4) Identification (4) DNA (4) Disabilities (4) Identification (4) maladie (4) représentation de paysage (4) gestion (3) Cases (3) Phenotype (3) Retinal (Visual pigment) (3) Nature (3) Melanoma (3) Management (3)

Documents écrit par K. Cisarova (12) | parle de K. Cisarova (0)

The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
V.G. Peter et al.
Identification of New Vulnerabilities in Conjunctival Melanoma Using Image-Based High Content Drug Screening.
K. Nardou et al. (19 mars 2022)
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity.
M. Quinodoz et al. (3 mars 2022)
De novo variants in CACNA1E found in patients with intellectual disability, developmental regression and social cognition deficit but no seizures.
B. Royer-Bertrand et al. (26 oct. 2021)
CNOT2 haploinsufficiency in a 40-year-old man with intellectual disability, autism, and seizures.
B. Royer-Bertrand et al.
A live single-cell reporter assay links intratumor heterogeneity to metastatic proclivity in Ewing sarcoma.
T. Keskin et al.
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data.
M. Quinodoz et al. (22 janv. 2021)
Genomic and transcriptomic landscape of conjunctival melanoma.
K. Cisarova et al.
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.
K. Nikopoulos et al. (28 juin 2019)
DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.
M. Quinodoz et al. (5 oct. 2017)
Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing.
B. Royer-Bertrand et al. (3 nov. 2016)
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.
K. Nikopoulos et al. (1 sept. 2016)