V.G. Peter

Type de document

Articles (8)

Co-auteur

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Mot-clé

mutation (6) Human beings (6) Families (6) Mutation (6) gène (5) Patients (5) Patients (5) ADN (4) Cases (4) Genes (4) Retinal (Visual pigment) (4) DNA (4) Cases (4) association (3) paysage (3) analyse (3) maladie (3) Social groups (3) Landscapes (3) Addition (3) Analysis (3) maladie (3) représentation de paysage (3) tissu (corporel) (2) protéine (2) cartographie (cartes) (2) famille (2) distribution (2) cancer (2) Deletion (2)

Documents écrit par V.G. Peter (8) | parle de V.G. Peter (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.
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)
Agenesis of the Corpus Callosum with Facial Dysmorphism and Intellectual Disability in Sibs Associated with Compound Heterozygous KDM5B Variants.
S. Lebon et al. (10 sept. 2021)
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
R. Sangermano et al. (29 juin 2021)
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.
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.
A.U. Rehman et al. (21 déc. 2019)
The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in thePISD gene.
V.G. Peter et al.