about
Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humansBiallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophyBiallelic mutations in PLA2G5, encoding group V phospholipase A2, cause benign fleck retinaPanel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.Phenotypic variability in RDH5 retinopathy (Fundus Albipunctatus).An ontological foundation for ocular phenotypes and rare eye diseasesVariability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye DisordersClinical and genetic variability in children with partial albinismInherited Retinal Disorders: Using Evidence as a Driver for ImplementationClinical utility of genetic testing in 201 preschool children with inherited eye disordersUsing an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplarAn Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data
P50
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P50
description
investigador
@es
researcher
@en
wetenschapper
@nl
name
Panagiotis I Sergouniotis
@en
Panagiotis I Sergouniotis
@nl
type
label
Panagiotis I Sergouniotis
@en
Panagiotis I Sergouniotis
@nl
prefLabel
Panagiotis I Sergouniotis
@en
Panagiotis I Sergouniotis
@nl
P108
P31
P496
0000-0003-0986-4123