UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 91

Sortiert nach

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

Genetics in medicine, 2020-06, Vol.22 (6), p.1079-1087

2020

Link zum Volltext

Verfügbarkeit prüfen

Disparities in Inherited Retinal Degenerations

Seminars in ophthalmology, 2023-02, Vol.38 (2), p.201-206

2023

Link zum Volltext

Verfügbarkeit prüfen

Retinal Manifestations in Spinocerebellar Ataxia Type 3

Journal of neuro-ophthalmology, 2024-03, Vol.44 (1), p.e3

2024

Link zum Volltext

Verfügbarkeit prüfen

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

Genetics in medicine, 2015-04, Vol.17 (4), p.253-261

2015

Link zum Volltext

Verfügbarkeit prüfen

Generation of a human induced pluripotent stem cell line (OGIi001) from peripheral blood mononuclear cells of a healthy male donor

Stem cell research, 2024-02, Vol.74, p.103280-103280, Article 103280

2024

Link zum Volltext

Verfügbarkeit prüfen

The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)

Genetics in medicine, 2022-02, Vol.24 (2), p.332-343

2022

Link zum Volltext

Verfügbarkeit prüfen

A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families

Human molecular genetics, 2020-04, Vol.29 (6), p.967-979

2020

Link zum Volltext

Verfügbarkeit prüfen

Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration

Genetics in medicine, 2019-03, Vol.21 (3), p.694-704

2019

Link zum Volltext

Verfügbarkeit prüfen

Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa

Genes, 2021-11, Vol.12 (12), p.1853

2021

Link zum Volltext

Verfügbarkeit prüfen

Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome

Ophthalmic genetics, 2023-04, Vol.44 (2), p.198-203

2023

Link zum Volltext

Verfügbarkeit prüfen

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

Investigative ophthalmology & visual science, 2021-06, Vol.62 (7), p.27-27

2021

Link zum Volltext

Verfügbarkeit prüfen

Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa

PloS one, 2015-11, Vol.10 (11), p.e0142614

2015

Link zum Volltext

Verfügbarkeit prüfen

Systemic Diseases Associated with Retinal Dystrophies

Seminars in ophthalmology, 2014-09, Vol.29 (5-6), p.319-328

2014

Link zum Volltext

Verfügbarkeit prüfen

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

Human mutation, 2012-03, Vol.33 (3), p.457-466

2012

Link zum Volltext

Verfügbarkeit prüfen

P259: The impact of no-cost testing programs for inherited retinal degeneration on post-testing follow-up genetic services

Genetics in Medicine Open, 2023, Vol.1 (1), p.100287, Article 100287

2023

Link zum Volltext

Verfügbarkeit prüfen

Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network

PloS one, 2013-07, Vol.8 (7), p.e69282-e69282

2013

Link zum Volltext

Verfügbarkeit prüfen

Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy

Ophthalmic genetics, 2022-06, Vol.43 (3), p.332-339

2022

Link zum Volltext

Verfügbarkeit prüfen

Course of Ocular Function in PRPF31 Retinitis Pigmentosa

Seminars in ophthalmology, 2016-03, Vol.31 (1-2), p.49-52

2016

Link zum Volltext

Verfügbarkeit prüfen

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration

Cold Spring Harbor molecular case studies, 2022-12, Vol.8 (7), p.a006247

2022

Link zum Volltext

Verfügbarkeit prüfen

The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa

Genes, 2017-10, Vol.8 (10), p.256

2017

Link zum Volltext

Verfügbarkeit prüfen

Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker

JCI insight, 2023-08, Vol.8 (15)

2023

Link zum Volltext

Verfügbarkeit prüfen

Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy

American journal of ophthalmology case reports, 2019-09, Vol.15, p.100461-100461, Article 100461

2019

Link zum Volltext

Verfügbarkeit prüfen

Expanding the phenotypic spectrum in RDH12-associated retinal disease

Cold Spring Harbor molecular case studies, 2020-02, Vol.6 (1), p.a004754

2020

Link zum Volltext

Verfügbarkeit prüfen

A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes

Cold Spring Harbor molecular case studies, 2022-02, Vol.8 (2), p.mcs.a006131

2022

Link zum Volltext

Verfügbarkeit prüfen

P408: Perspectives of rare disease experts on sequencing newborns for treatable genetic conditions

Genetics in Medicine Open, 2023, Vol.1 (1), p.100444, Article 100444

2023

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 91

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(83)
Mit Volltextzugriff
(77)

Publikationsform

Sprache

Englisch
(91)
Japanisch
(12)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

Disparities in Inherited Retinal Degenerations

Retinal Manifestations in Spinocerebellar Ataxia Type 3

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

Generation of a human induced pluripotent stem cell line (OGIi001) from peripheral blood mononuclear cells of a healthy male donor

The importance of automation in genetic diagnosis: Lessons from analyzing an inherited retinal degeneration cohort with the Mendelian Analysis Toolkit (MATK)

A combined RNA-seq and whole genome sequencing approach for identification of non-coding pathogenic variants in single families

Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration

Beyond Sector Retinitis Pigmentosa: Expanding the Phenotype and Natural History of the Rhodopsin Gene Codon 106 Mutation (Gly-to-Arg) in Autosomal Dominant Retinitis Pigmentosa

Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome

Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome

Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa

Systemic Diseases Associated with Retinal Dystrophies

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database

P259: The impact of no-cost testing programs for inherited retinal degeneration on post-testing follow-up genetic services

Primary respiratory chain disease causes tissue-specific dysregulation of the global transcriptome and nutrient-sensing signaling network

Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy

Course of Ocular Function in PRPF31 Retinitis Pigmentosa

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod-cone degeneration

The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa

Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker

Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy

Expanding the phenotypic spectrum in RDH12-associated retinal disease

A hidden structural variation in a known IRD gene: a cautionary tale of two new disease candidate genes

P408: Perspectives of rare disease experts on sequencing newborns for treatable genetic conditions

Suchergebnisse filtern