UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 409

Sortiert nach

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

Progress in retinal and eye research, 2021-05, Vol.82, p.100898-100898, Article 100898

2021

Link zum Volltext

Verfügbarkeit prüfen

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Genome medicine, 2018-12, Vol.10 (1), p.95-95, Article 95

2018

Link zum Volltext

Verfügbarkeit prüfen

Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy

Scientific reports, 2019-03, Vol.9 (1), p.3793-3793, Article 3793

2019

Link zum Volltext

Verfügbarkeit prüfen

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

Molecular therapy. Nucleic acids, 2020-09, Vol.21, p.412-427

2020

Link zum Volltext

Verfügbarkeit prüfen

Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

Molecular therapy. Nucleic acids, 2023-03, Vol.31, p.674-688

2023

Link zum Volltext

Verfügbarkeit prüfen

Visual Acuity by Decade in 139 Males with RPGR-Associated Retinitis Pigmentosa

Ophthalmology science (Online), 2024-03, Vol.4 (2), p.100375-100375, Article 100375

2024

Link zum Volltext

Verfügbarkeit prüfen

Retinal detachment in retinitis pigmentosa

BMJ open ophthalmology, 2020-07, Vol.5 (1), p.e000454-e000454

2020

Link zum Volltext

Verfügbarkeit prüfen

SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease

Ophthalmology science (Online), 2023-06, Vol.3 (2), p.100258-100258, Article 100258

2023

Link zum Volltext

Verfügbarkeit prüfen

Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study

JMIR formative research, 2022-01, Vol.6 (1), p.e21341-e21341

2022

Link zum Volltext

Verfügbarkeit prüfen

Longitudinal Study to Assess the Quantitative Use of Fundus Autofluorescence for Monitoring Disease Progression in Choroideremia

Journal of clinical medicine, 2021-01, Vol.10 (2), p.232

2021

Link zum Volltext

Verfügbarkeit prüfen

Transcorneal electrical stimulation for the treatment of retinitis pigmentosa: results from the TESOLAUK trial

BMJ open ophthalmology, 2017-12, Vol.2 (1), p.e000096-e000096

2017

Link zum Volltext

Verfügbarkeit prüfen

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

Npj genomic medicine, 2021-06, Vol.6 (1), p.53-53, Article 53

2021

Link zum Volltext

Verfügbarkeit prüfen

Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care

Ophthalmology (Rochester, Minn.), 2023-11, Vol.130 (11), p.1182-1190

2023

Link zum Volltext

Verfügbarkeit prüfen

Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials

Ophthalmology (Rochester, Minn.), 2021-05, Vol.128 (5), p.706-718

2021

Link zum Volltext

Verfügbarkeit prüfen

Isolated rod dysfunction associated with a novel genotype of CNGB1

American journal of ophthalmology case reports, 2019-06, Vol.14, p.83-86

2019

Link zum Volltext

Verfügbarkeit prüfen

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease

Human molecular genetics, 2020-07, Vol.29 (11), p.1882-1899

2020

Link zum Volltext

Verfügbarkeit prüfen

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings

Ophthalmology (Rochester, Minn.), 2024-01

2024

Link zum Volltext

Verfügbarkeit prüfen

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1 , Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

Investigative ophthalmology & visual science, 2022-08, Vol.63 (9), p.14-14

2022

Link zum Volltext

Verfügbarkeit prüfen

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

Ophthalmology (Rochester, Minn.), 2018-06, Vol.125 (6), p.894-903

2018

Link zum Volltext

Verfügbarkeit prüfen

Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy

American journal of ophthalmology, 2024-07, Vol.263, p.1-10

2024

Link zum Volltext

Verfügbarkeit prüfen

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes

Progress in retinal and eye research, 2024-05, Vol.100, p.101244-101244, Article 101244

2024

Link zum Volltext

Verfügbarkeit prüfen

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

Investigative ophthalmology & visual science, 2022-06, Vol.63 (6), p.15-15

2022

Link zum Volltext

Verfügbarkeit prüfen

Retinal Structure and Function in Achromatopsia

Ophthalmology (Rochester, Minn.), 2014, Vol.121 (1), p.234-245

2014

Link zum Volltext

Verfügbarkeit prüfen

Genotype-Dependent Variability in Residual Cone Structure in Achromatopsia: Toward Developing Metrics for Assessing Cone Health

Investigative ophthalmology & visual science, , Vol.55 (11), p.7303

Link zum Volltext

Verfügbarkeit prüfen

SLC38A8 mutation spectrum in foveal hypoplasia

Acta ophthalmologica (Oxford, England), 2022-01, Vol.100 (S267), p.n/a

2022

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 409

Suche als RSS-Feed

Aktive Filter

ThemaHumans

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(349)
Mit Volltextzugriff
(372)

Publikationsform

2 weitere anzeigen...

Weniger anzeigen...

Sprache

Englisch
(407)
Japanisch
(58)
Deutsch
(1)
Croatian
(1)

Erscheinungsjahr

n.n

Thema

Science & Technology
(212)
Life Sciences & Biomedicine
(148)
Physical Sciences
(54)
Microbiology
(38)
Ophthalmology
(36)
Biological And Medical Sciences
(32)
Chemistry
(29)
Ecology
(28)
Animals
(26)
Technology
(26)
Genetics
(23)
Exact Sciences And Technology
(22)
Science & Technology - Other Topics
(22)
Bacteria
(21)
Environmental Sciences & Ecology
(21)
Fundamental And Applied Biological Sciences. Psychology
(20)
Geologic Sediments - Microbiology
(19)
Phylogeny
(19)
Multidisciplinary Sciences
(18)
Retina
(18)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(5)

Menü

Weitere Dienste

Einstellungen

The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapies

Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing

Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

Visual Acuity by Decade in 139 Males with RPGR-Associated Retinitis Pigmentosa

Retinal detachment in retinitis pigmentosa

SynthEye: Investigating the Impact of Synthetic Data on Artificial Intelligence-assisted Gene Diagnosis of Inherited Retinal Disease

Collaborative Research and Development of a Novel, Patient-Centered Digital Platform (MyEyeSite) for Rare Inherited Retinal Disease Data: Acceptability and Feasibility Study

Longitudinal Study to Assess the Quantitative Use of Fundus Autofluorescence for Monitoring Disease Progression in Choroideremia

Transcorneal electrical stimulation for the treatment of retinitis pigmentosa: results from the TESOLAUK trial

Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

Prognostication in Stargardt Disease Using Fundus Autofluorescence: Improving Patient Care

Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials

Isolated rod dysfunction associated with a novel genotype of CNGB1

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings

Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1 , Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1

Leber Congenital Amaurosis Associated with Mutations in CEP290, Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

Genetics, Clinical Characteristics, and Natural History of PDE6B-Associated Retinal Dystrophy

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes

Axial Length Distributions in Patients With Genetically Confirmed Inherited Retinal Diseases

Retinal Structure and Function in Achromatopsia

Genotype-Dependent Variability in Residual Cone Structure in Achromatopsia: Toward Developing Metrics for Assessing Cone Health

SLC38A8 mutation spectrum in foveal hypoplasia

Aktive Filter

Suchergebnisse filtern