UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives

Progress in retinal and eye research, 2020-07, Vol.77, p.100827-100827, Article 100827

2020

Volltextzugriff (PDF)

Improvement and Decline in Vision with Gene Therapy in Childhood Blindness

The New England journal of medicine, 2015-05, Vol.372 (20), p.1920-1926

2015

Volltextzugriff (PDF)

Introducing Artur V. Cideciyan and Samuel G. Jacobson, the 2018 Recipients of the Proctor Medal

Investigative ophthalmology & visual science, 2019-04, Vol.60 (5), p.1677-1679

2019

Volltextzugriff (PDF)

Therapies for Inherited Retinal Dystrophies: What is Enough?

Drug discovery today, 2024-09, Vol.29 (9), p.104095, Article 104095

2024

Volltextzugriff (PDF)

Optical Coherence Tomography–Guided Decisions in Retinoblastoma Management

Ophthalmology (Rochester, Minn.), 2017-06, Vol.124 (6), p.859-872

2017

Volltextzugriff (PDF)

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome

Blood, 2017-03, Vol.129 (11), p.1557-1562

2017

Volltextzugriff (PDF)

Characterization of Retinal Structure in ATF6-Associated Achromatopsia

Investigative ophthalmology & visual science, 2019-06, Vol.60 (7), p.2631-2640

2019

Volltextzugriff (PDF)

Prenatal versus Postnatal Screening for Familial Retinoblastoma

Ophthalmology (Rochester, Minn.), 2016-12, Vol.123 (12), p.2610-2617

2016

Volltextzugriff (PDF)

Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin

Science (American Association for the Advancement of Science), 2002-02, Vol.295 (5557), p.1077-1079

2002

Volltextzugriff (PDF)

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

Proceedings of the National Academy of Sciences - PNAS, 2008-09, Vol.105 (39), p.15112-15117

2008

Volltextzugriff (PDF)

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1

Human molecular genetics, 2005-03, Vol.14 (6), p.725-733

2005

Volltextzugriff (PDF)

Intra-arterial Chemotherapy for Retinoblastoma: A Systematic Review

JAMA ophthalmology, 2016-05, Vol.134 (5), p.584

2016

Volltextzugriff (PDF)

Visual Function and Central Retinal Structure in Choroideremia

Investigative ophthalmology & visual science, 2016-07, Vol.57 (9), p.OCT377-OCT387

2016

Volltextzugriff (PDF)

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

Journal of bone and mineral research, 2016-08, Vol.31 (8), p.1577-1585

2016

Volltextzugriff (PDF)

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction

International journal of molecular sciences, 2022-06, Vol.23 (12), p.6868

2022

Volltextzugriff (PDF)

BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure

Proceedings of the National Academy of Sciences - PNAS, 2018-03, Vol.115 (12), p.E2839-E2848

2018

Volltextzugriff (PDF)

Healthcare recommendations for Joubert syndrome

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.229-249

2020

Volltextzugriff (PDF)

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

European journal of human genetics : EJHG, 2015-10, Vol.23 (10), p.1318-1327

2015

Volltextzugriff (PDF)

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

JAMA ophthalmology, 2017-07, Vol.135 (7), p.749

2017

Volltextzugriff (PDF)

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

Investigative ophthalmology & visual science, 2020-08, Vol.61 (10), p.36

2020

Volltextzugriff (PDF)

Gene therapy: perspectives from young adults with Leber's congenital amaurosis

Eye (London), 2022-11, Vol.36 (11), p.2088-2093

2022

Volltextzugriff (PDF)

Achromatopsia mutations target sequential steps of ATF6 activation

Proceedings of the National Academy of Sciences - PNAS, 2017-01, Vol.114 (2), p.400-405

2017

Volltextzugriff (PDF)

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations

JAMA ophthalmology, 2014-12, Vol.132 (12), p.1393

2014

Volltextzugriff (PDF)

Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations

Vision research (Oxford), 2023-02, Vol.203, p.108157-108157, Article 108157

2023

Volltextzugriff (PDF)

1 – 25 von 261

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(233)
Mit Volltextzugriff
(214)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Progress in treating inherited retinal diseases: Early subretinal gene therapy clinical trials and candidates for future initiatives

Improvement and Decline in Vision with Gene Therapy in Childhood Blindness

Introducing Artur V. Cideciyan and Samuel G. Jacobson, the 2018 Recipients of the Proctor Medal

Therapies for Inherited Retinal Dystrophies: What is Enough?

Optical Coherence Tomography–Guided Decisions in Retinoblastoma Management

Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome

Characterization of Retinal Structure in ATF6-Associated Achromatopsia

Prenatal versus Postnatal Screening for Familial Retinoblastoma

Adult-Onset Primary Open-Angle Glaucoma Caused by Mutations in Optineurin

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1

Intra-arterial Chemotherapy for Retinoblastoma: A Systematic Review

Visual Function and Central Retinal Structure in Choroideremia

Spondyloocular Syndrome: Novel Mutations in XYLT2 Gene and Expansion of the Phenotypic Spectrum

Novel OPN1LW/OPN1MW Exon 3 Haplotype-Associated Splicing Defect in Patients with X-Linked Cone Dysfunction

BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure

Healthcare recommendations for Joubert syndrome

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

Gene therapy: perspectives from young adults with Leber's congenital amaurosis

Achromatopsia mutations target sequential steps of ATF6 activation

Phenotypic overlap between familial exudative vitreoretinopathy and microcephaly, lymphedema, and chorioretinal dysplasia caused by KIF11 mutations

Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations

Suchergebnisse filtern