UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 752

Sortiert nach

Leber Congenital Amaurosis–A Model for Efficient Genetic Testing of Heterogeneous Disorders: LXIV Edward Jackson Memorial Lecture

American journal of ophthalmology, 2007-12, Vol.144 (6), p.791-811.e6

Stone, Edwin M

2007

Link zum Volltext

Verfügbarkeit prüfen

Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration

Proceedings of the National Academy of Sciences - PNAS, 2019-11, Vol.116 (48), p.24100-24107

2019

Link zum Volltext

Verfügbarkeit prüfen

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

Ophthalmology (Rochester, Minn.), 2017-09, Vol.124 (9), p.1314-1331

2017

Link zum Volltext

Verfügbarkeit prüfen

Genetic testing for age-related macular degeneration: not indicated now

JAMA ophthalmology, 2015-05, Vol.133 (5), p.598

Stone, Edwin M

2015

Link zum Volltext

Verfügbarkeit prüfen

Complement activation and choriocapillaris loss in early AMD: Implications for pathophysiology and therapy

Progress in retinal and eye research, 2015-03, Vol.45, p.1-29

2015

Link zum Volltext

Verfügbarkeit prüfen

Aflibercept Therapy for Exudative Age-related Macular Degeneration Resistant to Bevacizumab and Ranibizumab

American journal of ophthalmology, 2013-07, Vol.156 (1), p.15-22.e1

2013

Link zum Volltext

Verfügbarkeit prüfen

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

The Journal of biological chemistry, 2012-06, Vol.287 (24), p.20625-20635

2012

Link zum Volltext

Verfügbarkeit prüfen

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Molecular genetics and metabolism, 2016-03, Vol.117 (3), p.313-321

2016

Link zum Volltext

Verfügbarkeit prüfen

Two-photon polymerization for production of human iPSC-derived retinal cell grafts

Acta biomaterialia, 2017-06, Vol.55, p.385-395

2017

Link zum Volltext

Verfügbarkeit prüfen

Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration

Molecular therapy, 2017-09, Vol.25 (9), p.1999-2013

2017

Link zum Volltext

Verfügbarkeit prüfen

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

Human molecular genetics, 2012-05, Vol.21 (9), p.1945-1953

2012

Link zum Volltext

Verfügbarkeit prüfen

The membrane attack complex in aging human choriocapillaris: relationship to macular degeneration and choroidal thinning

The American journal of pathology, 2014-11, Vol.184 (11), p.3142-3153

2014

Link zum Volltext

Verfügbarkeit prüfen

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1

PloS one, 2017-01, Vol.12 (1), p.e0169215-e0169215

2017

Link zum Volltext

Verfügbarkeit prüfen

Primary congenital and developmental glaucomas

Human molecular genetics, 2017-08, Vol.26 (R1), p.R28-R36

2017

Link zum Volltext

Verfügbarkeit prüfen

Choriocapillaris Degeneration in Geographic Atrophy

The American journal of pathology, 2019-07, Vol.189 (7), p.1473-1480

2019

Link zum Volltext

Verfügbarkeit prüfen

Familial Glaucoma-A Pedigree Revisited With Genetic Testing After 70 Years

JAMA ophthalmology, 2022-05, Vol.140 (5), p.543

2022

Link zum Volltext

Verfügbarkeit prüfen

Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

Progress in retinal and eye research, 2015-01, Vol.44, p.15-35

2015

Link zum Volltext

Verfügbarkeit prüfen

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

Proceedings of the National Academy of Sciences - PNAS, 2011-08, Vol.108 (34), p.E569-E576

2011

Link zum Volltext

Verfügbarkeit prüfen

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP

Proceedings of the National Academy of Sciences - PNAS, 2019-01, Vol.116 (4), p.1353-1360

2019

Link zum Volltext

Verfügbarkeit prüfen

Bestrophinopathy: An RPE-photoreceptor interface disease

Progress in retinal and eye research, 2017-05, Vol.58, p.70-88

2017

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations

Investigative ophthalmology & visual science, 2013-12, Vol.54 (13), p.8181-8190

2013

Link zum Volltext

Verfügbarkeit prüfen

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

Human molecular genetics, 2013-12, Vol.22 (25), p.5136-5145

2013

Link zum Volltext

Verfügbarkeit prüfen

Single-cell RNA sequencing in vision research: Insights into human retinal health and disease

Progress in retinal and eye research, 2021-07, Vol.83, p.100934-100934, Article 100934

2021

Link zum Volltext

Verfügbarkeit prüfen

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

Proceedings of the National Academy of Sciences - PNAS, 2011-12, Vol.108 (51), p.20678-20683

2011

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 752

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(638)
Mit Volltextzugriff
(632)

Publikationsform

4 weitere anzeigen...

Weniger anzeigen...

Sprache

Englisch
(750)
Japanisch
(111)
Spanisch
(1)
Russisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

MEDLINE
(543)
EZB Free E-Journals
(354)
Single Journals
(310)
IngentaConnect
(308)
Journals@Ovid Complete
(279)
Elsevier ScienceDirect Journals
(171)
IngentaConnect Journals
(121)
Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
(61)
Wiley Online Library Journals Frontfile Complete
(57)
Oxford Journals
(54)
JSTOR Complete Journals
(54)
Oxford Journals 2020 Medicine
(50)
Wiley Online Library Full Collection 2018
(44)
Nature Journals
(38)
Taylor & Francis:Master (3349 titles)
(28)
Taylor & Francis
(28)
Nexis Uni
(26)
Springer Nature - Complete Springer Journals
(21)
SAGE Complete
(18)
Science Magazine
(11)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Leber Congenital Amaurosis–A Model for Efficient Genetic Testing of Heterogeneous Disorders: LXIV Edward Jackson Memorial Lecture

Single-cell transcriptomics of the human retinal pigment epithelium and choroid in health and macular degeneration

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease

Genetic testing for age-related macular degeneration: not indicated now

Complement activation and choriocapillaris loss in early AMD: Implications for pathophysiology and therapy

Aflibercept Therapy for Exudative Age-related Macular Degeneration Resistant to Bevacizumab and Ranibizumab

Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome

Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

Two-photon polymerization for production of human iPSC-derived retinal cell grafts

Using CRISPR-Cas9 to Generate Gene-Corrected Autologous iPSCs for the Treatment of Inherited Retinal Degeneration

BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

The membrane attack complex in aging human choriocapillaris: relationship to macular degeneration and choroidal thinning

Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1

Primary congenital and developmental glaucomas

Choriocapillaris Degeneration in Geographic Atrophy

Familial Glaucoma-A Pedigree Revisited With Genetic Testing After 70 Years

Patient-specific induced pluripotent stem cells (iPSCs) for the study and treatment of retinal degenerative diseases

Exome sequencing and analysis of induced pluripotent stem cells identify the cilia-related gene male germ cell-associated kinase (MAK) as a cause of retinitis pigmentosa

Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP

Bestrophinopathy: An RPE-photoreceptor interface disease

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

A longitudinal study of Stargardt disease: quantitative assessment of fundus autofluorescence, progression, and genotype correlations

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease

Single-cell RNA sequencing in vision research: Insights into human retinal health and disease

Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

Suchergebnisse filtern