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...

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs

Investigative ophthalmology & visual science, 2017-01, Vol.58 (1), p.394-403

2017

Volltextzugriff (PDF)

Reducing Timp3 or vitronectin ameliorates disease manifestations in CADASIL mice

Annals of neurology, 2016-03, Vol.79 (3), p.387-403

2016

Volltextzugriff (PDF)

Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations

International journal of molecular sciences, 2022-12, Vol.23 (24), p.16007

2022

Volltextzugriff (PDF)

The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association

Human molecular genetics, 2012-11, Vol.21 (21), p.4573-4586

2012

Volltextzugriff (PDF)

Mitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Disease

International journal of molecular sciences, 2024-01, Vol.25 (2), p.963

2024

Volltextzugriff (PDF)

TMEM16B, A Novel Protein with Calcium-Dependent Chloride Channel Activity, Associates with a Presynaptic Protein Complex in Photoreceptor Terminals

The Journal of neuroscience, 2009-05, Vol.29 (21), p.6809-6818

2009

Volltextzugriff (PDF)

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes

Investigative ophthalmology & visual science, 2015-04, Vol.56 (4), p.2664

2015

Volltextzugriff (PDF)

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene

International journal of molecular sciences, 2020-12, Vol.21 (24), p.9353

2020

Volltextzugriff (PDF)

Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study

Investigative ophthalmology & visual science, 2018-03, Vol.59 (4), p.AMD122-AMD131

2018

Volltextzugriff (PDF)

Reticular Pseudodrusen in Sorsby Fundus Dystrophy

Ophthalmology (Rochester, Minn.), 2015-08, Vol.122 (8), p.1555-1562

2015

Volltextzugriff (PDF)

Evolution and functional divergence of the anoctamin family of membrane proteins

BMC evolutionary biology, 2010-10, Vol.10 (1), p.319

2010

Volltextzugriff (PDF)

cDNA Cloning, Genomic Structure, and Chromosomal Localization of Three Members of the Human Fatty Acid Desaturase Family

Genomics (San Diego, Calif.), 2000-06, Vol.66 (2), p.175-183

2000

Volltextzugriff (PDF)

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

HGG advances, 2023-10, Vol.4 (4), p.100237-100237, Article 100237

2023

Volltextzugriff (PDF)

A Comprehensive Survey of Sequence Variation in the ABCA4 ( ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

American journal of human genetics, 2000-10, Vol.67 (4), p.800-813

2000

Volltextzugriff (PDF)

Abnormal Vessel Formation in the Choroid of Mice Lacking Tissue Inhibitor of Metalloprotease-3

Investigative ophthalmology & visual science, 2008-07, Vol.49 (7), p.2812-2822

2008

Volltextzugriff (PDF)

Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1

Ophthalmic genetics, 2016-01, Vol.37 (1), p.102-108

2016

Volltextzugriff (PDF)

Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1

Ophthalmic genetics, 2016-06, Vol.37 (2), p.201-208

2016

Volltextzugriff (PDF)

Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family

European journal of human genetics : EJHG, 2002-05, Vol.10 (4), p.281-284

2002

Volltextzugriff (PDF)

Sorsby fundus dystrophy: Insights from the past and looking to the future

Journal of neuroscience research, 2019-01, Vol.97 (1), p.88-97

2019

Volltextzugriff (PDF)

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

Investigative ophthalmology & visual science, 2018-05, Vol.59 (6), p.2305-2315

2018

Volltextzugriff (PDF)

FAM161A, a novel centrosomal-ciliary protein implicated in autosomal recessive retinitis pigmentosa

Advances in experimental medicine and biology, 2014, Vol.801, p.185

2014

Volltextzugriff (PDF)

Three novel ABCC5 splice variants in human retina and their role as regulators of ABCC5 gene expression

BMC molecular biology, 2007-05, Vol.8 (1), p.42-42, Article 42

2007

Volltextzugriff (PDF)

Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease

Human mutation, 2019-10, Vol.40 (10), p.1749-1759

2019

Volltextzugriff (PDF)

1 – 25 von 74

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(66)
Mit Volltextzugriff
(57)

Publikationsform

Sprache

Englisch
(71)
Deutsch
(2)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs

Reducing Timp3 or vitronectin ameliorates disease manifestations in CADASIL mice

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations

The retinitis pigmentosa 28 protein FAM161A is a novel ciliary protein involved in intermolecular protein interaction and microtubule association

Mitochondrial and Cellular Function in Fibroblasts, Induced Neurons, and Astrocytes Derived from Case Study Patients: Insights into Major Depression as a Mitochondria-Associated Disease

TMEM16B, A Novel Protein with Calcium-Dependent Chloride Channel Activity, Associates with a Presynaptic Protein Complex in Photoreceptor Terminals

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene

Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study

Reticular Pseudodrusen in Sorsby Fundus Dystrophy

Evolution and functional divergence of the anoctamin family of membrane proteins

cDNA Cloning, Genomic Structure, and Chromosomal Localization of Three Members of the Human Fatty Acid Desaturase Family

Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability

A Comprehensive Survey of Sequence Variation in the ABCA4 ( ABCR) Gene in Stargardt Disease and Age-Related Macular Degeneration

Abnormal Vessel Formation in the Choroid of Mice Lacking Tissue Inhibitor of Metalloprotease-3

Long-Term Macular Changes in the First Proband of Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Due to a Newly Identified Mutation in BEST1

Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1

Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family

Sorsby fundus dystrophy: Insights from the past and looking to the future

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease

FAM161A, a novel centrosomal-ciliary protein implicated in autosomal recessive retinitis pigmentosa

Three novel ABCC5 splice variants in human retina and their role as regulators of ABCC5 gene expression

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

Cost‐effective molecular inversion probe‐based ABCA4 sequencing reveals deep‐intronic variants in Stargardt disease

Suchergebnisse filtern