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...

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

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

2020

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease

Npj genomic medicine, 2024-05, Vol.9 (1), p.31-31, Article 31

2024

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Retinal Manifestations in Spinocerebellar Ataxia Type 3

Journal of neuro-ophthalmology, 2024-03, Vol.44 (1), p.e3-e5

2024

Volltextzugriff (PDF)

Disparities in Inherited Retinal Degenerations

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

2023

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression

American journal of human genetics, 2024-09, Vol.111 (9), p.2012-2030

2024

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

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

2019

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY

Retinal cases & brief reports, 2023-09, Vol.17 (5), p.533-537

2023

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Systemic Diseases Associated with Retinal Dystrophies

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

2014

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics

JCI insight, 2024-09

2024

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Course of Ocular Function in PRPF31 Retinitis Pigmentosa

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

2016

Volltextzugriff (PDF)

Expanding the phenotypic spectrum in RDH12-associated retinal disease

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

2020

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration

Genetics in medicine, 2018-08, Vol.21 (3), p.694-704

2018

Volltextzugriff (PDF)

Genetic Testing

Albert and Jakobiec's Principles and Practice of Ophthalmology, p.2859-2866

Volltextzugriff (PDF)

The current status of state notification of private screening services: A discussion of the benefits and challenges of a private-public interaction in newborn screening

Place, Emily M

2008

Volltextzugriff (PDF)

1 – 25 von 59

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(54)
Mit Volltextzugriff
(45)

Publikationsform

Sprache

Englisch
(59)
Japanisch
(7)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(3)

Menü

Weitere Dienste

Einstellungen

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

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

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

Structure-based network analysis predicts pathogenic variants in human proteins associated with inherited retinal disease

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

Retinal Manifestations in Spinocerebellar Ataxia Type 3

Disparities in Inherited Retinal Degenerations

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

Substitution of a single non-coding nucleotide upstream of TMEM216 causes non-syndromic retinitis pigmentosa and is associated with reduced TMEM216 expression

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

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

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

RP2 X-LINKED RETINITIS PIGMENTOSA CARRIER STATE PRESENTING WITH VASCULAR LEAKAGE AND UNILATERAL MACULAR ATROPHY

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

Systemic Diseases Associated with Retinal Dystrophies

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

Targeted long-read sequencing enriches disease-relevant genomic regions of interest to provide complete Mendelian disease diagnostics

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

Course of Ocular Function in PRPF31 Retinitis Pigmentosa

Expanding the phenotypic spectrum in RDH12-associated retinal disease

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

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

Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration

Genetic Testing

The current status of state notification of private screening services: A discussion of the benefits and challenges of a private-public interaction in newborn screening

Suchergebnisse filtern