UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 275

Sortiert nach

Rod genesis driven by mafba in an nrl knockout zebrafish model with altered photoreceptor composition and progressive retinal degeneration

PLoS genetics, 2022-03, Vol.18 (3), p.e1009841-e1009841

2022

Volltextzugriff (PDF)

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

Nature genetics, 2012-03, Vol.44 (3), p.254-256

2012

Volltextzugriff (PDF)

HTRA1 Promoter Polymorphism in Wet Age-Related Macular Degeneration

Science (American Association for the Advancement of Science), 2006-11, Vol.314 (5801), p.989-992

2006

Volltextzugriff (PDF)

A PCR-Based Method for RNA Probes and Applications in Neuroscience

Frontiers in neuroscience, 2018-05, Vol.12, p.266-266

2018

Volltextzugriff (PDF)

Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration

The Journal of biological chemistry, 2019-09, Vol.294 (38), p.13953-13963

2019

Volltextzugriff (PDF)

Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy

Scientific reports, 2017-04, Vol.7 (1), p.46098-46098, Article 46098

2017

Volltextzugriff (PDF)

Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy

Human genetics, 2018-10, Vol.137 (10), p.779-794

2018

Volltextzugriff (PDF)

Sumoylation differentially regulates Sp1 to control cell differentiation

Proceedings of the National Academy of Sciences - PNAS, 2014-04, Vol.111 (15), p.5574-5579

2014

Volltextzugriff (PDF)

HSF4 regulates lens fiber cell differentiation by activating p53 and its downstream regulators

Cell death & disease, 2017-10, Vol.8 (10), p.e3082-e3082

2017

Volltextzugriff (PDF)

Proportion and risk factors of zonulopathy in patients with age-related cataract

Heliyon, 2024-04, Vol.10 (7), p.e28644-e28644, Article e28644

2024

Volltextzugriff (PDF)

Cross-species single-cell landscapes identify the pathogenic gene characteristics of inherited retinal diseases

Frontiers in genetics, 2024-07, Vol.15, p.1409016

2024

Volltextzugriff (PDF)

Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy

Science China. Life sciences, 2023-09, Vol.66 (9), p.2152-2166

2023

Volltextzugriff (PDF)

Copper overload impairs hematopoietic stem and progenitor cell proliferation via prompting HSF1/SP1 aggregation and the subsequently downregulating FOXM1-Cytoskeleton axis

iScience, 2023-04, Vol.26 (4), p.106406-106406, Article 106406

2023

Volltextzugriff (PDF)

Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis

Scientific reports, 2016-04, Vol.6 (1), p.24226-24226, Article 24226

2016

Volltextzugriff (PDF)

Fixation Behavior in Primary Open Angle Glaucoma at Early and Moderate Stage Assessed by the MicroPerimeter MP-1

Journal of glaucoma, 2013-02, Vol.22 (2), p.169-173

2013

Volltextzugriff (PDF)

Retinal degeneration in rpgra mutant zebrafish

Frontiers in cell and developmental biology, 2023-06, Vol.11, p.1169941-1169941

2023

Volltextzugriff (PDF)

Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population

Human genetics, 2009-12, Vol.126 (6), p.843-849

2009

Volltextzugriff (PDF)

Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-10, Vol.153B (7), p.1305-1310

2010

Volltextzugriff (PDF)

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome

Nature, 2004-02, Vol.427 (6975), p.640-645

2004

Volltextzugriff (PDF)

Significant association of SNP rs2106261 in the ZFHX3 gene with atrial fibrillation in a Chinese Han GeneID population

Human genetics, 2011-03, Vol.129 (3), p.239-246

2011

Volltextzugriff (PDF)

The splicing factor DHX38 enables retinal development through safeguarding genome integrity

iScience, 2023-11, Vol.26 (11), p.108103-108103, Article 108103

2023

Volltextzugriff (PDF)

Expression of ZnT and ZIP Zinc Transporters in the Human RPE and Their Regulation by Neurotrophic Factors

Investigative ophthalmology & visual science, 2008-03, Vol.49 (3), p.1221-1231

2008

Volltextzugriff (PDF)

p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus

Frontiers in cell and developmental biology, 2020-11, Vol.8, p.591781-591781

2020

Volltextzugriff (PDF)

Knockout of mafba Causes Inner-Ear Developmental Defects in Zebrafish via the Impairment of Proliferation and Differentiation of Ionocyte Progenitor Cells

Biomedicines, 2021-11, Vol.9 (11), p.1699

2021

Volltextzugriff (PDF)

Functional Analysis of TBX5 Missense Mutations Associated with Holt-Oram Syndrome

The Journal of biological chemistry, 2003-03, Vol.278 (10), p.8780-8785

2003

Volltextzugriff (PDF)

1 – 25 von 275

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(188)
Mit Volltextzugriff
(238)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(200)
Life Sciences & Biomedicine
(99)
Humans
(88)
Technology
(85)
Telecommunications
(70)
Engineering
(69)
Engineering, Electrical & Electronic
(69)
Male
(56)
Female
(50)
Mutation
(47)
Animals
(42)
Pedigree
(40)
Biochemistry & Molecular Biology
(39)
Adult
(28)
Genetics & Heredity
(28)
Computer Science
(27)
Asian Continental Ancestry Group - Genetics
(26)
Base Sequence
(26)
Cell Biology
(25)
Computer Science, Information Systems
(25)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(8)

Menü

Weitere Dienste

Einstellungen

Rod genesis driven by mafba in an nrl knockout zebrafish model with altered photoreceptor composition and progressive retinal degeneration

Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis

HTRA1 Promoter Polymorphism in Wet Age-Related Macular Degeneration

A PCR-Based Method for RNA Probes and Applications in Neuroscience

Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degeneration

Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy

Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy

Sumoylation differentially regulates Sp1 to control cell differentiation

HSF4 regulates lens fiber cell differentiation by activating p53 and its downstream regulators

Proportion and risk factors of zonulopathy in patients with age-related cataract

Cross-species single-cell landscapes identify the pathogenic gene characteristics of inherited retinal diseases

Functional characterization of novel NPRL3 mutations identified in three families with focal epilepsy

Copper overload impairs hematopoietic stem and progenitor cell proliferation via prompting HSF1/SP1 aggregation and the subsequently downregulating FOXM1-Cytoskeleton axis

Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial Porokeratosis

Fixation Behavior in Primary Open Angle Glaucoma at Early and Moderate Stage Assessed by the MicroPerimeter MP-1

Retinal degeneration in rpgra mutant zebrafish

Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han population

Identification of a novel genetic locus on chromosome 8p21.1-q11.23 for idiopathic basal ganglia calcification

Identification of an angiogenic factor that when mutated causes susceptibility to Klippel-Trenaunay syndrome

Significant association of SNP rs2106261 in the ZFHX3 gene with atrial fibrillation in a Chinese Han GeneID population

The splicing factor DHX38 enables retinal development through safeguarding genome integrity

Expression of ZnT and ZIP Zinc Transporters in the Human RPE and Their Regulation by Neurotrophic Factors

p.His16Arg of STXBP1 (MUNC18-1) Associated With Syntaxin 3B Causes Autosomal Dominant Congenital Nystagmus

Knockout of mafba Causes Inner-Ear Developmental Defects in Zebrafish via the Impairment of Proliferation and Differentiation of Ionocyte Progenitor Cells

Functional Analysis of TBX5 Missense Mutations Associated with Holt-Oram Syndrome

Suchergebnisse filtern