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...

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia

The European respiratory journal, 2021-08, Vol.58 (2), p.2002359

2021

Volltextzugriff (PDF)

13 ‘Don’t let it hold you back’: the experience of transition to adulthood in young people with primary ciliary dyskinesia

BMJ open, 2024-03, Vol.14 (Suppl 1), p.A5-A5

2024

Volltextzugriff (PDF)

‘Don’t let it hold you back’ — The experience of transition to adulthood in young people with primary ciliary dyskinesia: An interpretative phenomenological analysis

Journal of health psychology, 2024-08, Vol.29 (9), p.1029-1045

2024

Volltextzugriff (PDF)

Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project

Frontiers in genetics, 2019-03, Vol.10, p.127

2019

Volltextzugriff (PDF)

HYDIN variants cause primary ciliary dyskinesia in the Finnish population

Pediatric pulmonology, 2024-09

2024

Volltextzugriff (PDF)

CFAP300 mutation causing primary ciliary dyskinesia in Finland

Frontiers in genetics, 2022-09, Vol.13, p.985227

2022

Volltextzugriff (PDF)

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations

The European respiratory journal, 2024-08, Vol.64 (2), p.2301769

2024

Volltextzugriff (PDF)

Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation

Neurology. Genetics, 2020-08, Vol.6 (4), p.e482-e482

2020

Volltextzugriff (PDF)

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum

ERJ open research, 2023-03, Vol.9 (2), p.714

2023

Volltextzugriff (PDF)

Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Δex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease)

Human molecular genetics, 2015-12, Vol.24 (24), p.7060-7074

2015

Volltextzugriff (PDF)

Late onset neurodegeneration in the Cln3 −/− mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation

Brain research, 2004-10, Vol.1023 (2), p.231-242

2004

Volltextzugriff (PDF)

Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments

Journal of neuroscience research, 2006-10, Vol.84 (5), p.1124-1138

2006

Volltextzugriff (PDF)

Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School

BMC proceedings, 2020-06, Vol.14 (S8), p.1-7, Article 7

2020

Volltextzugriff (PDF)

Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project

Frontiers in genetics, 2019, Vol.10, p.569-569

2019

Volltextzugriff (PDF)

Altered Cerebellar Short-Term Plasticity but No Change in Postsynaptic AMPA-Type Glutamate Receptors in a Mouse Model of Juvenile Batten Disease

eNeuro, 2018-03, Vol.5 (2), p.ENEURO.0387-17.2018

2018

Volltextzugriff (PDF)

Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation

Neurology. Genetics, 2020-08, Vol.6 (4)

2020

Volltextzugriff (PDF)

A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses

Journal of biomolecular NMR, 2011-04, Vol.49 (3-4), p.175-184

2011

Volltextzugriff (PDF)

CILIA2012: Cilia in development and disease

Cilia (London), 2012-11, Vol.1 (S1), p.I1-I1, Article I1

2012

Volltextzugriff (PDF)

Motile and non‐motile cilia in human pathology: from function to phenotypes

The Journal of pathology, 2017-03, Vol.241 (4), p.564-564

2017

Volltextzugriff (PDF)

Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impact

BMC pulmonary medicine, 2003-11, Vol.3 (1), p.4-4, Article 4

2003

Volltextzugriff (PDF)

The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies

Cilia (London), 2015-03, Vol.4 (1), p.5-5, Article 5

2015

Volltextzugriff (PDF)

Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Nature communications, 2016-03, Vol.7 (1), p.1-1, Article 11270

2016

Volltextzugriff (PDF)

1 – 25 von 65

Suche als RSS-Feed

Aktive Filter

ThemaHumans

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(58)
Mit Volltextzugriff
(56)

Publikationsform

Artikel
(62)
Buchkapitel
(3)

Sprache

Englisch
(65)

Erscheinungsjahr

n.n

Neu hinzugefügt

... seit 30 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Topological data analysis reveals genotype-phenotype relationships in primary ciliary dyskinesia

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort

13 ‘Don’t let it hold you back’: the experience of transition to adulthood in young people with primary ciliary dyskinesia

‘Don’t let it hold you back’ — The experience of transition to adulthood in young people with primary ciliary dyskinesia: An interpretative phenomenological analysis

Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

HYDIN variants cause primary ciliary dyskinesia in the Finnish population

CFAP300 mutation causing primary ciliary dyskinesia in Finland

Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype–phenotype correlations

Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation

The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum

Photoreceptor phagosome processing defects and disturbed autophagy in retinal pigment epithelium of Cln3Δex1-6 mice modelling juvenile neuronal ceroid lipofuscinosis (Batten disease)

Late onset neurodegeneration in the Cln3 −/− mouse model of juvenile neuronal ceroid lipofuscinosis is preceded by low level glial activation

Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments

Proceedings of the 4th BEAT-PCD Conference and 5th PCD Training School

Corrigendum: Opportunities and Challenges for Molecular Understanding of Ciliopathies-The 100,000 Genomes Project

Altered Cerebellar Short-Term Plasticity but No Change in Postsynaptic AMPA-Type Glutamate Receptors in a Mouse Model of Juvenile Batten Disease

Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation

A metabolomic comparison of mouse models of the Neuronal Ceroid Lipofuscinoses

CILIA2012: Cilia in development and disease

Motile and non‐motile cilia in human pathology: from function to phenotypes

Primary ciliary dyskinesia (Siewert's/Kartagener's syndrome): respiratory symptoms and psycho-social impact

The more we know, the more we have to discover: an exciting future for understanding cilia and ciliopathies

Correction: Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Mutations in CCDC 39 and CCDC 40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization and Absent Inner Dynein Arms

Aktive Filter

Suchergebnisse filtern