UB Paderborn / Katalog / Suche / in CDI

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

Human mutation, 2022-04, Vol.43 (4), p.487-498

2022

Link zum Volltext

Verfügbarkeit prüfen

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

Cell, 2010-01, Vol.140 (1), p.74-87

2010

Link zum Volltext

Verfügbarkeit prüfen

Graft‐versus‐host‐disease‐like disease in a patient with thymic lipomatosis

Journal of dermatology, 2021-09, Vol.48 (9), p.e458-e459

2021

Link zum Volltext

Verfügbarkeit prüfen

Diagnostic Distinctions and Genetic Analysis of Patients Diagnosed with Moebius Syndrome

Ophthalmology (Rochester, Minn.), 2014-07, Vol.121 (7), p.1461-1468

2014

Link zum Volltext

Verfügbarkeit prüfen

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

Human molecular genetics, 2012-12, Vol.21 (26), p.5484-5499

2012

Link zum Volltext

Verfügbarkeit prüfen

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

American journal of human genetics, 2016-06, Vol.98 (6), p.1220-1227

2016

Link zum Volltext

Verfügbarkeit prüfen

Human CFEOM1 Mutations Attenuate KIF21A Autoinhibition and Cause Oculomotor Axon Stalling

Neuron (Cambridge, Mass.), 2014-04, Vol.82 (2), p.334-349

2014

Link zum Volltext

Verfügbarkeit prüfen

Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome

The Journal of clinical investigation, 2017-05, Vol.127 (5), p.1664-1682

2017

Link zum Volltext

Verfügbarkeit prüfen

Biallelic mutations in human DCC cause developmental split-brain syndrome

Nature genetics, 2017-04, Vol.49 (4), p.606-612

2017

Link zum Volltext

Verfügbarkeit prüfen

Walking for transportation in Hong Kong Chinese urban elders: a cross-sectional study on what destinations matter and when

The international journal of behavioral nutrition and physical activity, 2013-06, Vol.10 (1), p.78-78

2013

Link zum Volltext

Verfügbarkeit prüfen

Initial evaluation of a femtosecond laser system in cataract surgery

Journal of cataract and refractive surgery, 2014-01, Vol.40 (1), p.29

2014

Link zum Volltext

Verfügbarkeit prüfen

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development

American journal of medical genetics. Part A, 2016-02, Vol.170A (2), p.297-305

2016

Link zum Volltext

Verfügbarkeit prüfen

Aqueous Humor Levels of Vascular Endothelial Growth Factor and Pigment Epithelium–Derived Factor in Polypoidal Choroidal Vasculopathy and Choroidal Neovascularization

American journal of ophthalmology, 2006-03, Vol.141 (3), p.456-462

2006

Link zum Volltext

Verfügbarkeit prüfen

Walking for Recreation and Perceptions of the Neighborhood Environment in Older Chinese Urban Dwellers

Journal of urban health, 2013-02, Vol.90 (1), p.56-66

2013

Link zum Volltext

Verfügbarkeit prüfen

The therapeutic profile of rolipram, PDE target and mechanism of action as a neuroprotectant following spinal cord injury

PloS one, 2012-09, Vol.7 (9), p.e43634-e43634

2012

Link zum Volltext

Verfügbarkeit prüfen

Regional Variations in the Relationship between Macular Thickness Measurements and Myopia

Investigative ophthalmology & visual science, 2007-01, Vol.48 (1), p.376-382

2007

Link zum Volltext

Verfügbarkeit prüfen

Reliable and valid NEWS for Chinese seniors: measuring perceived neighborhood attributes related to walking

The international journal of behavioral nutrition and physical activity, 2010-11, Vol.7 (1), p.84-84

2010

Link zum Volltext

Verfügbarkeit prüfen

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

International journal of molecular sciences, 2021-03, Vol.22 (5), p.2575

2021

Link zum Volltext

Verfügbarkeit prüfen

Intravitreal ranibizumab for the primary treatment of choroidal neovascularization secondary to pathologic myopia

Retina (Philadelphia, Pa.), 2009-06, Vol.29 (6), p.750

2009

Link zum Volltext

Verfügbarkeit prüfen

Effect of Gender on Recovery After Spinal Cord Injury

Translational stroke research, 2013-08, Vol.4 (4), p.447-461

2013

Link zum Volltext

Verfügbarkeit prüfen

Intravitreal Bevacizumab (Avastin) for Choroidal Neovascularization Secondary to Central Serous Chorioretinopathy, Secondary to Punctate Inner Choroidopathy, or of Idiopathic Origin

American journal of ophthalmology, 2007-06, Vol.143 (6), p.977-983.e1

2007

Link zum Volltext

Verfügbarkeit prüfen

An in-depth pilot study on patterns, destinations, and purposes of walking in Hong Kong older adults

Journal of aging and physical activity, 2015-01, Vol.23 (1), p.144

2015

Link zum Volltext

Verfügbarkeit prüfen

Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family

American journal of human genetics, 2002-11, Vol.71 (5), p.1195-1199

2002

Link zum Volltext

Verfügbarkeit prüfen

Menü

Weitere Dienste

Einstellungen

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

Human TUBB3 Mutations Perturb Microtubule Dynamics, Kinesin Interactions, and Axon Guidance

Graft‐versus‐host‐disease‐like disease in a patient with thymic lipomatosis

Diagnostic Distinctions and Genetic Analysis of Patients Diagnosed with Moebius Syndrome

A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation

Loss of MAFB Function in Humans and Mice Causes Duane Syndrome, Aberrant Extraocular Muscle Innervation, and Inner-Ear Defects

Human CFEOM1 Mutations Attenuate KIF21A Autoinhibition and Cause Oculomotor Axon Stalling

Human Schwann cells exhibit long‐term cell survival, are not tumorigenic and promote repair when transplanted into the contused spinal cord

Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome

Biallelic mutations in human DCC cause developmental split-brain syndrome

Walking for transportation in Hong Kong Chinese urban elders: a cross-sectional study on what destinations matter and when

Initial evaluation of a femtosecond laser system in cataract surgery

Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development

Aqueous Humor Levels of Vascular Endothelial Growth Factor and Pigment Epithelium–Derived Factor in Polypoidal Choroidal Vasculopathy and Choroidal Neovascularization

Walking for Recreation and Perceptions of the Neighborhood Environment in Older Chinese Urban Dwellers

The therapeutic profile of rolipram, PDE target and mechanism of action as a neuroprotectant following spinal cord injury

Regional Variations in the Relationship between Macular Thickness Measurements and Myopia

Reliable and valid NEWS for Chinese seniors: measuring perceived neighborhood attributes related to walking

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

Intravitreal ranibizumab for the primary treatment of choroidal neovascularization secondary to pathologic myopia

Effect of Gender on Recovery After Spinal Cord Injury

Intravitreal Bevacizumab (Avastin) for Choroidal Neovascularization Secondary to Central Serous Chorioretinopathy, Secondary to Punctate Inner Choroidopathy, or of Idiopathic Origin

An in-depth pilot study on patterns, destinations, and purposes of walking in Hong Kong older adults

Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family

Suchergebnisse filtern