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The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1

Nature communications, 2023-02, Vol.14 (1), p.972-972, Article 972

2023

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The role of syntaxins in retinal function and health

Frontiers in cellular neuroscience, 2024, Vol.18, p.1380064-1380064

2024

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The Neuroprotective Role of Retbindin, a Metabolic Regulator in the Neural Retina

Frontiers in pharmacology, 2022-07, Vol.13, p.919667-919667

2022

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A novel function of Huntingtin in the cilium and retinal ciliopathy in Huntington's disease mice

Neurobiology of disease, 2015-08, Vol.80, p.15-28

2015

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KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

Genome Biology, 2015-12, Vol.16 (1), p.293-293, Article 293

2015

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Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization

Communications biology, 2023-09, Vol.6 (1), p.933-933, Article 933

2023

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The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases

Cells (Basel, Switzerland), 2020-03, Vol.9 (3), p.784

2020

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Syntaxin 3 is essential for photoreceptor outer segment protein trafficking and survival

Proceedings of the National Academy of Sciences - PNAS, 2020-08, Vol.117 (34), p.20615-20624

2020

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Prph2 disease mutations lead to structural and functional defects in the RPE

The FASEB journal, 2022-05, Vol.36 (5), p.e22284-n/a

2022

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Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy

Investigative ophthalmology & visual science, 2017-08, Vol.58 (10), p.3950-3959

2017

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Tackling the Limitations of Copolymeric Small Interfering RNA Delivery Agents by a Combined Experimental–Computational Approach

Biomacromolecules, 2019-12, Vol.20 (12), p.4389-4406

2019

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Effective intravitreal gene delivery to retinal pigment epithelium with hyaluronic acid nanospheres

Molecular therapy. Nucleic acids, 2024-06, Vol.35 (2), p.102222, Article 102222

2024

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Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy

Human mutation, 2014-10, Vol.35 (10), p.1153-1162

2014

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Deep Sequencing of the Human Retinae Reveals the Expression of Odorant Receptors

Frontiers in cellular neuroscience, 2017-01, Vol.11, p.03-03

2017

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Guideline recommendations on the use of allergen immunotherapy in house dust mite allergy: time for a change?

Journal of allergy and clinical immunology, 2017-07, Vol.140 (1), p.41-52

2017

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Placebo effects in allergen immunotherapy—An EAACI Task Force Position Paper

Allergy (Copenhagen), 2021-03, Vol.76 (3), p.629-647

2021

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Liming effects on microbial carbon use efficiency and its potential consequences for soil organic carbon stocks

Soil biology & biochemistry, 2024-04, Vol.191, p.109342, Article 109342

2024

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PCI Strategies in Patients with Acute Myocardial Infarction and Cardiogenic Shock

The New England journal of medicine, 2017-12, Vol.377 (25), p.2419-2432

2017

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Optimization of the lipase mediated epoxidation of monoterpenes using the design of experiments—Taguchi method

Process biochemistry (1991), 2016-10, Vol.51 (10), p.1479-1485

2016

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Diagnostic Tests Based on Human Basophils: Potentials, Pitfalls and Perspectives

International Archives of Allergy and Immunology, 2006-01, Vol.141 (1), p.79-90

2006

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Corrigendum to “Liming effects on microbial carbon use efficiency and its potential consequences for soil organic carbon stocks” [Soil Biol. Biochem. 191 109342]

Soil biology & biochemistry, 2024-08, p.109545, Article 109545

2024

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One-Year Outcomes after PCI Strategies in Cardiogenic Shock

The New England journal of medicine, 2018-11, Vol.379 (18), p.1699-1710

2018

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Intraaortic Balloon Support for Myocardial Infarction with Cardiogenic Shock

The New England journal of medicine, 2012-10, Vol.367 (14), p.1287-1296

2012

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The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1

The role of syntaxins in retinal function and health

The Neuroprotective Role of Retbindin, a Metabolic Regulator in the Neural Retina

A novel function of Huntingtin in the cilium and retinal ciliopathy in Huntington's disease mice

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

Expression of the human usherin c.2299delG mutation leads to early-onset auditory loss and stereocilia disorganization

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

The Interplay between Peripherin 2 Complex Formation and Degenerative Retinal Diseases

Syntaxin 3 is essential for photoreceptor outer segment protein trafficking and survival

Prph2 disease mutations lead to structural and functional defects in the RPE

Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy

Tackling the Limitations of Copolymeric Small Interfering RNA Delivery Agents by a Combined Experimental–Computational Approach

Effective intravitreal gene delivery to retinal pigment epithelium with hyaluronic acid nanospheres

Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy

Deep Sequencing of the Human Retinae Reveals the Expression of Odorant Receptors

Guideline recommendations on the use of allergen immunotherapy in house dust mite allergy: time for a change?

Placebo effects in allergen immunotherapy—An EAACI Task Force Position Paper

Liming effects on microbial carbon use efficiency and its potential consequences for soil organic carbon stocks

PCI Strategies in Patients with Acute Myocardial Infarction and Cardiogenic Shock

Optimization of the lipase mediated epoxidation of monoterpenes using the design of experiments—Taguchi method

Diagnostic Tests Based on Human Basophils: Potentials, Pitfalls and Perspectives

Corrigendum to “Liming effects on microbial carbon use efficiency and its potential consequences for soil organic carbon stocks” [Soil Biol. Biochem. 191 109342]

One-Year Outcomes after PCI Strategies in Cardiogenic Shock

Intraaortic Balloon Support for Myocardial Infarction with Cardiogenic Shock

Intra-aortic balloon counterpulsation in acute myocardial infarction complicated by cardiogenic shock (IABP-SHOCK II): final 12 month results of a randomised, open-label trial

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