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Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

Clinical genetics, 2014-04, Vol.85 (4), p.393-395

2014

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Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

Journal of medical genetics, 2011-11, Vol.48 (11), p.767-775

2011

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Characterisation and Tribological Investigation on Thermally Processed Nanostructured Fe-Based and Cu-Based Cermet Materials

Journal of nanoscience and nanotechnology, 2010-02, Vol.10 (2), p.1179-1184

2010

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Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt Electroretinography

Investigative ophthalmology & visual science, 2015-11, Vol.56 (1), p.107-114

2015

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Giant axonal neuropathy – clinical trial preparedness and evaluation of markers of disease severity

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S284-S284

2015

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Diode laser transcleral cyclophotocoagulation for refractory glaucoma: a 1 year follow-up of patients treated using an aggressive protocol

Eye (London), 2006-03, Vol.20 (3), p.329-335

2006

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P444 Ophthalmologic findings following intrathecal AAV9 mediated gene transfer for Giant Axonal Neuropathy

Neuromuscular disorders : NMD, 2023-10, Vol.33, p.S189-S189

2023

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Особливості лікування цукрового діабету 2-го типу у людей похилого віку

Miz︠h︡narodnyĭ endokrynolohichnyĭ z︠h︡urnal, 2021-09, Vol.15 (6), p.488-500

2021

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HEREDITARY NEUROPATHIES & ALS

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S78

2020

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HEREDITARY NEUROPATHIES & ALS: P.107 Review of ophthalmologic findings following intrathecal gene transfer for giant axonal neuropathy

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S78-S78

2020

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DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

Human mutation, 2013-06, Vol.34 (6), p.827-835

2013

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Effect of hydrogen content in a-C:H coatings on their tribological behaviour at room temperature up to 150 °C

Surface & coatings technology, 2009-08, Vol.203 (22), p.3472-3479

2009

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Defining the clinical phenotype of Saul–Wilson syndrome

Genetics in medicine, 2020-05, Vol.22 (5), p.857-866

2020

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G.P.329 - Giant axonal neuropathy – clinical trial preparedness and evaluation of markers of disease severity

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S284-S284

2015

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Effect of hydrogen content in a-C:H coatings on their tribological behaviour at room temperature up to 150 @uoC

Surface & coatings technology, 2009-08, Vol.203 (22), p.3472-3479

2009

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Assessment of the corneal endothelium in acute ultraviolet keratitis

Medical science monitor, 2006-05, Vol.12 (5), p.MT23

2006

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Orbital osteoma arising adjacent to a foreign body

Ophthalmic plastic and reconstructive surgery, 2003-07, Vol.19 (4), p.327-330

2003

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Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

Clinical genetics, 2014, Vol.85 (4), p.393-395

2014

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An enhanced binary tree anti-collision technique for dynamically added tags in RFID systems

2010 2nd International Conference on Computer Engineering and Technology, 2010, Vol.7, p.V7-349-V7-353

2010

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The use of viscoelastics during pars plana vitrectomy in eyes with an anterior chamber intraocular lens

Ophthalmic surgery, lasers & imaging, 2003-09, Vol.34 (5), p.413

2003

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Bullous keratopathy treated with honey

Acta ophthalmologica Scandinavica, 2004-06, Vol.82 (3p1), p.312-313

2004

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Bilateral subperiosteal orbital hematomas and Henoch-Schönlein purpura

Archives of ophthalmology (1960), 2002-10, Vol.120 (10), p.1398

2002

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Role of the vision stimulator CAM in amblyopia

Ophtalmologie (Paris), 1987-10, Vol.1 (4), p.471

1987

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Shareholder Wealth Consequences of Insider Pledging of Company Stock as Collateral for Personal Loans

The Review of financial studies, 2019-12, Vol.32 (12), p.4810-4854

2019

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Asthma Is More Severe in Older Adults

PloS one, 2015-07, Vol.10 (7), p.e0133490-e0133490

2015

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Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

Characterisation and Tribological Investigation on Thermally Processed Nanostructured Fe-Based and Cu-Based Cermet Materials

Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt Electroretinography

Giant axonal neuropathy – clinical trial preparedness and evaluation of markers of disease severity

Diode laser transcleral cyclophotocoagulation for refractory glaucoma: a 1 year follow-up of patients treated using an aggressive protocol

P444 Ophthalmologic findings following intrathecal AAV9 mediated gene transfer for Giant Axonal Neuropathy

Особливості лікування цукрового діабету 2-го типу у людей похилого віку

HEREDITARY NEUROPATHIES & ALS

HEREDITARY NEUROPATHIES & ALS: P.107 Review of ophthalmologic findings following intrathecal gene transfer for giant axonal neuropathy

DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics

Effect of hydrogen content in a-C:H coatings on their tribological behaviour at room temperature up to 150 °C

Defining the clinical phenotype of Saul–Wilson syndrome

G.P.329 - Giant axonal neuropathy – clinical trial preparedness and evaluation of markers of disease severity

Effect of hydrogen content in a-C:H coatings on their tribological behaviour at room temperature up to 150 @uoC

Assessment of the corneal endothelium in acute ultraviolet keratitis

Orbital osteoma arising adjacent to a foreign body

Phenotypic variability of a likely FA2H founder mutation in a family with complicated hereditary spastic paraplegia

An enhanced binary tree anti-collision technique for dynamically added tags in RFID systems

The use of viscoelastics during pars plana vitrectomy in eyes with an anterior chamber intraocular lens

Bullous keratopathy treated with honey

Bilateral subperiosteal orbital hematomas and Henoch-Schönlein purpura

Role of the vision stimulator CAM in amblyopia

Shareholder Wealth Consequences of Insider Pledging of Company Stock as Collateral for Personal Loans

Asthma Is More Severe in Older Adults

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