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MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Proceedings of the National Academy of Sciences - PNAS, 2015-06, Vol.112 (25), p.E3236-E3245

2015

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Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

American journal of human genetics, 2009-11, Vol.85 (5), p.581-592

2009

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Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

American journal of human genetics, 2008-01, Vol.82 (1), p.19-31

2008

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Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

American journal of human genetics, 2007-08, Vol.81 (2), p.292-303

2007

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Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

American journal of human genetics, 2011-06, Vol.88 (6), p.767-777

2011

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The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

American journal of human genetics, 2009-06, Vol.84 (6), p.801-806

2009

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Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Investigative ophthalmology & visual science, 2004-10, Vol.45 (10), p.3683-3689

2004

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Brittle cornea syndrome: recognition, molecular diagnosis and management

Orphanet journal of rare diseases, 2013-05, Vol.8 (1), p.68-68, Article 68

2013

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Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

American journal of human genetics, 2004-07, Vol.75 (1), p.122-127

2004

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Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination

Human molecular genetics, 2007-07, Vol.16 (14), p.1773-1782

2007

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Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

Human mutation, 2008-08, Vol.29 (8), p.1017-1027

2008

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Cerebellar hypoplasia and Cohen syndrome: A confirmed association

American journal of medical genetics. Part A, 2010-09, Vol.152A (9), p.2390-2393

2010

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Differences in molecular structure in cross-linked polycationic nanoparticles synthesized using ARGET ATRP or UV-initiated polymerization

Polymer (Guilford), 2013-08, Vol.54 (17), p.4486-4492

2013

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ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Molecular genetics and metabolism, 2013-07, Vol.109 (3), p.289-295

2013

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Biomaterials for blood-contacting applications

Biomaterials, 1994-08, Vol.15 (10), p.737-744

1994

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Polycationic nanoparticles synthesized using ARGET ATRP for drug delivery

European journal of pharmaceutics and biopharmaceutics, 2013-08, Vol.84 (3), p.472-478

2013

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Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy

Investigative ophthalmology & visual science, 2011-06, Vol.52 (6), p.3730-3736

2011

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Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

American journal of human genetics, 2010-05, Vol.86 (5), p.686-695

2010

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Developmental and Tissue Expression of Xenopus laevis RPGR

Investigative ophthalmology & visual science, 2006-01, Vol.47 (1), p.348-356

2006

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Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2

Investigative ophthalmology & visual science, 2011-10, Vol.52 (11), p.7859-7865

2011

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A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

Molecular vision, 2010-12, Vol.16, p.2916-2922

2010

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Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)

European journal of human genetics : EJHG, 2012-05, Vol.20 (5), p.4-4

2012

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EUROPEAN STROKE PREVENTION STUDY 2: DIPYRIDAMOLE AND ACETYLSALICYLIC ACID IN THE SECONDARY PREVENTION OF STROKE

International journal of clinical practice (Esher), 1997-06, Vol.51 (4), p.205-208

Forbes, CD

1997

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Relationships of plasma viscosity, coagulation and fibrinolysis to coronary risk factors and angina

Thrombosis and haemostasis, 1991-04, Vol.65 (4), p.339-343

1991

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Retrospective cohort mortality study of workers at an aircraft maintenance facility. I. Epidemiological results

British Journal of Industrial Medicine, 1991-08, Vol.48 (8), p.515-530

1991

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MiR-204 is responsible for inherited retinal dystrophy associated with ocular coloboma

Missense Mutations in a Retinal Pigment Epithelium Protein, Bestrophin-1, Cause Retinitis Pigmentosa

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

Mapping of Deletion and Translocation Breakpoints in 1q44 Implicates the Serine/Threonine Kinase AKT3 in Postnatal Microcephaly and Agenesis of the Corpus Callosum

Mutations in PRDM5 in Brittle Cornea Syndrome Identify a Pathway Regulating Extracellular Matrix Development and Maintenance

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1

Mutations of VMD2 Splicing Regulators Cause Nanophthalmos and Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC)

Brittle cornea syndrome: recognition, molecular diagnosis and management

Delineation of Cohen Syndrome Following a Large-Scale Genotype-Phenotype Screen

Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination

Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome

Cerebellar hypoplasia and Cohen syndrome: A confirmed association

Differences in molecular structure in cross-linked polycationic nanoparticles synthesized using ARGET ATRP or UV-initiated polymerization

ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components

Biomaterials for blood-contacting applications

Polycationic nanoparticles synthesized using ARGET ATRP for drug delivery

Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

Developmental and Tissue Expression of Xenopus laevis RPGR

Identification of a novel locus for autosomal dominant primary open angle glaucoma on 4q35.1-q35.2

A synonymous codon variant in two patients with autosomal recessive bestrophinopathy alters in vitro splicing of BEST1

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies)

EUROPEAN STROKE PREVENTION STUDY 2: DIPYRIDAMOLE AND ACETYLSALICYLIC ACID IN THE SECONDARY PREVENTION OF STROKE

Relationships of plasma viscosity, coagulation and fibrinolysis to coronary risk factors and angina

Retrospective cohort mortality study of workers at an aircraft maintenance facility. I. Epidemiological results

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