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...

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Nature genetics, 1999-06, Vol.22 (2), p.199-202

1999

Volltextzugriff (PDF)

Genotype–phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism

British journal of ophthalmology, 2008-04, Vol.92 (4), p.513-517

2008

Volltextzugriff (PDF)

The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer

American journal of human genetics, 1999-11, Vol.65 (5), p.1261-1267

1999

Volltextzugriff (PDF)

Genetic Heterogeneity of the Coppock-like Cataract: A Mutation in CRYBB2 on Chromosome 22q11.2

Investigative ophthalmology & visual science, 2000-01, Vol.41 (1), p.159-165

2000

Volltextzugriff (PDF)

Allelic Variation in the VMD2 Gene in Best Disease and Age-Related Macular Degeneration

Investigative ophthalmology & visual science, 2000-05, Vol.41 (6), p.1291-1296

2000

Volltextzugriff (PDF)

Unilateral macular oedema in Zermatt and Stargardt macular dystrophies

British journal of ophthalmology, 2009-10, Vol.93 (10), p.1376-1377

2009

Volltextzugriff (PDF)

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract

Journal of medical genetics, 2003-11, Vol.40 (11), p.e124-124

2003

Volltextzugriff (PDF)

Potential blindness in children of patients with hereditary bone disease

Osteoporosis international, 2016-02, Vol.27 (2), p.841-844

2016

Volltextzugriff (PDF)

Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation

Eye (London), 2005-01, Vol.19 (1), p.92-96

2005

Volltextzugriff (PDF)

Aberrant Accumulation of EFEMP1 Underlies Drusen Formation in Malattia Leventinese and Age-Related Macular Degeneration

Proceedings of the National Academy of Sciences - PNAS, 2002-10, Vol.99 (20), p.13067-13072

2002

Volltextzugriff (PDF)

Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy

American journal of human genetics, 2005-07, Vol.77 (1), p.54-63

2005

Volltextzugriff (PDF)

Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene

Klinische Monatsblatter fur Augenheilkunde, 2016-04, Vol.233 (4), p.475

2016

Volltextzugriff (PDF)

Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis

Klinische Monatsblatter fur Augenheilkunde, 2014-04, Vol.231 (4), p.405

2014

Volltextzugriff (PDF)

Ultrastructural and Molecular Analysis of Bowman's Layer Corneal Dystrophies: An Epithelial Origin?

Investigative ophthalmology & visual science, 2000-10, Vol.41 (11), p.3286-3292

2000

Volltextzugriff (PDF)

Keratoepithelin in secondary corneal amyloidosis

Graefe's archive for clinical and experimental ophthalmology, 2006-06, Vol.244 (6), p.725-731

2006

Volltextzugriff (PDF)

Evidence of Somatic and Germinal Mosaicism in Pseudo–Low-Penetrant Hereditary Retinoblastoma, by Constitutional and Single-Sperm Mutation Analysis

American journal of human genetics, 1998-12, Vol.63 (6), p.1903-1907

1998

Volltextzugriff (PDF)

Gene Localization for Aculeiform Cataract, on Chromosome 2q33-35

American journal of human genetics, 1998-09, Vol.63 (3), p.921-926

1998

Volltextzugriff (PDF)

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy

British journal of ophthalmology, 2007-08, Vol.91 (8), p.1083-1084

2007

Volltextzugriff (PDF)

Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35

American journal of human genetics, 2000-11, Vol.67 (5), p.1309-1313

2000

Volltextzugriff (PDF)

Idiopathic cyclitic retrolental membrane in children

Klinische Monatsblätter für Augenheilkunde, 2005-03, Vol.222 (3), p.271-274

2005

Volltextzugriff (PDF)

A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22

American journal of human genetics, 2001-03, Vol.68 (3), p.772-777

2001

Volltextzugriff (PDF)

Mutation in the Human Homeobox Gene NKX5-3 Causes an Oculo-Auricular Syndrome

American journal of human genetics, 2008-05, Vol.82 (5), p.1178-1184

2008

Volltextzugriff (PDF)

Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA)

Klinische Monatsblätter für Augenheilkunde, 2007-04, Vol.224 (4), p.340-343

2007

Volltextzugriff (PDF)

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

Human mutation, 2001-03, Vol.17 (3), p.235-235

2001

Volltextzugriff (PDF)

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35

Human genetics, 2003-05, Vol.112 (5-6), p.593-599

2003

Volltextzugriff (PDF)

1 – 25 von 109

Suche als RSS-Feed

Aktive Filter

ThemaFemale

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(103)
Mit Volltextzugriff
(82)

Publikationsform

Artikel
(109)

Sprache

Erscheinungsjahr

n.n

Thema

14 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

Genotype–phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism

The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer

Genetic Heterogeneity of the Coppock-like Cataract: A Mutation in CRYBB2 on Chromosome 22q11.2

Allelic Variation in the VMD2 Gene in Best Disease and Age-Related Macular Degeneration

Unilateral macular oedema in Zermatt and Stargardt macular dystrophies

A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract

Potential blindness in children of patients with hereditary bone disease

Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation

Aberrant Accumulation of EFEMP1 Underlies Drusen Formation in Malattia Leventinese and Age-Related Macular Degeneration

Mutations in PIP5K3 Are Associated with François-Neetens Mouchetée Fleck Corneal Dystrophy

Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene

Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis

Ultrastructural and Molecular Analysis of Bowman's Layer Corneal Dystrophies: An Epithelial Origin?

Keratoepithelin in secondary corneal amyloidosis

Evidence of Somatic and Germinal Mosaicism in Pseudo–Low-Penetrant Hereditary Retinoblastoma, by Constitutional and Single-Sperm Mutation Analysis

Gene Localization for Aculeiform Cataract, on Chromosome 2q33-35

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy

Genetic Linkage of Bietti Crystallin Corneoretinal Dystrophy to Chromosome 4q35

Idiopathic cyclitic retrolental membrane in children

A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22

Mutation in the Human Homeobox Gene NKX5-3 Causes an Oculo-Auricular Syndrome

Patient with Fanconi Syndrome (FS) and retinitis pigmentosa (RP) caused by a deletion and duplication of mitochondrial DNA (mtDNA)

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35

Aktive Filter

Suchergebnisse filtern