UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 53

Sortiert nach

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Nature genetics, 1996-12, Vol.14 (4), p.461-464

1996

Link zum Volltext

Verfügbarkeit prüfen

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

Archives of disease in childhood, 2006-02, Vol.91 (2), p.178-182

2006

Link zum Volltext

Verfügbarkeit prüfen

P70 Le syndrome de Wolfram

Diabetes & metabolism, 2009, Vol.35, p.A44-A45

2009

Link zum Volltext

Verfügbarkeit prüfen

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Nature genetics, 2005-10, Vol.37 (10), p.1135-1140

2005

Link zum Volltext

Verfügbarkeit prüfen

Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia

Journal of neurology, neurosurgery and psychiatry, 2007-06, Vol.78 (6), p.656-657

2007

Link zum Volltext

Verfügbarkeit prüfen

ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

American journal of human genetics, 2004-11, Vol.75 (5), p.801-806

2004

Link zum Volltext

Verfügbarkeit prüfen

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Proceedings of the National Academy of Sciences - PNAS, 2009-08, Vol.106 (33), p.13921-13926

2009

Link zum Volltext

Verfügbarkeit prüfen

Retinal Dehydrogenase 12 ( RDH12) Mutations in Leber Congenital Amaurosis

American journal of human genetics, 2004-10, Vol.75 (4), p.639-646

2004

Link zum Volltext

Verfügbarkeit prüfen

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1

Human molecular genetics, 2009-08, Vol.18 (15), p.2768-2778

2009

Link zum Volltext

Verfügbarkeit prüfen

Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study

Investigative ophthalmology & visual science, 2002-09, Vol.43 (9), p.3067-3074

2002

Link zum Volltext

Verfügbarkeit prüfen

Natural history study of visual function in patients with BBS1 and BBS10-related Bardet-Biedl syndrome

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2020, Vol.61 (7)

2020

Link zum Volltext

Verfügbarkeit prüfen

Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p

Human molecular genetics, 1993-07, Vol.2 (7), p.1081-1081

1993

Link zum Volltext

Verfügbarkeit prüfen

A gene for Stargardt's disease ( fundus flavimaculatus ) maps to the short arm of chromosome 1

Nature genetics, 1993-11, Vol.5 (3), p.308-311

1993

Link zum Volltext

Verfügbarkeit prüfen

Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus

Human molecular genetics, 1993-12, Vol.2 (12), p.2201-2201

1993

Link zum Volltext

Verfügbarkeit prüfen

Erratum: Corrigendum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Nature genetics, 2005-12, Vol.37 (12), p.1381-1381

2005

Link zum Volltext

Verfügbarkeit prüfen

Corrigendum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Nature genetics, 2005-12, Vol.37 (12), p.1381-1381

2005

Link zum Volltext

Verfügbarkeit prüfen

A gene for Leber's congenital amaurosis maps to chromosome 17p

Human molecular genetics, 1995-08, Vol.4 (8), p.1447-1452

1995

Link zum Volltext

Verfügbarkeit prüfen

Long-term results of trabeculectomy for congenital glaucoma

Journal of pediatric ophthalmology and strabismus, 1998-07, Vol.35 (4), p.198

1998

Link zum Volltext

Verfügbarkeit prüfen

Dinucleotide repeat polymorphism at the human recoverin RCVI gene losus on chromosome 17p

Human molecular genetics, 1993, Vol.2 (7)

1993

Link zum Volltext

Verfügbarkeit prüfen

Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood

Archives of ophthalmology (1960), 2000-10, Vol.118 (10), p.1386

2000

Link zum Volltext

Verfügbarkeit prüfen

Elastic splints for patients with paralysis of the lower extremities

Archives of physical medicine and rehabilitation, 1955-09, Vol.36 (9), p.564-566

1955

Link zum Volltext

Verfügbarkeit prüfen

Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia

Journal of neurology, neurosurgery, and psychiatry, 2007, Vol.78 (6), p.656-657

2007

Link zum Volltext

Verfügbarkeit prüfen

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene

Archives of ophthalmology (1960), 1995-04, Vol.113 (4), p.451

1995

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 53

Suche als RSS-Feed

Aktive Filter

Zeitschrift / SerieAmerican Journal Of Medical Genetics

KollektionSingle Journals

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(50)
Mit Volltextzugriff
(40)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(41)
Humans
(38)
Life Sciences & Biomedicine
(38)
Biological And Medical Sciences
(30)
Female
(25)
Medical Sciences
(25)
Male
(21)
Adult
(15)
Genetics & Heredity
(14)
Infant, Newborn
(10)
Infectious Diseases
(10)
Child
(9)
Hiv Infections - Transmission
(9)
Mutation
(9)
Pedigree
(9)
Pregnancy
(9)
Fundamental And Applied Biological Sciences. Psychology
(8)
Genetics Of Eukaryotes. Biological And Molecular Evolution
(8)
Human Viral Diseases
(8)
Immunology
(8)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

P70 Le syndrome de Wolfram

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia

ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Retinal Dehydrogenase 12 ( RDH12) Mutations in Leber Congenital Amaurosis

Unravelling the genetic basis of variable clinical expression in neurofibromatosis 1

Antenatal Presentation of Bardet-Biedl Syndrome May Mimic Meckel Syndrome

Retinal Hemangioblastoma in von Hippel-Lindau Disease: A Clinical and Molecular Study

Natural history study of visual function in patients with BBS1 and BBS10-related Bardet-Biedl syndrome

Dinucleotide repeat polymorphism at the human recoverin RCVI gene locus on chromosome 17p

A gene for Stargardt's disease ( fundus flavimaculatus ) maps to the short arm of chromosome 1

Dinucleotide repeat polymorphism at the human protein C inhibitor (PCI) locus

Erratum: Corrigendum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

Corrigendum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

A gene for Leber's congenital amaurosis maps to chromosome 17p

Long-term results of trabeculectomy for congenital glaucoma

Dinucleotide repeat polymorphism at the human recoverin RCVI gene losus on chromosome 17p

Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood

Elastic splints for patients with paralysis of the lower extremities

Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene

Effectiveness of antipsychotic drugs in first-episode schizophrenia and schizophreniform disorder: an open randomised clinical trial

Aktive Filter

Suchergebnisse filtern