UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 239

Sortiert nach

Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis

Journal of the European Academy of Dermatology and Venereology, 2022-04, Vol.36 (4), p.582-591

2022

Volltextzugriff (PDF)

CEDNIK syndrome results from loss-of-function mutations in SNAP29

British journal of dermatology (1951), 2011-03, Vol.164 (3), p.610-616

2011

Volltextzugriff (PDF)

The importance of genetic susceptibility in Dupuytren's disease

Clinical genetics, 2015-05, Vol.87 (5), p.483-487

2015

Volltextzugriff (PDF)

Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations

British journal of dermatology (1951), 2017-04, Vol.176 (4), p.1068-1073

2017

Volltextzugriff (PDF)

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

Clinical genetics, 2008-06, Vol.73 (6), p.566-572

2008

Volltextzugriff (PDF)

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis

Nature genetics, 2000-06, Vol.25 (2), p.213-216

2000

Volltextzugriff (PDF)

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss‐of‐function mutation in CSTA

British journal of dermatology (1951), 2015-06, Vol.172 (6), p.1628-1632

2015

Volltextzugriff (PDF)

Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene

British journal of dermatology (1951), 2013-06, Vol.168 (6), p.1372-1374

2013

Volltextzugriff (PDF)

HID and KID syndromes are associated with the same connexin 26 mutation

British journal of dermatology (1951), 2002-06, Vol.146 (6), p.938-942

2002

Volltextzugriff (PDF)

Towards characterization of palmoplantar keratoderma caused by gain‐of‐function mutation in loricrin: analysis of a family and review of the literature

British journal of dermatology (1951), 2006-01, Vol.154 (1), p.167-171

2006

Volltextzugriff (PDF)

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

Journal of medical genetics, 2006-05, Vol.43 (5), p.e22-e22

2006

Volltextzugriff (PDF)

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

Journal of medical genetics, 2005-05, Vol.42 (5), p.408-415

2005

Volltextzugriff (PDF)

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

American journal of human genetics, 2002-11, Vol.71 (5), p.1161-1167

2002

Volltextzugriff (PDF)

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3

Journal of medical genetics, 2003-07, Vol.40 (7), p.515-519

2003

Volltextzugriff (PDF)

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)

Nature genetics, 1994-02, Vol.6 (2), p.174-179

1994

Volltextzugriff (PDF)

Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques

Cytogenetic and genome research, 2003-01, Vol.103 (1-2), p.28-33

2003

Volltextzugriff (PDF)

A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3

Clinical genetics, 2007-03, Vol.71 (3), p.212-219

2007

Volltextzugriff (PDF)

Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis

Clinical and experimental dermatology, 2008-09, Vol.33 (5), p.578-581

2008

Volltextzugriff (PDF)

Increased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III

American journal of human genetics, 2006-12, Vol.79 (6), p.1098-1104

2006

Volltextzugriff (PDF)

SPINK1 mutations in chronic pancreatitis

Gastroenterology (New York, N.Y. 1943), 2001-03, Vol.120 (4), p.1060-1061

2001

Volltextzugriff (PDF)

De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes

Journal of medical genetics, 2001-09, Vol.38 (9), p.617-621

2001

Volltextzugriff (PDF)

Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36

Journal of medical genetics, 2004-03, Vol.41 (3), p.213-218

2004

Volltextzugriff (PDF)

Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis

American journal of human genetics, 1998-05, Vol.62 (5), p.1052-1061

1998

Volltextzugriff (PDF)

Inhibition of spinal noradrenaline uptake in rats by the centrally acting analgesic tramadol

Biochemical pharmacology, 1994-06, Vol.47 (12), p.2289-2293

1994

Volltextzugriff (PDF)

Vestibular dysfunction of patients with mutations of Connexin 26

Neuroreport, 2005-08, Vol.16 (11), p.1179-1181

2005

Volltextzugriff (PDF)

1 – 25 von 239

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(164)
Mit Volltextzugriff
(212)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(134)
Life Sciences & Biomedicine
(116)
Humans
(98)
Male
(73)
Biological And Medical Sciences
(67)
Female
(59)
Medical Sciences
(58)
Genetics & Heredity
(41)
Dermatology
(38)
Pedigree
(36)
Mutation
(35)
Adult
(27)
Animals
(23)
Child
(20)
Physical Sciences
(20)
Chromosome Mapping
(19)
Fundamental And Applied Biological Sciences. Psychology
(17)
Middle Aged
(17)
Dyskeratosis
(16)
Lod Score
(16)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Quality of life and clinical characteristics of self‐improving congenital ichthyosis within the disease spectrum of autosomal‐recessive congenital ichthyosis

CEDNIK syndrome results from loss-of-function mutations in SNAP29

The importance of genetic susceptibility in Dupuytren's disease

Morphological alterations in two siblings with autosomal recessive congenital ichthyosis associated with CYP4F22 mutations

Dyschromatosis universalis hereditaria: evidence for autosomal recessive inheritance and identification of a new locus on chromosome 12q21-q23

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis

Epidermal barrier abnormalities in exfoliative ichthyosis with a novel homozygous loss‐of‐function mutation in CSTA

Haplotype analysis in western European patients with mal de Meleda: founder effect for the W15R mutation in the SLURP1 gene

HID and KID syndromes are associated with the same connexin 26 mutation

Towards characterization of palmoplantar keratoderma caused by gain‐of‐function mutation in loricrin: analysis of a family and review of the literature

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter

A Gene Mutated in Nephronophthisis and Retinitis Pigmentosa Encodes a Novel Protein, Nephroretinin, Conserved in Evolution

A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)

Characterization of the first supernumerary tricentric ring chromosome 1 mosaicism by conventional and molecular cytogenetic techniques

A new locus for autosomal recessive non-syndromic mental retardation maps to 1p21.1-p13.3

Effective treatment of severe thermodysregulation by oral retinoids in a patient with recessive congenital lamellar ichthyosis

Increased Activity of Coagulation Factor XII (Hageman Factor) Causes Hereditary Angioedema Type III

SPINK1 mutations in chronic pancreatitis

De novo terminal deletion of chromosome 15q26.1 characterised by comparative genomic hybridisation and FISH with locus specific probes

Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36

Genotype/Phenotype Correlation in Autosomal Recessive Lamellar Ichthyosis

Inhibition of spinal noradrenaline uptake in rats by the centrally acting analgesic tramadol

Vestibular dysfunction of patients with mutations of Connexin 26

Suchergebnisse filtern