UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 79

Sortiert nach

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene

Human mutation, 2003-11, Vol.22 (5), p.395-403

2003

Volltextzugriff (PDF)

Familial tauopathy with P364S MAPT mutation: clinical course, neuropathology and ultrastructure of neuronal tau inclusions

Neuropathology and applied neurobiology, 2018-10, Vol.44 (6), p.550-562

2018

Volltextzugriff (PDF)

Polymorphisms in multidrug resistance 1 ( gene are associated with refractory Crohn disease and ulcerative colitis

Genes and immunity, 2004-11, Vol.5 (7), p.530-539

2004

Volltextzugriff (PDF)

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene : a cystic fibrosis mutation of slavic origin common in Central and East Europe

Human genetics, 2000-03, Vol.106 (3), p.259-268

2000

Volltextzugriff (PDF)

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria

Kidney international, 2007-06, Vol.71 (12), p.1287-1295

2007

Volltextzugriff (PDF)

Pattern electroretinography of larger stimulus field size and spectral-domain optical coherence tomography in patients with Stargardt disease

British journal of ophthalmology, 2009-12, Vol.93 (12), p.1600-1605

2009

Volltextzugriff (PDF)

De novo P102L mutation in a patient with Gerstmann-Sträussler-Scheinker disease

European journal of neurology, 2011-12, Vol.18 (12), p.e152-e153

2011

Volltextzugriff (PDF)

DNA microarrays and their use in dermatology

Acta dermatovenerologica Alpina, Panonica, et Adriatica, 2007-03, Vol.16 (1), p.7-12

2007

Volltextzugriff (PDF)

MicroRNA miR-1 is up-regulated in remote myocardium in patients with myocardial infarction

Folia biologica, 2010, Vol.56 (1), p.27-31

2010

Volltextzugriff (PDF)

Naturally occurring mutations and functional polymorphisms in multidrug resistance 1 gene: correlation with microsatellite instability and lymphoid infiltration in colorectal cancers

Journal of medical genetics, 2002-05, Vol.39 (5), p.340-346

2002

Volltextzugriff (PDF)

De novo P102L mutation in a patient with Gerstmann-Sträussler-Scheinker disease: Letter to the Editor

European journal of neurology, 2011-12, Vol.18 (12), p.e152-e153

2011

Volltextzugriff (PDF)

Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population

Journal of medical genetics, 2000-07, Vol.37 (7), p.533-536

2000

Volltextzugriff (PDF)

Importance of microRNAs in skin morphogenesis and diseases

Acta dermatovenerologica Alpina, Panonica, et Adriatica, 2008-09, Vol.17 (3), p.95

2008

Volltextzugriff (PDF)

Genetics and clinical characteristics of keratoconus

Acta dermatovenerologica Alpina, Panonica, et Adriatica, 2010-01, Vol.19 (2), p.3-10

2010

Volltextzugriff (PDF)

Animal model in the study of colorectal carcinogenesis

Pflügers Archiv, 2000, Vol.440 (5 Suppl), p.R55-R057

2000

Volltextzugriff (PDF)

DHPLC screening of cystic fibrosis gene mutations

Human mutation, 2002-04, Vol.19 (4), p.374-383

2002

Volltextzugriff (PDF)

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene

Human molecular genetics, 1994-05, Vol.3 (5), p.801-807

1994

Volltextzugriff (PDF)

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations

Human mutation, 1993, Vol.2 (5), p.404-414

1993

Volltextzugriff (PDF)

VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation

Cancer research (Chicago, Ill.), 2000-04, Vol.60 (7), p.1942-1948

2000

Volltextzugriff (PDF)

De novo P102L mutation in a patient with Gerstmann-Straeussler-Scheinker disease

European journal of neurology, 2011-12, Vol.18 (12), p.e152-e153

2011

Volltextzugriff (PDF)

Correlation of MFOLD-predicted DNA secondary structures with separation patterns obtained by capillary electrophoresis single-strand conformation polymorphism (CE-SSCP) analysis

Human mutation, 2002-04, Vol.19 (4), p.384-394

2002

Volltextzugriff (PDF)

Identification of novel genes with somatic frameshift mutations within coding mononucleotide repeats in colorectal tumors with high microsatellite instability

Genes chromosomes & cancer, 2003-01, Vol.36 (1), p.48-56

2003

Volltextzugriff (PDF)

PREVALENCE, MORPHOLOGY AND BIOLOGY OF RENAL CELL CARCINOMA IN VON HIPPEL-LINDAU DISEASE COMPARED TO SPORADIC RENAL CELL CARCINOMA

The Journal of urology, 1998-10, Vol.160 (4), p.1248-1254

1998

Volltextzugriff (PDF)

Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database

Mammalian genome, 1995-02, Vol.6 (2), p.114-117

1995

Volltextzugriff (PDF)

1 – 25 von 79

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(65)
Mit Volltextzugriff
(75)

Publikationsform

Sprache

1 weiteren anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

Humans
(54)
Life Sciences & Biomedicine
(45)
Science & Technology
(45)
Genetics & Heredity
(28)
Male
(28)
Female
(26)
Mutation
(21)
Biological And Medical Sciences
(19)
Medical Sciences
(18)
Base Sequence
(17)
Adult
(15)
Molecular Sequence Data
(15)
Polymorphism, Genetic
(14)
Cystic Fibrosis - Genetics
(11)
Middle Aged
(11)
Polymerase Chain Reaction
(11)
Aged
(10)
Cystic Fibrosis
(10)
Cystic Fibrosis Transmembrane Conductance Regulator - Genetics
(10)
Dna Mutational Analysis
(9)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene

Familial tauopathy with P364S MAPT mutation: clinical course, neuropathology and ultrastructure of neuronal tau inclusions

Polymorphisms in multidrug resistance 1 ( gene are associated with refractory Crohn disease and ulcerative colitis

Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene : a cystic fibrosis mutation of slavic origin common in Central and East Europe

Sixteen novel mutations identified in COL4A3, COL4A4, and COL4A5 genes in Slovenian families with Alport syndrome and benign familial hematuria

Pattern electroretinography of larger stimulus field size and spectral-domain optical coherence tomography in patients with Stargardt disease

De novo P102L mutation in a patient with Gerstmann-Sträussler-Scheinker disease

DNA microarrays and their use in dermatology

MicroRNA miR-1 is up-regulated in remote myocardium in patients with myocardial infarction

Naturally occurring mutations and functional polymorphisms in multidrug resistance 1 gene: correlation with microsatellite instability and lymphoid infiltration in colorectal cancers

De novo P102L mutation in a patient with Gerstmann-Sträussler-Scheinker disease: Letter to the Editor

Incidence of germline hMLH1 and hMSH2 mutations (HNPCC patients) among newly diagnosed colorectal cancers in a Slovenian population

Importance of microRNAs in skin morphogenesis and diseases

Genetics and clinical characteristics of keratoconus

Animal model in the study of colorectal carcinogenesis

DHPLC screening of cystic fibrosis gene mutations

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene

Optimization of the single-strand conformation polymorphism (SSCP) technique for detection of point mutations

VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation

De novo P102L mutation in a patient with Gerstmann-Straeussler-Scheinker disease

Correlation of MFOLD-predicted DNA secondary structures with separation patterns obtained by capillary electrophoresis single-strand conformation polymorphism (CE-SSCP) analysis

Dating the Origin of the CCR5-Δ 32 AIDS-Resistance Allele by the Coalescence of Haplotypes

Identification of novel genes with somatic frameshift mutations within coding mononucleotide repeats in colorectal tumors with high microsatellite instability

PREVALENCE, MORPHOLOGY AND BIOLOGY OF RENAL CELL CARCINOMA IN VON HIPPEL-LINDAU DISEASE COMPARED TO SPORADIC RENAL CELL CARCINOMA

Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database

Suchergebnisse filtern