UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 344

Sortiert nach

Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data

Prenatal diagnosis, 2002-07, Vol.22 (7), p.609-615

2002

Link zum Volltext

Verfügbarkeit prüfen

PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies

American journal of human genetics, 1997-10, Vol.61 (4), p.822-829

1997

Link zum Volltext

Verfügbarkeit prüfen

Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1

Human molecular genetics, 2000-07, Vol.9 (11), p.1641-1649

2000

Link zum Volltext

Verfügbarkeit prüfen

Mutation Detection of PKD1 Identifies a Novel Mutation Common to Three Families with Aneurysms and/or Very-Early-Onset Disease

American journal of human genetics, 1999-12, Vol.65 (6), p.1561-1571

1999

Link zum Volltext

Verfügbarkeit prüfen

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

Human molecular genetics, 1993-02, Vol.2 (2), p.159-163

1993

Link zum Volltext

Verfügbarkeit prüfen

Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells

Nature (London), 1990-09, Vol.347 (6291), p.358-363

1990

Link zum Volltext

Verfügbarkeit prüfen

Alternative Splicing of Exon 3 of the Human Growth Hormone Receptor is the Result of an Unusual Genetic Polymorphism

Proceedings of the National Academy of Sciences - PNAS, 1996-10, Vol.93 (22), p.12394-12399

1996

Link zum Volltext

Verfügbarkeit prüfen

High Throughput Parallel Analysis of Hundreds of Patient Samples for More Than 100 Mutations in Multiple Disease Genes

Human molecular genetics, 1997-03, Vol.6 (3), p.337-347

1997

Link zum Volltext

Verfügbarkeit prüfen

Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients

Molecular genetics and metabolism, 2012-07, Vol.106 (3), p.287-300

2012

Link zum Volltext

Verfügbarkeit prüfen

Expression and characterization of the cystic fibrosis transmembrane conductance regulator

Nature (London), 1990-09, Vol.347 (6291), p.382-386

1990

Link zum Volltext

Verfügbarkeit prüfen

A simplified procedure for developing multiplex PCRs

Genome research, 1995-12, Vol.5 (5), p.488

1995

Link zum Volltext

Verfügbarkeit prüfen

Amplification of a highly polymorphic VNTR segment by the polymerase chain reaction

Nucleic acids research, 1989-03, Vol.17 (5), p.2140-2140

1989

Link zum Volltext

Verfügbarkeit prüfen

Prenatal detection of chromosome aneuploidies in uncultured chorionic villus samples by FISH

American journal of human genetics, 1996-10, Vol.59 (4), p.918-926

1996

Link zum Volltext

Verfügbarkeit prüfen

Detection of fetal cells with 47,XY,+21 karyotype in maternal peripheral blood

Human genetics, 1992-12, Vol.90 (4), p.368-370

1992

Link zum Volltext

Verfügbarkeit prüfen

Significant fetal-maternal hemorrhage after termination of pregnancy: Implications for development of fetal cell microchimerism

American journal of obstetrics and gynecology, 2001-03, Vol.184 (4), p.703-706

2001

Link zum Volltext

Verfügbarkeit prüfen

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

The Journal of clinical investigation, 2010-04, Vol.120 (4), p.1253-1264

2010

Link zum Volltext

Verfügbarkeit prüfen

Somatic Mutation in Individual Liver Cysts Supports a Two-Hit Model of Cystogenesis in Autosomal Dominant Polycystic Kidney Disease

Molecular cell, 1998-08, Vol.2 (2), p.247-251

1998

Link zum Volltext

Verfügbarkeit prüfen

Fetal cells in maternal blood: Determination of purity and yield by quantitative polymerase chain reaction

American journal of obstetrics and gynecology, 1994-10, Vol.171 (4), p.922-926

1994

Link zum Volltext

Verfügbarkeit prüfen

Plasminogen Activator Inhibitor Type 1 Gene is Located at Region q21.3-q22 of Chromosome 7 and Genetically Linked with Cystic Fibrosis

Proceedings of the National Academy of Sciences - PNAS, 1987-12, Vol.84 (23), p.8548-8552

1987

Link zum Volltext

Verfügbarkeit prüfen

The Cloning of a Human ABC Gene (ABC3) Mapping to Chromosome 16p13.3

Genomics (San Diego, Calif.), 1997-01, Vol.39 (2), p.231-234

1997

Link zum Volltext

Verfügbarkeit prüfen

The NTN2L gene encoding a novel human netrin maps to the autosomal dominant polycystic kidney disease region on chromosome 16p13.3

Genomics (San Diego, Calif.), 1997-04, Vol.41 (2), p.279-282

1997

Link zum Volltext

Verfügbarkeit prüfen

Expression of normal and cystic fibrosis phenotypes by continuous airway epithelial cell lines

American journal of physiology. Lung cellular and molecular physiology, 1990-12, Vol.259 (6), p.496-L505

1990

Link zum Volltext

Verfügbarkeit prüfen

Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization : clinical experience with 4,500 specimens

American journal of human genetics, 1993-05, Vol.52 (5), p.854-865

1993

Link zum Volltext

Verfügbarkeit prüfen

Polycystin: In vitro Synthesis, in vivo Tissue Expression, and Subcellular Localization Identifies a Large Membrane-Associated Protein

Proceedings of the National Academy of Sciences - PNAS, 1997-06, Vol.94 (12), p.6397-6402

1997

Link zum Volltext

Verfügbarkeit prüfen

New insights into ADPKD molecular pathways using combination of SAGE and microarray technologies

Genomics (San Diego, Calif.), 2004-09, Vol.84 (3), p.497-510

2004

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 344

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(284)
Mit Volltextzugriff
(289)

Publikationsform

2 weitere anzeigen...

Weniger anzeigen...

Sprache

Englisch
(305)
Japanisch
(42)
Deutsch
(41)

Erscheinungsjahr

n.n

Thema

Science & Technology
(215)
Humans
(169)
Life Sciences & Biomedicine
(160)
Female
(96)
Biological And Medical Sciences
(90)
Male
(89)
Medical Sciences
(65)
Adult
(52)
Middle Aged
(49)
Animals
(45)
Physical Sciences
(44)
Fundamental And Applied Biological Sciences. Psychology
(38)
Genetics & Heredity
(37)
Transplantation
(32)
Aged
(30)
Physics
(26)
Molecular Sequence Data
(25)
Biochemistry & Molecular Biology
(24)
Rats
(24)
Surgery
(23)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data

PCR quantitation of fetal cells in maternal blood in normal and aneuploid pregnancies

Strong homophilic interactions of the Ig-like domains of polycystin-1, the protein product of an autosomal dominant polycystic kidney disease gene, PKD1

Mutation Detection of PKD1 Identifies a Novel Mutation Common to Three Families with Aneurysms and/or Very-Early-Onset Disease

Multiplex PCR amplification from the CFTR gene using DNA prepared from buccal brushes/swabs

Expression of cystic fibrosis transmembrane conductance regulator corrects defective chloride channel regulation in cystic fibrosis airway epithelial cells

Alternative Splicing of Exon 3 of the Human Growth Hormone Receptor is the Result of an Unusual Genetic Polymorphism

High Throughput Parallel Analysis of Hundreds of Patient Samples for More Than 100 Mutations in Multiple Disease Genes

Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients

Expression and characterization of the cystic fibrosis transmembrane conductance regulator

A simplified procedure for developing multiplex PCRs

Amplification of a highly polymorphic VNTR segment by the polymerase chain reaction

Prenatal detection of chromosome aneuploidies in uncultured chorionic villus samples by FISH

Detection of fetal cells with 47,XY,+21 karyotype in maternal peripheral blood

Significant fetal-maternal hemorrhage after termination of pregnancy: Implications for development of fetal cell microchimerism

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

Somatic Mutation in Individual Liver Cysts Supports a Two-Hit Model of Cystogenesis in Autosomal Dominant Polycystic Kidney Disease

Fetal cells in maternal blood: Determination of purity and yield by quantitative polymerase chain reaction

Plasminogen Activator Inhibitor Type 1 Gene is Located at Region q21.3-q22 of Chromosome 7 and Genetically Linked with Cystic Fibrosis

The Cloning of a Human ABC Gene (ABC3) Mapping to Chromosome 16p13.3

The NTN2L gene encoding a novel human netrin maps to the autosomal dominant polycystic kidney disease region on chromosome 16p13.3

Expression of normal and cystic fibrosis phenotypes by continuous airway epithelial cell lines

Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ hybridization : clinical experience with 4,500 specimens

Polycystin: In vitro Synthesis, in vivo Tissue Expression, and Subcellular Localization Identifies a Large Membrane-Associated Protein

New insights into ADPKD molecular pathways using combination of SAGE and microarray technologies

Suchergebnisse filtern