UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 55

Sortiert nach

Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion

Nucleic acids research, 2017-05, Vol.45 (8), p.4619

2017

Link zum Volltext

Verfügbarkeit prüfen

Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma

Human mutation, 2016-09, Vol.37 (9), p.942-954

2016

Link zum Volltext

Verfügbarkeit prüfen

BIOLOGY OF MAMMALIAN L1 RETROTRANSPOSONS

Annual review of genetics, 2001-01, Vol.35 (1), p.501-538

2001

Link zum Volltext

Verfügbarkeit prüfen

25 Years of Human Mutation

Human mutation, 2016-06, Vol.37 (6), p.503-504

2016

Link zum Volltext

Verfügbarkeit prüfen

In vitro screening for compounds that enhance human L1 mobilization

PloS one, 2013-09, Vol.8 (9), p.e74629

2013

Link zum Volltext

Verfügbarkeit prüfen

In Memoriam: Richard G.H. Cotton (1940-2015)

Human mutation, 2015-08, Vol.36 (8), p.741-742

2015

Link zum Volltext

Verfügbarkeit prüfen

Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion

Human molecular genetics, 2010-05, Vol.19 (9), p.1712-1725

2010

Link zum Volltext

Verfügbarkeit prüfen

A mouse model of human L1 retrotransposition

Nature genetics, 2002-12, Vol.32 (4), p.655-660

2002

Link zum Volltext

Verfügbarkeit prüfen

Reading LINEs within the cocaine addicted brain

Brain and behavior, 2017-05, Vol.7 (5), p.e00678-n/a

2017

Link zum Volltext

Verfügbarkeit prüfen

An estimated frequency of endogenous insertional mutations in humans

Nature genetics, 1999-06, Vol.22 (2), p.130-130

Kazazian, Haig H

1999

Link zum Volltext

Verfügbarkeit prüfen

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

Nature (London), 1990-07, Vol.346 (6282), p.366-369

1990

Link zum Volltext

Verfügbarkeit prüfen

Rapid amplification of a retrotransposon subfamily is evolving the mouse genome

Nature genetics, 1998-11, Vol.20 (3), p.288-290

1998

Link zum Volltext

Verfügbarkeit prüfen

Toward a Human Variome Project

Human mutation, 2005-12, Vol.26 (6), p.499-499

2005

Link zum Volltext

Verfügbarkeit prüfen

Identification of Sequence Variants and Analysis of the Role of the Catechol- O-Methyl-Transferase Gene in Schizophrenia Susceptibility

Biological psychiatry (1969), 1998-03, Vol.43 (6), p.425-431

1998

Link zum Volltext

Verfügbarkeit prüfen

Human L1 retrotransposition: cis preference versus trans complementation

Molecular and cellular biology, 2001-02, Vol.21 (4), p.1429-1439

2001

Link zum Volltext

Verfügbarkeit prüfen

Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease

The New England journal of medicine, 1990-12, Vol.323 (24), p.1685-1689

1990

Link zum Volltext

Verfügbarkeit prüfen

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

Nature (London), 1987-11, Vol.330 (6146), p.384-386

1987

Link zum Volltext

Verfügbarkeit prüfen

Linkage of β -thalassaemia mutations and β -globin gene polymorphisms with DNA polymorphisms in human β -globin gene cluster

Nature (London), 1982-04, Vol.296 (5858), p.627-631

1982

Link zum Volltext

Verfügbarkeit prüfen

Abnormal RNA processing due to the exon mutation of β E -globin gene

Nature (London), 1982-12, Vol.300 (5894), p.768-769

1982

Link zum Volltext

Verfügbarkeit prüfen

Improved Detection of the Sickle Mutation by DNA Analysis: Application to Prenatal Diagnosis

The New England journal of medicine, 1982-07, Vol.307 (1), p.32-36

1982

Link zum Volltext

Verfügbarkeit prüfen

DNA polymorphism and molecular pathology of the human globin gene clusters

Human genetics, 1985, Vol.69 (1), p.1-14

1985

Link zum Volltext

Verfügbarkeit prüfen

Phylogeny of human β-globin haplotypes and its implications for recent human evolution

American journal of physical anthropology, 1990-01, Vol.81 (1), p.113-130

1990

Link zum Volltext

Verfügbarkeit prüfen

Molecular characterization of β-thalassemia in Egyptians

Human mutation, 1993, Vol.2 (1), p.48-52

1993

Link zum Volltext

Verfügbarkeit prüfen

Quantification of the close association between DNA haplotypes and specific β -thalassaemia mutations in Mediterraneans

Nature (London), 1984-07, Vol.310 (5973), p.152-154

1984

Link zum Volltext

Verfügbarkeit prüfen

The thalassemia syndromes : molecular basis and prenatal diagnosis in 1990

Seminars in hematology, 1990-07, Vol.27 (3), p.209-228

KAZAZIAN, H. H

1990

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 55

Suche als RSS-Feed

Aktive Filter

ThemaHemophilia A - Genetics

ThemaMutation

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(54)
Mit Volltextzugriff
(47)

Publikationsform

Artikel
(55)

Sprache

Englisch
(55)
Japanisch
(10)

Erscheinungsjahr

n.n

Thema

Humans
(52)
Science & Technology
(37)
Life Sciences & Biomedicine
(32)
Biological And Medical Sciences
(25)
Globins - Genetics
(22)
Thalassemia - Genetics
(21)
Base Sequence
(20)
Genes
(20)
Medical Sciences
(20)
Female
(16)
Diseases Of Red Blood Cells
(14)
Genetics & Heredity
(14)
Hematologic And Hematopoietic Diseases
(14)
Male
(14)
Alleles
(13)
Anemias. Hemoglobinopathies
(12)
Molecular Sequence Data
(12)
Polymerase Chain Reaction
(12)
Dna
(11)

14 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion

Somatically Acquired LINE-1 Insertions in Normal Esophagus Undergo Clonal Expansion in Esophageal Squamous Cell Carcinoma

BIOLOGY OF MAMMALIAN L1 RETROTRANSPOSONS

25 Years of Human Mutation

In vitro screening for compounds that enhance human L1 mobilization

In Memoriam: Richard G.H. Cotton (1940-2015)

Discrete subcellular partitioning of human retrotransposon RNAs despite a common mechanism of genome insertion

A mouse model of human L1 retrotransposition

Reading LINEs within the cocaine addicted brain

An estimated frequency of endogenous insertional mutations in humans

A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein

Rapid amplification of a retrotransposon subfamily is evolving the mouse genome

Toward a Human Variome Project

Identification of Sequence Variants and Analysis of the Role of the Catechol- O-Methyl-Transferase Gene in Schizophrenia Susceptibility

Human L1 retrotransposition: cis preference versus trans complementation

Two Patients with Cystic Fibrosis, Nonsense Mutations in Each Cystic Fibrosis Gene, and Mild Pulmonary Disease

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

Linkage of β -thalassaemia mutations and β -globin gene polymorphisms with DNA polymorphisms in human β -globin gene cluster

Abnormal RNA processing due to the exon mutation of β E -globin gene

Improved Detection of the Sickle Mutation by DNA Analysis: Application to Prenatal Diagnosis

DNA polymorphism and molecular pathology of the human globin gene clusters

Phylogeny of human β-globin haplotypes and its implications for recent human evolution

Molecular characterization of β-thalassemia in Egyptians

Quantification of the close association between DNA haplotypes and specific β -thalassaemia mutations in Mediterraneans

The thalassemia syndromes : molecular basis and prenatal diagnosis in 1990

Aktive Filter

Suchergebnisse filtern