UB Paderborn / Katalog / Suche / in CDI

1 – 21 von 21

Sortiert nach

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

Volltextzugriff (PDF)

Reading LINEs within the cocaine addicted brain

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

2017

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

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

Volltextzugriff (PDF)

Molecular etiology of factor VIII deficiency in hemophilia A

Human mutation, 1995, Vol.5 (1), p.1-22

1995

Volltextzugriff (PDF)

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

Nature (London), 1986-11, Vol.324 (6095), p.380-382

1986

Volltextzugriff (PDF)

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

The New England journal of medicine, 1985-10, Vol.313 (14), p.842

1985

Volltextzugriff (PDF)

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

1982

Volltextzugriff (PDF)

DNA polymorphism and molecular pathology of the human globin gene clusters

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

1985

Volltextzugriff (PDF)

Evolution of a Genetic Disease in an Ethnic Isolate: β-Thalassemia in the Jews of Kurdistan

Proceedings of the National Academy of Sciences - PNAS, 1991-01, Vol.88 (1), p.310-314

1991

Volltextzugriff (PDF)

Frequency and stability of the fragile X premutation

Human molecular genetics, 1994-03, Vol.3 (3), p.393-398

1994

Volltextzugriff (PDF)

The molecular basis of β thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated α‐globin loci

British journal of haematology, 1994-02, Vol.86 (2), p.372-376

1994

Volltextzugriff (PDF)

Dominant Thalassemia-like Phenotypes Associated With Mutations in Exon 3 of the β-Globin Gene

Blood, 1992-06, Vol.79 (11), p.3014-3018

1992

Volltextzugriff (PDF)

Gene Defects in β-Thalassemia and Their Prenatal Diagnosis

Annals of the New York Academy of Sciences, 1990-12, Vol.612 (1), p.1-14

1990

Volltextzugriff (PDF)

β -thalassemia in American Blacks: Novel Mutations in the ``TATA'' Box and an Acceptor Splice Site

Proceedings of the National Academy of Sciences - PNAS, 1984-02, Vol.81 (4), p.1154-1158

1984

Volltextzugriff (PDF)

Two novel β-thalassemia alleles: Poly A signal (AATAAA→AAAA) and −92 C→T

Human mutation, 1995, Vol.5 (3), p.275-276

1995

Volltextzugriff (PDF)

Severe Hemophilia A in a Female by Cryptic Translocation: Order and Orientation of Factor VIII within Xq28

Genomics (San Diego, Calif.), 1993-04, Vol.16 (1), p.20-25

1993

Volltextzugriff (PDF)

Isolation and characterization of the translation product of a β‐globin gene nonsense mutation (β121 GAA→TAA)

British journal of haematology, 1990-08, Vol.75 (4), p.561-567

1990

Volltextzugriff (PDF)

Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene

Human genetics, 1989-03, Vol.81 (4), p.335-338

1989

Volltextzugriff (PDF)

Prenatal diagnosis of hemoglobinopathies by DNA analysis

Critical reviews in oncology/hematology, 1985, Vol.4 (2), p.155-167

1985

Volltextzugriff (PDF)

Prenatal diagnosis of hemoglobinopathies--1983

Seminars in perinatology, 1983-07, Vol.7 (3), p.175

1983

Volltextzugriff (PDF)

1 – 21 von 21

Suche als RSS-Feed

Aktive Filter

ThemaFemale

ThemaMutation

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(21)
Mit Volltextzugriff
(16)

Publikationsform

Artikel
(21)

Sprache

Englisch
(21)
Japanisch
(5)

Erscheinungsjahr

n.n

Thema

Humans
(21)
Male
(16)
Science & Technology
(16)
Life Sciences & Biomedicine
(13)
Biological And Medical Sciences
(12)
Medical Sciences
(12)
Base Sequence
(9)
Hematologic And Hematopoietic Diseases
(9)
Globins - Genetics
(8)
Genes
(7)
Polymerase Chain Reaction
(7)
Alleles
(6)
Dna - Genetics
(6)
Genetics & Heredity
(6)
Molecular Sequence Data
(6)
Pedigree
(6)
Polymorphism, Genetic
(6)
Pregnancy
(6)

13 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

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

Reading LINEs within the cocaine addicted brain

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

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

Molecular etiology of factor VIII deficiency in hemophilia A

Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots

Hemophilia A. Detection of molecular defects and of carriers by DNA analysis

Improved detection of the sickle mutation by DNA analysis: application to prenatal diagnosis

DNA polymorphism and molecular pathology of the human globin gene clusters

Evolution of a Genetic Disease in an Ethnic Isolate: β-Thalassemia in the Jews of Kurdistan

Frequency and stability of the fragile X premutation

The molecular basis of β thalassaemia in Punjabi and Maharashtran Indians includes a multilocus aetiology involving triplicated α‐globin loci

Dominant Thalassemia-like Phenotypes Associated With Mutations in Exon 3 of the β-Globin Gene

Gene Defects in β-Thalassemia and Their Prenatal Diagnosis

β -thalassemia in American Blacks: Novel Mutations in the ``TATA'' Box and an Acceptor Splice Site

Two novel β-thalassemia alleles: Poly A signal (AATAAA→AAAA) and −92 C→T

Severe Hemophilia A in a Female by Cryptic Translocation: Order and Orientation of Factor VIII within Xq28

Isolation and characterization of the translation product of a β‐globin gene nonsense mutation (β121 GAA→TAA)

Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene

Prenatal diagnosis of hemoglobinopathies by DNA analysis

Prenatal diagnosis of hemoglobinopathies--1983

Aktive Filter

Suchergebnisse filtern