UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 49

Sortiert nach

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

Journal of medical genetics, 2003-06, Vol.40 (6), p.e82-82

2003

Volltextzugriff (PDF)

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

Human molecular genetics, 2000-01, Vol.9 (2), p.237-247

2000

Volltextzugriff (PDF)

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

Nature (London), 1987-04, Vol.326 (6116), p.840-845

1987

Volltextzugriff (PDF)

Fragile X syndrome and the (CGG)n mutation : two families with discordant MZ twins

American journal of human genetics, 1994-03, Vol.54 (3), p.437-442

1994

Volltextzugriff (PDF)

Confirmation of a double-hit model for the NF1 gene in benign neurofibromas

American journal of human genetics, 1997-09, Vol.61 (3), p.512-519

1997

Volltextzugriff (PDF)

First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene

Prenatal diagnosis, 2004-10, Vol.24 (10), p.787-789

2004

Volltextzugriff (PDF)

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families

Human genetics, 1994-10, Vol.94 (4), p.395-400

1994

Volltextzugriff (PDF)

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients

Human genetics, 1996-12, Vol.98 (6), p.696-699

1996

Volltextzugriff (PDF)

Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene

American journal of human genetics, 1988, Vol.42 (1), p.38-44

1988

Volltextzugriff (PDF)

MspI restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene

Nucleic acids research, 1991-04, Vol.19 (7), p.1719-1719

1991

Volltextzugriff (PDF)

Mspl restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene

Nucleic acids research, 1991-04

1991

Volltextzugriff (PDF)

A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene

American journal of human genetics, 1998-04, Vol.62 (4), p.834-841

1998

Volltextzugriff (PDF)

Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism

American journal of human genetics, 1995-11, Vol.57 (5), p.1044-1049

1995

Volltextzugriff (PDF)

Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation

Prenatal diagnosis, 1999-08, Vol.19 (8), p.739-742

1999

Volltextzugriff (PDF)

LINKAGE OF COL1A2 COLLAGEN GENE TO CYSTIC FIBROSIS, AND ITS CLINICAL IMPLICATIONS

The Lancet (British edition), 1985-11, Vol.326 (8466), p.1241-1242

1985

Volltextzugriff (PDF)

A new polymorphic locus, D7S411, isolated by cloning from preparative pulse-field gels is close to the mutation causing cystic fibrosis

Genomics (San Diego, Calif.), 1990, Vol.6 (1), p.39-47

1990

Volltextzugriff (PDF)

Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met pJ3.11

American journal of human genetics, 1986-12, Vol.39 (6), p.713-719

1986

Volltextzugriff (PDF)

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene

Genomics (San Diego, Calif.), 1991-06, Vol.10 (2), p.301-307

1991

Volltextzugriff (PDF)

A human regulatory subunit of type II cAMP-dependent protein kinase localized by its linkage relationship to several cloned chromosome 7q markers

Cytogenetics and cell genetics, 1987, Vol.45 (3-4), p.237

1987

Volltextzugriff (PDF)

Two further cases of mutation R1947X in the NF1 gene : screening for a relatively common recurrent mutation

Human genetics, 1995-09, Vol.96 (3), p.361-363

1995

Volltextzugriff (PDF)

The application of molecular genetics to the study of the basic defect causing cystic fibrosis

Progress in clinical and biological research, 1987, Vol.254, p.181

1987

Volltextzugriff (PDF)

Molecular genetics and the basic defect causing cystic fibrosis

Cold Spring Harbor Symposia on Quantitative Biology, 1986, Vol.51 Pt 1, p.309

1986

Volltextzugriff (PDF)

Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families

Prenatal diagnosis, 1994-02, Vol.14 (2), p.123-130

1994

Volltextzugriff (PDF)

Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1)

Journal of medical genetics, 1994-08, Vol.31 (8), p.654-655

1994

Volltextzugriff (PDF)

Fragile X syndrome and the (CGG)[sub n] mutation: Two families with discordant MZ twins

American journal of human genetics, 1994-03, Vol.54:3

1994

Volltextzugriff (PDF)

1 – 25 von 49

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(46)
Mit Volltextzugriff
(41)

Publikationsform

Artikel
(46)
Reviews
(3)

Sprache

Erscheinungsjahr

n.n

Thema

Humans
(29)
Science & Technology
(29)
Life Sciences & Biomedicine
(25)
Biological And Medical Sciences
(19)
Female
(19)
Male
(17)
Medical Sciences
(17)
Genetics & Heredity
(14)
Cystic Fibrosis - Genetics
(10)
Pedigree
(9)
Chromosome Mapping
(8)
Genetic Linkage
(8)
Neurology
(8)
Adult
(7)
Animals
(7)
Base Sequence
(7)
Mutation
(7)
Neurofibromatosis 1 - Genetics
(7)
Polymorphism, Restriction Fragment Length
(7)
Alleles
(6)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis type 1

A candidate for the cystic fibrosis locus isolated by selection for methylation-free islands

Fragile X syndrome and the (CGG)n mutation : two families with discordant MZ twins

Confirmation of a double-hit model for the NF1 gene in benign neurofibromas

First prenatal diagnosis for Wolfram syndrome by molecular analysis of the WFS1 gene

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families

Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients

Refined linkage map of chromosome 7 in the region of the cystic fibrosis gene

MspI restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene

Mspl restriction fragment length polymorphism near exon 10 of cystic fibrosis (CFTR) gene

A Clinical Variant of Neurofibromatosis Type 1: Familial Spinal Neurofibromatosis with a Frameshift Mutation in the NF1 Gene

Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism

Prenatal diagnosis of sporadic neurofibromatosis type 1 (NF1) by RNA and DNA analysis of a splicing mutation

LINKAGE OF COL1A2 COLLAGEN GENE TO CYSTIC FIBROSIS, AND ITS CLINICAL IMPLICATIONS

A new polymorphic locus, D7S411, isolated by cloning from preparative pulse-field gels is close to the mutation causing cystic fibrosis

Further data supporting linkage between cystic fibrosis and the met oncogene and haplotype analysis with met pJ3.11

Cloning the mouse homolog of the human cystic fibrosis transmembrane conductance regulator gene

A human regulatory subunit of type II cAMP-dependent protein kinase localized by its linkage relationship to several cloned chromosome 7q markers

Two further cases of mutation R1947X in the NF1 gene : screening for a relatively common recurrent mutation

The application of molecular genetics to the study of the basic defect causing cystic fibrosis

Molecular genetics and the basic defect causing cystic fibrosis

Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families

Chemiluminescent detection of blotted PCR products (CB-PCR) of two CAG dynamic mutations (Huntington's disease and spinocerebellar ataxia type 1)

Fragile X syndrome and the (CGG)[sub n] mutation: Two families with discordant MZ twins

Suchergebnisse filtern