UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Toward understanding the genetic basis of neural tube defects

Clinical genetics, 2007-04, Vol.71 (4), p.295-310

2007

Volltextzugriff (PDF)

Contribution of VANGL2 mutations to isolated neural tube defects

Clinical genetics, 2011-07, Vol.80 (1), p.76-82

2011

Volltextzugriff (PDF)

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype

Clinical genetics, 2012-02, Vol.81 (2), p.128-141

2012

Volltextzugriff (PDF)

Expanding the mutational spectrum associated to neural tube defects: Literature revision and description of novel VANGL1 mutations

Birth defects research. A Clinical and molecular teratology, 2015-01, Vol.103 (1), p.51-61

2015

Volltextzugriff (PDF)

Identification of a New Chemically Induced Allele (Lpm1Jus) at the Loop-Tail Locus: Morphology, Histology, and Genetic Mapping

Genomics (San Diego, Calif.), 2001-03, Vol.72 (3), p.331-337

2001

Volltextzugriff (PDF)

Mutations in VANGL1 Associated with Neural-Tube Defects

The New England journal of medicine, 2007-04, Vol.356 (14), p.1432-1437

2007

Volltextzugriff (PDF)

Ltap , a mammalian homolog of Drosophila Strabismus/Van Gogh , is altered in the mouse neural tube mutant Loop-tail

Nature genetics, 2001-07, Vol.28 (3), p.251-255

2001

Volltextzugriff (PDF)

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway

Human molecular genetics, 2014-08, Vol.23 (15), p.4185-4185

2014

Volltextzugriff (PDF)

Connexin46 Mutations in Autosomal Dominant Congenital Cataract

American journal of human genetics, 1999-05, Vol.64 (5), p.1357-1364

1999

Volltextzugriff (PDF)

The Gene Responsible for Clouston Hidrotic Ectodermal Dysplasia Maps to the Pericentromeric Region of Chromosome 13q

Human molecular genetics, 1996-04, Vol.5 (4), p.543-547

1996

Volltextzugriff (PDF)

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Nature genetics, 2000-10, Vol.26 (2), p.142-144

2000

Volltextzugriff (PDF)

Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family

British journal of dermatology (1951), 2000-02, Vol.142 (2), p.248-252

2000

Volltextzugriff (PDF)

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Nature genetics, 2000-10, Vol.26 (2), p.142

2000

Volltextzugriff (PDF)

Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3

Genomics (San Diego, Calif.), 1996-12, Vol.38 (3), p.264-272

1996

Volltextzugriff (PDF)

Rescue of the neural tube defect of loop-tail mice by a BAC clone containing the Ltap gene

Genomics (San Diego, Calif.), 2003-09, Vol.82 (3), p.397-400

2003

Volltextzugriff (PDF)

Isolation and Characterization of GT335, a Novel Human Gene Conserved inEscherichia coliand Mapping to 21q22.3

Genomics (San Diego, Calif.), 1996-12, Vol.38 (3), p.264-272

1996

Volltextzugriff (PDF)

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

European journal of human genetics : EJHG, 2000-05, Vol.8 (5), p.372-380

2000

Volltextzugriff (PDF)

Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family: REFINED LOCALIZATION OF THE GENE FOR CLOUSTON SYNDROME

British journal of dermatology (1951), 2000-02, Vol.142 (2), p.248-252

2000

Volltextzugriff (PDF)

A Radiation Hybrid Map of 48 Loci Including the Clouston Hidrotic Ectodermal Dysplasia Locus in the Pericentromeric Region of Chromosome 13q

Genomics (San Diego, Calif.), 1999-02, Vol.56 (1), p.127-130

1999

Volltextzugriff (PDF)

Refined localization of the gene for Clouston syndrome hidrotic ectodermal dsplasia) in a large French family

British journal of dermatology (1951), 2000 (142), p.248-252

2000

Volltextzugriff (PDF)

A 1.5-Mb Physical Map of the Hidrotic Ectodermal Dysplasia (Clouston Syndrome) Gene Region on Human Chromosome 13q11

Genomics (San Diego, Calif.), 2000-07, Vol.67 (2), p.232-236

2000

Volltextzugriff (PDF)

Transcription mapping and expression analysis of candidate genes in the vicinity of the mouse Loop-tail mutation

Mammalian genome, 2000-08, Vol.11 (8), p.633-638

2000

Volltextzugriff (PDF)

Mutations in GJB6 cause hidrotic ectodermal displasia

Nature genetics, 2000 (26), p.142-4

2000

Volltextzugriff (PDF)

Genomic structure of the human GT334 ( EHOC-1) gene mapping to 21q22.3

Gene, 1997-10, Vol.198 (1), p.313-321

1997

Volltextzugriff (PDF)

Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait

American journal of human genetics, 1997-03, Vol.60 (3), p.625-629

1997

Volltextzugriff (PDF)

1 – 25 von 59

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(56)
Mit Volltextzugriff
(47)

Publikationsform

Artikel
(58)
Buchkapitel
(1)

Sprache

Englisch
(59)

Erscheinungsjahr

n.n

Thema

Science & Technology
(48)
Life Sciences & Biomedicine
(44)
Humans
(37)
Biological And Medical Sciences
(26)
Male
(24)
Female
(22)
Medical Sciences
(21)
Genetics & Heredity
(18)
Adult
(10)
Child
(10)
Radiology, Nuclear Medicine & Medical Imaging
(10)
Radionuclide Imaging
(10)
Fundamental And Applied Biological Sciences. Psychology
(9)
Neural Tube Defects - Genetics
(8)
Radiopharmaceuticals
(8)
Adolescent
(7)
Amino Acid Sequence
(7)
Animals
(7)
Biotechnology & Applied Microbiology
(7)
Genetics
(7)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Toward understanding the genetic basis of neural tube defects

Contribution of VANGL2 mutations to isolated neural tube defects

Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype

Expanding the mutational spectrum associated to neural tube defects: Literature revision and description of novel VANGL1 mutations

Identification of a New Chemically Induced Allele (Lpm1Jus) at the Loop-Tail Locus: Morphology, Histology, and Genetic Mapping

Mutations in VANGL1 Associated with Neural-Tube Defects

Ltap , a mammalian homolog of Drosophila Strabismus/Van Gogh , is altered in the mouse neural tube mutant Loop-tail

Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway

Connexin46 Mutations in Autosomal Dominant Congenital Cataract

The Gene Responsible for Clouston Hidrotic Ectodermal Dysplasia Maps to the Pericentromeric Region of Chromosome 13q

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family

Mutations in GJB6 cause hidrotic ectodermal dysplasia

Isolation and characterization of GT335, a novel human gene conserved in Escherichia coli and mapping to 21q22.3

Rescue of the neural tube defect of loop-tail mice by a BAC clone containing the Ltap gene

Isolation and Characterization of GT335, a Novel Human Gene Conserved inEscherichia coliand Mapping to 21q22.3

Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping

Refined localization of the gene for Clouston syndrome (hidrotic ectodermal dysplasia) in a large French family: REFINED LOCALIZATION OF THE GENE FOR CLOUSTON SYNDROME

A Radiation Hybrid Map of 48 Loci Including the Clouston Hidrotic Ectodermal Dysplasia Locus in the Pericentromeric Region of Chromosome 13q

Refined localization of the gene for Clouston syndrome hidrotic ectodermal dsplasia) in a large French family

A 1.5-Mb Physical Map of the Hidrotic Ectodermal Dysplasia (Clouston Syndrome) Gene Region on Human Chromosome 13q11

Transcription mapping and expression analysis of candidate genes in the vicinity of the mouse Loop-tail mutation

Mutations in GJB6 cause hidrotic ectodermal displasia

Genomic structure of the human GT334 ( EHOC-1) gene mapping to 21q22.3

Hereditary spastic paraplegia: LOD-score considerations for confirmation of linkage in a heterogeneous trait

Suchergebnisse filtern