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...

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Nature (London), 1997-05, Vol.387 (6628), p.80-83

1997

Volltextzugriff (PDF)

Analysis of the IBD5 locus and potential gene-gene interactions in Crohn’s disease

Gut, 2003-04, Vol.52 (4), p.541-546

2003

Volltextzugriff (PDF)

Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

American journal of human genetics, 1998-08, Vol.63 (2), p.541-546

1998

Volltextzugriff (PDF)

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

Human mutation, 1998, Vol.11 (5), p.387-394

1998

Volltextzugriff (PDF)

A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34

American journal of human genetics, 2000-02, Vol.66 (2), p.724-727

2000

Volltextzugriff (PDF)

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

Journal of medical genetics, 2000-09, Vol.37 (9), p.692-694

2000

Volltextzugriff (PDF)

Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome

Human genetics, 1997-10, Vol.100 (5-6), p.497-502

1997

Volltextzugriff (PDF)

Extent and Distribution of Linkage Disequilibrium in Three Genomic Regions

American journal of human genetics, 2001-01, Vol.68 (1), p.191-197

2001

Volltextzugriff (PDF)

A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25

American journal of human genetics, 1999-02, Vol.64 (2), p.526-532

1999

Volltextzugriff (PDF)

Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations — molecular and audiological findings

International journal of pediatric otorhinolaryngology, 1999-10, Vol.50 (1), p.3-13

1999

Volltextzugriff (PDF)

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

Journal of medical genetics, 1997-12, Vol.34 (12), p.1015-1017

1997

Volltextzugriff (PDF)

A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24

American journal of human genetics, 1998-05, Vol.62 (5), p.1070-1076

1998

Volltextzugriff (PDF)

Molecular analysis for genetic counselling in amelogenesis imperfecta

Oral diseases, 2002-09, Vol.8 (5), p.249-253

2002

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)

A gene for ataxic cerebral palsy maps to chromosome 9p12-q12

European journal of human genetics : EJHG, 2000-04, Vol.8 (4), p.267-272

2000

Volltextzugriff (PDF)

The human gene encoding FKBP-rapamycin associated protein (FRAP) maps to chromosomal band 1p36.2

Human genetics, 1997-04, Vol.99 (4), p.547-549

1997

Volltextzugriff (PDF)

Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1

Journal of medical genetics, 1997-08, Vol.34 (8), p.685-687

1997

Volltextzugriff (PDF)

A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?

Journal of medical genetics, 2001-08, Vol.38 (8), p.533-536

2001

Volltextzugriff (PDF)

Vectorette PCR isolation of microsatellite repeat sequences using anchored dinucleotide repeat primers

Nucleic acids research, 1996-06, Vol.24 (11), p.2190-2191

1996

Volltextzugriff (PDF)

Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness

American journal of human genetics, 1998-05, Vol.62 (5), p.1123-1128

1998

Volltextzugriff (PDF)

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31

European journal of human genetics : EJHG, 2000-12, Vol.8 (12), p.991-993

2000

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)

Assignment of the STAT6 gene (STAT6) to human chromosome band 12q13 by in situ hybridization

Cytogenetic and genome research, 1997-01, Vol.79 (3-4), p.208-209

1997

Volltextzugriff (PDF)

An EST and STS-Based YAC Contig Map of Human Chromosome 9q22.3

Genomics (San Diego, Calif.), 1996-12, Vol.38 (2), p.199-205

1996

Volltextzugriff (PDF)

Assignment of the DNA fragmentation factor gene (DFFA) to human chromosome bands 1p36.3-->p36.2 by in situ hybridization

Cytogenetic and genome research, 1997-01, Vol.79 (3-4), p.212-213

1997

Volltextzugriff (PDF)

1 – 25 von 96

Suche als RSS-Feed

Aktive Filter

KollektionOxford Journals 2020 Medicine

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(84)
Mit Volltextzugriff
(77)

Publikationsform

Sprache

Englisch
(96)
Japanisch
(16)

Erscheinungsjahr

n.n

Thema

Humans
(74)
Science & Technology
(69)
Life Sciences & Biomedicine
(66)
Biological And Medical Sciences
(41)
Genetics & Heredity
(40)
Male
(35)
Female
(31)
Chromosome Mapping
(30)
Medical Sciences
(28)
Base Sequence
(23)
Molecular Sequence Data
(23)
Pedigree
(22)
Mutation
(16)
Polymerase Chain Reaction
(16)
Biochemistry & Molecular Biology
(13)
Fundamental And Applied Biological Sciences. Psychology
(13)
Genetic Linkage
(12)
In Situ Hybridization, Fluorescence
(11)
Animals
(10)
Genetic Markers
(10)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Analysis of the IBD5 locus and potential gene-gene interactions in Crohn’s disease

Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss

A Third Novel Locus for Primary Autosomal Recessive Microcephaly Maps to Chromosome 9q34

A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment

Characterisation of human patched germ line mutations in naevoid basal cell carcinoma syndrome

Extent and Distribution of Linkage Disequilibrium in Three Genomic Regions

A Gene for Autosomal Recessive Symmetrical Spastic Cerebral Palsy Maps to Chromosome 2q24-25

Congenital non-syndromal sensorineural hearing impairment due to connexin 26 gene mutations — molecular and audiological findings

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22

A Syndrome of Severe Mental Retardation, Spasticity, and Tapetoretinal Degeneration Linked to Chromosome 15q24

Molecular analysis for genetic counselling in amelogenesis imperfecta

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

A gene for ataxic cerebral palsy maps to chromosome 9p12-q12

The human gene encoding FKBP-rapamycin associated protein (FRAP) maps to chromosomal band 1p36.2

Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1

A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome?

Vectorette PCR isolation of microsatellite repeat sequences using anchored dinucleotide repeat primers

Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness

A new locus for autosomal recessive non-syndromal sensorineural hearing impairment (DFNB27) on chromosome 2q23-q31

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

Assignment of the STAT6 gene (STAT6) to human chromosome band 12q13 by in situ hybridization

An EST and STS-Based YAC Contig Map of Human Chromosome 9q22.3

Assignment of the DNA fragmentation factor gene (DFFA) to human chromosome bands 1p36.3-->p36.2 by in situ hybridization

Aktive Filter

Suchergebnisse filtern