UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 520

Sortiert nach

The Treacher Collins Syndrome (TCOF1) Gene Product, Treacle, is Targeted to the Nucleolus by Signals in Its C-Terminus

Human molecular genetics, 1998-11, Vol.7 (12), p.1947-1952

1998

Link zum Volltext

Verfügbarkeit prüfen

A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

American journal of human genetics, 2007-10, Vol.81 (4), p.673-683

2007

Link zum Volltext

Verfügbarkeit prüfen

Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1

Human molecular genetics, 1997-05, Vol.6 (5), p.727-737

1997

Link zum Volltext

Verfügbarkeit prüfen

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

Human molecular genetics, 1995-11, Vol.4 (11), p.2175-2177

1995

Link zum Volltext

Verfügbarkeit prüfen

Mutations in ANKH Cause Chondrocalcinosis

American journal of human genetics, 2002-10, Vol.71 (4), p.933-940

2002

Link zum Volltext

Verfügbarkeit prüfen

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Cell, 1994-07, Vol.78 (2), p.335-342

1994

Link zum Volltext

Verfügbarkeit prüfen

Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

American journal of human genetics, 2001-06, Vol.68 (6), p.1321-1326

2001

Link zum Volltext

Verfügbarkeit prüfen

Assessing quality of life for adolescents in Taiwan

Psychiatry and clinical neurosciences, 2005-02, Vol.59 (1), p.11-18

2005

Link zum Volltext

Verfügbarkeit prüfen

Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)

American journal of human genetics, 1993-10, Vol.53 (4), p.836-843

1993

Link zum Volltext

Verfügbarkeit prüfen

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

Nature genetics, 1995-03, Vol.9 (3), p.321-328

1995

Link zum Volltext

Verfügbarkeit prüfen

GLRB is the third major gene of effect in hyperekplexia

Human molecular genetics, 2013-06, Vol.22 (12), p.2552-2552

2013

Link zum Volltext

Verfügbarkeit prüfen

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Cell, 1993-03, Vol.72 (6), p.971-983

1993

Link zum Volltext

Verfügbarkeit prüfen

Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression

DNA and cell biology, 2008-11, Vol.27 (11), p.589

2008

Link zum Volltext

Verfügbarkeit prüfen

Mutations in the α 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

Nature genetics, 1993-12, Vol.5 (4), p.351-358

1993

Link zum Volltext

Verfügbarkeit prüfen

Hyperekplexia-like syndromes without mutations in the GLRA1 gene

Clinical neurology and neurosurgery, 1997-08, Vol.99 (3), p.172-178

1997

Link zum Volltext

Verfügbarkeit prüfen

Process Chemistry Related to the Experimental Rice Herbicide 2,2-Dimethyl-1-(4-methylthio-5-pyrimidinyl)indane

Organic process research & development, 2000-07, Vol.4 (4), p.275-285

2000

Link zum Volltext

Verfügbarkeit prüfen

Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q

American journal of human genetics, 1992-12, Vol.51 (6), p.1334-1343

1992

Link zum Volltext

Verfügbarkeit prüfen

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene

Journal of medical genetics, 1989-11, Vol.26 (11), p.676-681

1989

Link zum Volltext

Verfügbarkeit prüfen

Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma

Biochemical and biophysical research communications, 2004-12, Vol.325 (1), p.124-132

2004

Link zum Volltext

Verfügbarkeit prüfen

A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouse

Nature genetics, 1994-06, Vol.7 (2), p.131-135

1994

Link zum Volltext

Verfügbarkeit prüfen

Mutational analysis of familial and sporadic hyperekplexia

Annals of neurology, 1995-07, Vol.38 (1), p.85-91

1995

Link zum Volltext

Verfügbarkeit prüfen

The CEPH Consortium Linkage Map of Human Chromosome 13

Genomics (San Diego, Calif.), 1993-05, Vol.16 (2), p.486-496

1993

Link zum Volltext

Verfügbarkeit prüfen

Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines

The Cleft palate-craniofacial journal, 1997-01, Vol.34 (1), p.1

1997

Link zum Volltext

Verfügbarkeit prüfen

Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease

Mammalian genome, 2006-02, Vol.17 (2), p.168-177

2006

Link zum Volltext

Verfügbarkeit prüfen

A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p

Genome research, 1997-08, Vol.7 (8), p.787

1997

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 520

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(442)
Mit Volltextzugriff
(462)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(391)
Life Sciences & Biomedicine
(238)
Humans
(160)
Biological And Medical Sciences
(126)
Male
(103)
Technology
(101)
Physical Sciences
(92)
Animals
(91)
Medical Sciences
(89)
Female
(81)
Engineering
(62)
Physics
(50)
Chemistry
(47)
Adult
(40)
Fundamental And Applied Biological Sciences. Psychology
(39)
Middle Aged
(39)
Exact Sciences And Technology
(35)
Biochemistry & Molecular Biology
(34)
Engineering, Electrical & Electronic
(34)
Aged
(31)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

The Treacher Collins Syndrome (TCOF1) Gene Product, Treacle, is Targeted to the Nucleolus by Signals in Its C-Terminus

A Homozygous Mutation in a Novel Zinc-Finger Protein, ERIS, Is Responsible for Wolfram Syndrome 2

Sequence Analysis, Identification of Evolutionary Conserved Motifs and Expression Analysis of Murine tcof1 Provide Further Evidence for a Potential Function for the Gene and Its Human Homologue, TCOF1

Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I

Mutations in ANKH Cause Chondrocalcinosis

Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia

Autosomal Dominant Craniometaphyseal Dysplasia Is Caused by Mutations in the Transmembrane Protein ANK

Assessing quality of life for adolescents in Taiwan

Association of transforming growth-factor alpha gene polymorphisms with nonsyndromic cleft palate only (CPO)

Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3

GLRB is the third major gene of effect in hyperekplexia

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

Regulation of the mouse Treacher Collins syndrome homolog (Tcof1) promoter through differential repression of constitutive expression

Mutations in the α 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

Hyperekplexia-like syndromes without mutations in the GLRA1 gene

Process Chemistry Related to the Experimental Rice Herbicide 2,2-Dimethyl-1-(4-methylthio-5-pyrimidinyl)indane

Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q

Non-random association between alleles detected at D4S95 and D4S98 and the Huntington's disease gene

Genomewide analysis of gene expression associated with Tcof1 in mouse neuroblastoma

A missense mutation in the gene encoding the α1 subunit of the inhibitory glycine receptor in the spasmodic mouse

Mutational analysis of familial and sporadic hyperekplexia

The CEPH Consortium Linkage Map of Human Chromosome 13

Studies of the candidate genes TGFB2, MSX1, TGFA, and TGFB3 in the etiology of cleft lip and palate in the Philippines

Reduced TCOF1 mRNA level in a rhesus macaque with Treacher Collins-like syndrome: further evidence for haploinsufficiency of treacle as the cause of disease

A high-resolution physical and transcript map of the Cri du chat region of human chromosome 5p

Suchergebnisse filtern