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...

Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses

Current pharmaceutical biotechnology, 2011-06, Vol.12 (6), p.867-883

2011

Volltextzugriff (PDF)

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1

Neurology, 2007-01, Vol.68 (5), p.387-388

2007

Volltextzugriff (PDF)

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Human molecular genetics, 2013-04, Vol.22 (7), p.1417-1423

2013

Volltextzugriff (PDF)

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

Nature (London), 1993-06, Vol.363 (6428), p.458-460

1993

Volltextzugriff (PDF)

Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2

Human molecular genetics, 1993-03, Vol.2 (3), p.247-252

1993

Volltextzugriff (PDF)

Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses

Journal of inherited metabolic disease, 1996-01, Vol.19 (3), p.269-274

Mole, S. E.

1996

Volltextzugriff (PDF)

Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2

Human molecular genetics, 1993-03, Vol.2 (3), p.241-246

1993

Volltextzugriff (PDF)

Prenatal diagnosis of Batten's disease

The Lancet (British edition), 1996-04, Vol.347 (9007), p.1014-1015

1996

Volltextzugriff (PDF)

Rapid diagnostic test for the major mutation underlying Batten disease

Journal of medical genetics, 1996-12, Vol.33 (12), p.1041-1042

1996

Volltextzugriff (PDF)

Batten disease gene, CLN3 : linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes

American journal of human genetics, 1995-03, Vol.56 (3), p.654-662

1995

Volltextzugriff (PDF)

Assignment of the Human Pulmonary Surfactant Protein D Gene (SFTP4) to 10q22-q23 Close to the Surfactant Protein A Gene Cluster

Genomics (San Diego, Calif.), 1993-08, Vol.17 (2), p.294-298

1993

Volltextzugriff (PDF)

Genomic Structure and Complete Nucleotide Sequence of the Batten Disease Gene,CLN3

Genomics (San Diego, Calif.), 1997-03, Vol.40 (2), p.346-350

1997

Volltextzugriff (PDF)

Structure and function of SV40 large-T antigen

Philosophical transactions of the Royal Society of London. Series B, Biological sciences, 1987-12, Vol.317 (1187), p.455-469

1987

Volltextzugriff (PDF)

A murine model for juvenile NCL: gene targeting of mouse Cln3

Molecular genetics and metabolism, 1999-04, Vol.66 (4), p.309-313

1999

Volltextzugriff (PDF)

Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland

Journal of medical genetics, 1998-09, Vol.35 (9), p.790-790

1998

Volltextzugriff (PDF)

Identification of a Transactivation Motif in the CLN3 Protein

IUBMB life, 2001-05, Vol.51 (5), p.295-298

2001

Volltextzugriff (PDF)

Characterisation of a boundary between satellite III and alphoid sequences on human chromosome 10

Nucleic acids research, 1992-09, Vol.20 (18), p.4781-4787

1992

Volltextzugriff (PDF)

Epitope mapping

Molecular biotechnology, 1994-06, Vol.1 (3), p.277-287

MOLE, S. E

1994

Volltextzugriff (PDF)

Batten Disease: Four Genes and Still Counting

Neurobiology of Disease, 1998-11, Vol.5 (5), p.287-303

Mole, Sara E.

1998

Volltextzugriff (PDF)

Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5

Human mutation, 1999, Vol.14 (3), p.199-215

1999

Volltextzugriff (PDF)

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment [version 2; peer review: 2 approved]

F1000 research, 2022, Vol.10, p.614-614

2022

Volltextzugriff (PDF)

A multiple interval physical map of the pericentromeric region of human chromosome 10

Human genetics, 1994-03, Vol.93 (3), p.313-318

1994

Volltextzugriff (PDF)

Use of simian virus 40 large T-beta-galactosidase fusion proteins in an immunochemical analysis of simian virus 40 large T antigen

Journal of Virology, 1985-06, Vol.54 (3), p.703-710

1985

Volltextzugriff (PDF)

Dinucleotide repeat polymorphisms at the D10S183 and D10S245 loci

Human molecular genetics, 1992-12, Vol.1 (9), p.777-777

1992

Volltextzugriff (PDF)

Using the polymerase chain reaction to modify expression plasmids for epitope mapping

Nucleic acids research, 1989-04, Vol.17 (8), p.3319-3319

1989

Volltextzugriff (PDF)

1 – 25 von 619

Suche als RSS-Feed

Aktive Filter

ThemaChild

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(512)
Mit Volltextzugriff
(479)

Publikationsform

2 weitere anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(348)
Life Sciences & Biomedicine
(288)
Humans
(227)
Animals
(120)
Biological And Medical Sciences
(114)
Biochemistry & Molecular Biology
(85)
Female
(85)
Male
(85)
Amino Acid Sequence
(67)
Medical Sciences
(64)
Neuronal Ceroid-Lipofuscinoses - Genetics
(60)
Fundamental And Applied Biological Sciences. Psychology
(58)
Adult
(57)
Mice
(47)
Middle Aged
(46)
Mutation
(46)
Cell Biology
(42)
Genetics & Heredity
(42)
Physical Sciences
(41)
Molecular Sequence Data
(38)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(2)
... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses

Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A

Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2

Recent advances in the molecular genetics of the neuronal ceroid lipofuscinoses

Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2

Prenatal diagnosis of Batten's disease

Rapid diagnostic test for the major mutation underlying Batten disease

Batten disease gene, CLN3 : linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes

Assignment of the Human Pulmonary Surfactant Protein D Gene (SFTP4) to 10q22-q23 Close to the Surfactant Protein A Gene Cluster

Genomic Structure and Complete Nucleotide Sequence of the Batten Disease Gene,CLN3

Structure and function of SV40 large-T antigen

A murine model for juvenile NCL: gene targeting of mouse Cln3

Sharing of PPT mutations between distinct clinical forms of neuronal ceroid lipofuscinoses in patients from Scotland

Identification of a Transactivation Motif in the CLN3 Protein

Characterisation of a boundary between satellite III and alphoid sequences on human chromosome 10

Epitope mapping

Batten Disease: Four Genes and Still Counting

Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5

Cerebrospinal fluid neurofilament light chain levels in CLN2 disease patients treated with enzyme replacement therapy normalise after two years on treatment [version 2; peer review: 2 approved]

A multiple interval physical map of the pericentromeric region of human chromosome 10

Use of simian virus 40 large T-beta-galactosidase fusion proteins in an immunochemical analysis of simian virus 40 large T antigen

Dinucleotide repeat polymorphisms at the D10S183 and D10S245 loci

Using the polymerase chain reaction to modify expression plasmids for epitope mapping

Aktive Filter

Suchergebnisse filtern