UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 119

Sortiert nach

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Human mutation, 2016-06, Vol.37 (6), p.564-569

2016

Volltextzugriff (PDF)

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

Human mutation, 2008-01, Vol.29 (1), p.6-13

2008

Volltextzugriff (PDF)

LOVD v.2.0: the next generation in gene variant databases

Human mutation, 2011-05, Vol.32 (5), p.557-563

2011

Volltextzugriff (PDF)

Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications

Human mutation, 2017-04, Vol.38 (4), p.339-342

2017

Volltextzugriff (PDF)

Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era

Human mutation, 2014-06, Vol.35 (6), p.766-778

2014

Volltextzugriff (PDF)

Mutalyzer 2: next generation HGVS nomenclature checker

Bioinformatics (Oxford, England), 2021-09, Vol.37 (18), p.2811-2817

2021

Volltextzugriff (PDF)

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

Genome medicine, 2010-04, Vol.2 (4), p.24-24

2010

Volltextzugriff (PDF)

Describing structural changes by extending HGVS sequence variation nomenclature

Human mutation, 2011-05, Vol.32 (5), p.507-511

2011

Volltextzugriff (PDF)

In search of triallelism in Bardet-Biedl syndrome

European journal of human genetics : EJHG, 2012-04, Vol.20 (4), p.420-427

2012

Volltextzugriff (PDF)

Mutations in SDHD, A Mitochondrial Complex II Gene, in Hereditary Paraganglioma

Science (American Association for the Advancement of Science), 2000-02, Vol.287 (5454), p.848-851

2000

Volltextzugriff (PDF)

A germline chromothripsis event stably segregating in 11 individuals through three generations

Genetics in medicine, 2016-05, Vol.18 (5), p.494-500

2016

Volltextzugriff (PDF)

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency

BMC medical genetics, 2005-11, Vol.6 (1), p.39-39, Article 39

2005

Volltextzugriff (PDF)

Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma

PloS one, 2009-11, Vol.4 (11), p.e7987-e7987

2009

Volltextzugriff (PDF)

An efficient algorithm for the extraction of HGVS variant descriptions from sequences

Bioinformatics (Oxford, England), 2015-12, Vol.31 (23), p.3751-3757

2015

Volltextzugriff (PDF)

Curating gene variant databases (LSDBs): Toward a universal standard

Human mutation, 2012-02, Vol.33 (2), p.291-297

2012

Volltextzugriff (PDF)

Deep sequencing to reveal new variants in pooled DNA samples

Human mutation, 2009-12, Vol.30 (12), p.1703-1712

2009

Volltextzugriff (PDF)

Polymorphism of μ-opioid receptor gene (OPRM1:c.118a>G) does not protect against opioid-induced respiratory depression despite reduced analgesic response

Anesthesiology (Philadelphia), 2005-03, Vol.102 (3), p.522-530

2005

Volltextzugriff (PDF)

LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

Human mutation, 2005-08, Vol.26 (2), p.63-68

2005

Volltextzugriff (PDF)

Novel CLN3 mutation causing autophagic vacuolar myopathy

Neurology, 2015-02, Vol.84 (6), p.632

2015

Volltextzugriff (PDF)

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families

Oncogene, 2004-05, Vol.23 (23), p.4076-4083

2004

Volltextzugriff (PDF)

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form

BMC bioinformatics, 2011-07, Vol.12 Suppl 4 (S4), p.S5-S5, Article S5

2011

Volltextzugriff (PDF)

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

BMC medical genetics, 2006-01, Vol.7 (1), p.1-1, Article 1

2006

Volltextzugriff (PDF)

Caenorhabditis elegans as a model for lysosomal storage disorders

Biochimica et biophysica acta, 2008-07, Vol.1782 (7), p.433-446

2008

Volltextzugriff (PDF)

1 – 25 von 119

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(104)
Mit Volltextzugriff
(111)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(87)
Life Sciences & Biomedicine
(77)
Humans
(70)
Genetics & Heredity
(39)
Biological And Medical Sciences
(29)
Male
(29)
Female
(26)
Mutation
(25)
Medical Sciences
(24)
Genes
(18)
Neuronal Ceroid-Lipofuscinoses - Genetics
(15)
Metabolic Diseases
(14)
Tumors
(14)
Adult
(13)
Errors Of Metabolism
(13)
Genetics
(13)
Genomes
(13)
Molecular Sequence Data
(13)
Biochemistry & Molecular Biology
(12)
Genetic Variation
(12)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

Human Mutation
(16)
Cancer Research
(7)
American Journal Of Human Genetics
(4)
American Journal Of Medical Genetics
(4)
Genomics
(4)
Anesthesiology
(3)
Biochimica Et Biophysica Acta. Molecular Basis Of Disease
(3)
Blood
(3)
Carbon
(3)
Glia
(3)

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

HGVS Recommendations for the Description of Sequence Variants: 2016 Update

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

LOVD v.2.0: the next generation in gene variant databases

Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and Publications

The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery

Recommended Guidelines for Validation, Quality Control, and Reporting of TP53 Variants in Clinical Practice

Recommendations for Analyzing and Reporting TP53 Gene Variants in the High-Throughput Sequencing Era

Mutalyzer 2: next generation HGVS nomenclature checker

Locus Reference Genomic sequences: an improved basis for describing human DNA variants

Describing structural changes by extending HGVS sequence variation nomenclature

In search of triallelism in Bardet-Biedl syndrome

Mutations in SDHD, A Mitochondrial Complex II Gene, in Hereditary Paraganglioma

A germline chromothripsis event stably segregating in 11 individuals through three generations

The SDH mutation database: an online resource for succinate dehydrogenase sequence variants involved in pheochromocytoma, paraganglioma and mitochondrial complex II deficiency

Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma

An efficient algorithm for the extraction of HGVS variant descriptions from sequences

Curating gene variant databases (LSDBs): Toward a universal standard

Deep sequencing to reveal new variants in pooled DNA samples

Polymorphism of μ-opioid receptor gene (OPRM1:c.118a>G) does not protect against opioid-induced respiratory depression despite reduced analgesic response

LOVD: Easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach

Novel CLN3 mutation causing autophagic vacuolar myopathy

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

Caenorhabditis elegans as a model for lysosomal storage disorders

Suchergebnisse filtern