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...

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Nature genetics, 2019-11, Vol.51 (11), p.1560-1565

2019

Volltextzugriff (PDF)

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

The Journal of experimental medicine, 2019-02, Vol.216 (2), p.407-418

2019

Volltextzugriff (PDF)

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

Bioinformatics, 2019-11, Vol.35 (22), p.4754-4756

2019

Volltextzugriff (PDF)

A molecular hypothesis to explain direct and inverse co-morbidities between Alzheimer's Disease, Glioblastoma and Lung cancer

Scientific reports, 2017-06, Vol.7 (1), p.4474-12, Article 4474

2017

Volltextzugriff (PDF)

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Lancet neurology, 2022-03, Vol.21 (3), p.234-245

2022

Volltextzugriff (PDF)

PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer

Journal of clinical oncology, 2019-02, Vol.37 (6), p.490-503

2019

Volltextzugriff (PDF)

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

Genome medicine, 2022-08, Vol.14 (1), p.84-84, Article 84

2022

Volltextzugriff (PDF)

A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

Nature cancer, 2021-06, Vol.2 (6), p.643-657

2021

Volltextzugriff (PDF)

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia

Brain (London, England : 1878), 2023-07, Vol.146 (7), p.2869-2884

2023

Volltextzugriff (PDF)

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example

Genetics in medicine, 2017-11, Vol.19 (11), p.1285-1285

2017

Volltextzugriff (PDF)

Genomic loci susceptible to systematic sequencing bias in clinical whole genomes

Genome research, 2020-03, Vol.30 (3), p.415-426

2020

Volltextzugriff (PDF)

Molecular and histologic insights on early onset cardiomyopathy in Danon disease females

Clinical genetics, 2021-03, Vol.99 (3), p.481-483

2021

Volltextzugriff (PDF)

A common structural scaffold in CTD phosphatases that supports distinct catalytic mechanisms

Proteins, structure, function, and bioinformatics, 2014-01, Vol.82 (1), p.103-118

2014

Volltextzugriff (PDF)

C12 HTT repeat instability in family trios in the 100,000 genomes project

Journal of neurology, neurosurgery and psychiatry, 2022-09, Vol.93 (Suppl 1), p.A20-A20

2022

Volltextzugriff (PDF)

Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma

Scientific reports, 2021-02, Vol.11 (1), p.3962-13, Article 3962

2021

Volltextzugriff (PDF)

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

Brain (London, England : 1878), 2023-07, Vol.146 (7), p.2723-2729

2023

Volltextzugriff (PDF)

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Brain (London, England : 1878), 2021-03, Vol.144 (2), p.584-600

2021

Volltextzugriff (PDF)

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

Nucleic acids research, 2013-01, Vol.41 (Database issue), p.D142-D151

2013

Volltextzugriff (PDF)

Next generation sequencing (NGS) as a useful tool to identify clinically meaningful somatic and germinal variants in the early stages of non-small-cell lung cancer (NSCLC)

Journal of clinical oncology, 2016-05, Vol.34 (15_suppl), p.e20068-e20068

2016

Volltextzugriff (PDF)

A common structural scaffold in CTD phosphatases that supports distinct catalytic mechanisms: CTD Phosphatases Share a Common Structural Scaffold

Proteins, structure, function, and bioinformatics, 2014-01, Vol.82 (1), p.103-118

2014

Volltextzugriff (PDF)

Outcomes of metastatic castration resistant prostate cancer (mCRPC) patients with DNA repair germline mutations (gDDR) following first taxane-based treatment

Journal of clinical oncology, 2018-02, Vol.36 (6_suppl), p.247-247

2018

Volltextzugriff (PDF)

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

Communications biology, 2021-03, Vol.4 (1), p.392-392, Article 392

2021

Volltextzugriff (PDF)

1 – 25 von 48

Suche als RSS-Feed

Aktive Filter

ThemaGene Expression

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(44)
Mit Volltextzugriff
(37)

Publikationsform

Artikel
(45)
Bücher
(2)
Berichte
(1)

Sprache

Englisch
(48)
Japanisch
(7)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly

ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions

A molecular hypothesis to explain direct and inverse co-morbidities between Alzheimer's Disease, Glioblastoma and Lung cancer

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer

Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study

REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats

A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype

Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example

A New Overgrowth Syndrome is due to Mutations in RNF125

Genomic loci susceptible to systematic sequencing bias in clinical whole genomes

Molecular and histologic insights on early onset cardiomyopathy in Danon disease females

A common structural scaffold in CTD phosphatases that supports distinct catalytic mechanisms

C12 HTT repeat instability in family trios in the 100,000 genomes project

Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma

Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population

An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

Next generation sequencing (NGS) as a useful tool to identify clinically meaningful somatic and germinal variants in the early stages of non-small-cell lung cancer (NSCLC)

A common structural scaffold in CTD phosphatases that supports distinct catalytic mechanisms: CTD Phosphatases Share a Common Structural Scaffold

Outcomes of metastatic castration resistant prostate cancer (mCRPC) patients with DNA repair germline mutations (gDDR) following first taxane-based treatment

Identification of a missense variant in SPDL1 associated with idiopathic pulmonary fibrosis

Aktive Filter

Suchergebnisse filtern