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...

An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy

International journal of molecular sciences, 2024-07, Vol.25 (14), p.7793

2024

Volltextzugriff (PDF)

A statistical approach to detection of copy number variations in PCR-enriched targeted sequencing data

BMC bioinformatics, 2016-10, Vol.17 (1), p.429-429, Article 429

2016

Volltextzugriff (PDF)

MDM2, MDM4 and EGFR Amplifications and Hyperprogression in Metastatic Acral and Mucosal Melanoma

Cancers, 2020-02, Vol.12 (3), p.540

2020

Volltextzugriff (PDF)

Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients

Cancers, 2020-09, Vol.12 (9), p.2359

2020

Volltextzugriff (PDF)

Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation

PLoS computational biology, 2021-02, Vol.17 (2), p.e1007784

2021

Volltextzugriff (PDF)

Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank

BMC medical genomics, 2022-05, Vol.15 (1), p.119-119, Article 119

2022

Volltextzugriff (PDF)

Genomes in clinical care

Npj genomic medicine, 2024-03, Vol.9 (1), p.20-20, Article 20

2024

Volltextzugriff (PDF)

Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data

Molecular genetics & genomic medicine, 2021-12, Vol.9 (12), p.e1807-n/a

2021

Volltextzugriff (PDF)

New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.3053-3056

2021

Volltextzugriff (PDF)

INTERPRETATION OF RELIGIOUS PHENOMENA IN RUSSIAN PHILOSOPHY IN THE BEGINNING OF 20TH CENTURY AS A RESPONSE TO THE MODERNITY CHALLENGES

RSUH/RGGU Bulletin. Series Philosophy. Social Studies. Art Studies, 2017 (1), p.93-105

Demidov, German V.

2017

Volltextzugriff (PDF)

Circulating cell-free DNA: A potential biomarker to differentiate inflammation and infection during radiochemotherapy

Radiotherapy and oncology, 2018-12, Vol.129 (3), p.575-581

2018

Volltextzugriff (PDF)

Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder

Movement disorders, 2023-02, Vol.38 (2), p.347-353

2023

Volltextzugriff (PDF)

SECULARISM AND RELIGION. THE TRANSFORMATION OF THE CONCEPT OF "RELIGIOUS EDUCATION" IN THE MODERN WORLD

RSUH/RGGU Bulletin. Series Philosophy. Social Studies. Art Studies, 2016 (4), p.43-60

Demidov, German V.

2016

Volltextzugriff (PDF)

Radiogenomics in head and neck cancer: correlation of radiomic heterogeneity and somatic mutations in TP53, FAT1 and KMT2D

Strahlentherapie und Onkologie, 2019-09, Vol.195 (9), p.771-779

2019

Volltextzugriff (PDF)

Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients

European journal of human genetics : EJHG, 2023-10, Vol.31 (10), p.1139-1146

2023

Volltextzugriff (PDF)

Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD

European journal of medical genetics, 2022-05, Vol.65 (5), p.104475-104475, Article 104475

2022

Volltextzugriff (PDF)

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

European journal of human genetics : EJHG, 2024-02, Vol.32 (2), p.248-248

2024

Volltextzugriff (PDF)

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

European journal of human genetics : EJHG, 2024-08, Vol.32 (8), p.998-1004

2024

Volltextzugriff (PDF)

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

European journal of human genetics : EJHG, 2024-02, Vol.32 (2), p.200-208

2024

Volltextzugriff (PDF)

Allele balance bias identifies systematic genotyping errors and false disease associations

Human mutation, 2018-10

2018

Volltextzugriff (PDF)

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Genetics in medicine, 2023-10, Vol.25 (10), p.100961, Article 100961

2023

Volltextzugriff (PDF)

1 – 25 von 33

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(30)
Mit Volltextzugriff
(29)

Publikationsform

Artikel
(32)
Berichte
(1)

Sprache

Englisch
(33)
Japanisch
(2)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Cancer immune control needs senescence induction by interferon-dependent cell cycle regulator pathways in tumours

An Integrated Transcriptomics and Genomics Approach Detects an X/Autosome Translocation in a Female with Duchenne Muscular Dystrophy

A statistical approach to detection of copy number variations in PCR-enriched targeted sequencing data

MDM2, MDM4 and EGFR Amplifications and Hyperprogression in Metastatic Acral and Mucosal Melanoma

Distinct Mutation Patterns Reveal Melanoma Subtypes and Influence Immunotherapy Response in Advanced Melanoma Patients

Efficient and flexible Integration of variant characteristics in rare variant association studies using integrated nested Laplace approximation

Exome-wide analysis of copy number variation shows association of the human leukocyte antigen region with asthma in UK Biobank

Genomes in clinical care

Detection of mobile elements insertions for routine clinical diagnostics in targeted sequencing data

Enhanced epigenetic profiling of classical human monocytes reveals a specific signature of healthy aging in the DNA methylome

New euchromatic variant dup(11)(p15.3p15.1) transmitted through two generations defined by low coverage whole genome sequencing

INTERPRETATION OF RELIGIOUS PHENOMENA IN RUSSIAN PHILOSOPHY IN THE BEGINNING OF 20TH CENTURY AS A RESPONSE TO THE MODERNITY CHALLENGES

Circulating cell-free DNA: A potential biomarker to differentiate inflammation and infection during radiochemotherapy

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases

Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder

SECULARISM AND RELIGION. THE TRANSFORMATION OF THE CONCEPT OF "RELIGIOUS EDUCATION" IN THE MODERN WORLD

Radiogenomics in head and neck cancer: correlation of radiomic heterogeneity and somatic mutations in TP53, FAT1 and KMT2D

Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients

Solving the genetic aetiology of hereditary gastrointestinal tumour syndromes– a collaborative multicentre endeavour within the project Solve-RD

Titin copy number variations associated with dominant inherited phenotypes

Correction: Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes

Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples

Allele balance bias identifies systematic genotyping errors and false disease associations

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Suchergebnisse filtern