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...

MutationTaster2: mutation prediction for the deep-sequencing age

Nature methods, 2014-04, Vol.11 (4), p.361-362

2014

Volltextzugriff (PDF)

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

Human genetics, 2020-10, Vol.139 (10), p.1197-1207

2020

Volltextzugriff (PDF)

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Human genetics, 2017-06, Vol.136 (6), p.665-677

2017

Volltextzugriff (PDF)

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants

Human genetics, 2022-02, Vol.141 (2), p.177-191

2022

Volltextzugriff (PDF)

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

Nature genetics, 2016-12, Vol.48 (12), p.1581-1586

2016

Volltextzugriff (PDF)

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

Bioinformatics, 2015-05, Vol.31 (10), p.1536-1543

2015

Volltextzugriff (PDF)

FATHMM-XF: accurate prediction of pathogenic point mutations via extended features

Bioinformatics, 2018-02, Vol.34 (3), p.511-513

2018

Volltextzugriff (PDF)

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

Nature communications, 2020-11, Vol.11 (1), p.5918-13, Article 5918

2020

Volltextzugriff (PDF)

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Human genetics, 2014-01, Vol.133 (1), p.1-9

2014

Volltextzugriff (PDF)

Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes

Human genomics, 2010-06, Vol.4 (5), p.284-288

Cooper, David N

2010

Volltextzugriff (PDF)

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

Human mutation, 2013-01, Vol.34 (1), p.57-65

2013

Volltextzugriff (PDF)

The NF1 somatic mutational landscape in sporadic human cancers

Human genomics, 2017-06, Vol.11 (1), p.13-13, Article 13

2017

Volltextzugriff (PDF)

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

American journal of human genetics, 2012-12, Vol.91 (6), p.1022-1032

2012

Volltextzugriff (PDF)

The mutation significance cutoff: gene-level thresholds for variant predictions

Nature methods, 2016-02, Vol.13 (2), p.109-110

2016

Volltextzugriff (PDF)

Predicting the functional consequences of cancer-associated amino acid substitutions

Bioinformatics, 2013-06, Vol.29 (12), p.1504-1510

2013

Volltextzugriff (PDF)

Automated inference of molecular mechanisms of disease from amino acid substitutions

Bioinformatics, 2009-11, Vol.25 (21), p.2744-2750

2009

Volltextzugriff (PDF)

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

American journal of human genetics, 2022-03, Vol.109 (3), p.457-470

2022

Volltextzugriff (PDF)

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

Human mutation, 2015-05, Vol.36 (5), p.513-523

2015

Volltextzugriff (PDF)

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients

PloS one, 2013-08, Vol.8 (8), p.e73522-e73522

2013

Volltextzugriff (PDF)

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

Science (American Association for the Advancement of Science), 2015-04, Vol.348 (6231), p.242-245

2015

Volltextzugriff (PDF)

Gene conversion: mechanisms, evolution and human disease

Nature reviews. Genetics, 2007-10, Vol.8 (10), p.762-775

2007

Volltextzugriff (PDF)

The genetic structure of the Turkish population reveals high levels of variation and admixture

Proceedings of the National Academy of Sciences - PNAS, 2021-09, Vol.118 (36)

2021

Volltextzugriff (PDF)

Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization

NeuroImage (Orlando, Fla.), 2023-10, Vol.279, p.120325-120325, Article 120325

2023

Volltextzugriff (PDF)

Exome sequencing: Dual role as a discovery and diagnostic tool

Annals of neurology, 2012-01, Vol.71 (1), p.5-14

2012

Volltextzugriff (PDF)

Loss of exon identity is a common mechanism of human inherited disease

Genome research, 2011-10, Vol.21 (10), p.1563-1571

2011

Volltextzugriff (PDF)

1 – 25 von 2.700

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(2.420)
Mit Volltextzugriff
(2.254)

Publikationsform

4 weitere anzeigen...

Weniger anzeigen...

Sprache

4 weitere anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

Science & Technology
(1.961)
Life Sciences & Biomedicine
(1.699)
Humans
(1.416)
Male
(714)
Female
(677)
Biological And Medical Sciences
(503)
Adult
(425)
Medical Sciences
(391)
Middle Aged
(389)
Animals
(364)
Genetics & Heredity
(364)
Aged
(241)
Mutation
(214)
General & Internal Medicine
(185)
Physical Sciences
(184)
Fundamental And Applied Biological Sciences. Psychology
(179)
Infectious Diseases
(177)
Biochemistry & Molecular Biology
(172)
Risk Factors
(160)
Adolescent
(146)

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

Human Mutation
(104)
Human Genetics
(101)
Advances In Experimental Medicine And Biology
(70)
Oxygen Transport To Tissue Xviii
(67)
The New England Journal Of Medicine
(45)
The Astrophysical Journal
(40)
Blood
(35)
Human Genomics
(35)
American Journal Of Human Genetics
(32)
Aids
(28)

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

Menü

Weitere Dienste

Einstellungen

MutationTaster2: mutation prediction for the deep-sequencing age

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants

M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity

An integrative approach to predicting the functional effects of non-coding and coding sequence variation

FATHMM-XF: accurate prediction of pathogenic point mutations via extended features

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Functional intronic polymorphisms: Buried treasure awaiting discovery within our genes

Predicting the Functional, Molecular, and Phenotypic Consequences of Amino Acid Substitutions using Hidden Markov Models

The NF1 somatic mutational landscape in sporadic human cancers

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

The mutation significance cutoff: gene-level thresholds for variant predictions

Predicting the functional consequences of cancer-associated amino acid substitutions

Automated inference of molecular mechanisms of disease from amino acid substitutions

Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity

The Evaluation of Tools Used to Predict the Impact of Missense Variants Is Hindered by Two Types of Circularity

A conservative assessment of the major genetic causes of idiopathic chronic pancreatitis: data from a comprehensive analysis of PRSS1, SPINK1, CTRC and CFTR genes in 253 young French patients

Mountain gorilla genomes reveal the impact of long-term population decline and inbreeding

Gene conversion: mechanisms, evolution and human disease

The genetic structure of the Turkish population reveals high levels of variation and admixture

Inferring the genetic relationship between brain imaging-derived phenotypes and risk of complex diseases by Mendelian randomization and genome-wide colocalization

Exome sequencing: Dual role as a discovery and diagnostic tool

Loss of exon identity is a common mechanism of human inherited disease

Suchergebnisse filtern