UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Sie befinden Sich nicht im Netzwerk der Universität Paderborn. Der Zugriff auf elektronische Ressourcen ist gegebenenfalls nur via VPN oder Shibboleth (DFN-AAI) möglich. mehr Informationen...

How many rare diseases are there?

Nature reviews. Drug discovery, 2020-02, Vol.19 (2), p.77-78

2020

Link zum Volltext

Verfügbarkeit prüfen

What’s in a name? Issues to consider when naming Mendelian disorders

Genetics in medicine, 2020-10, Vol.22 (10), p.1573-1575

2020

Link zum Volltext

Verfügbarkeit prüfen

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Genetics in medicine, 2021-06, Vol.23 (6), p.1028-1040

2021

Link zum Volltext

Verfügbarkeit prüfen

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

Orphanet journal of rare diseases, 2021-08, Vol.16 (1), p.365-365, Article 365

2021

Link zum Volltext

Verfügbarkeit prüfen

Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita

Proceedings of the National Academy of Sciences - PNAS, 2005-11, Vol.102 (44), p.15960-15964

2005

Link zum Volltext

Verfügbarkeit prüfen

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Human mutation, 2015-10, Vol.36 (10), p.928-930

2015

Link zum Volltext

Verfügbarkeit prüfen

Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report

Molecular genetics & genomic medicine, 2022-08, Vol.10 (8), p.e1947-n/a

2022

Link zum Volltext

Verfügbarkeit prüfen

P155: The ClinGen framework for naming monogenic diseases

Genetics in Medicine Open, 2024, Vol.2, p.101052

2024

Link zum Volltext

Verfügbarkeit prüfen

Association of Human Aging with a Functional Variant of Klotho

Proceedings of the National Academy of Sciences - PNAS, 2002-01, Vol.99 (2), p.856-861

2002

Link zum Volltext

Verfügbarkeit prüfen

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

Human mutation, 2011-05, Vol.32 (5), p.564-567

2011

Link zum Volltext

Verfügbarkeit prüfen

Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes

Current Protocols in Bioinformatics, 2017-06, Vol.58 (1), p.1.2.1-1.2.12

2017

Link zum Volltext

Verfügbarkeit prüfen

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem

JIMD reports, 2023-05, Vol.64 (3), p.233-237

2023

Link zum Volltext

Verfügbarkeit prüfen

P669: VariantMatcher: A tool to enable connections amongst individuals with interest in a specific variant

Genetics in Medicine Open, 2023, Vol.1 (1), p.100734, Article 100734

2023

Link zum Volltext

Verfügbarkeit prüfen

The impact of the Turkish population variome on the genomic architecture of rare disease traits

Genetics in Medicine Open, 2024, Vol.2, p.101830, Article 101830

2024

Link zum Volltext

Verfügbarkeit prüfen

OMIM.org: leveraging knowledge across phenotype-gene relationships

Nucleic acids research, 2019-01, Vol.47 (D1), p.D1038

2019

Link zum Volltext

Verfügbarkeit prüfen

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

Frontiers in genetics, 2019-07, Vol.10, p.611-611

2019

Link zum Volltext

Verfügbarkeit prüfen

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

Nucleic acids research, 2015-01, Vol.43 (Database issue), p.D789

2015

Link zum Volltext

Verfügbarkeit prüfen

Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange

Annual review of genomics and human genetics, 2020-08, Vol.21 (1), p.305-326

2020

Link zum Volltext

Verfügbarkeit prüfen

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

Human mutation, 2015-04, Vol.36 (4), p.425-431

2015

Link zum Volltext

Verfügbarkeit prüfen

McKusick's Online Mendelian Inheritance in Man (OMIM)

Nucleic acids research, 2009-01, Vol.37 (Database issue), p.D793

2009

Link zum Volltext

Verfügbarkeit prüfen

229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

Neuromuscular disorders : NMD, 2018-08, Vol.28 (8), p.702-710

2018

Link zum Volltext

Verfügbarkeit prüfen

Transcriptome and genome sequencing uncovers functional variation in humans

Nature (London), 2013-09, Vol.501 (7468), p.506-511

2013

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 148

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(139)
Mit Volltextzugriff
(131)

Publikationsform

Sprache

Englisch
(147)
Spanisch
(1)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(4)

Menü

Weitere Dienste

Einstellungen

How many rare diseases are there?

Insights into genetics, human biology and disease gleaned from family based genomic studies

What’s in a name? Issues to consider when naming Mendelian disorders

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

Haploinsufficiency of Telomerase Reverse Transcriptase Leads to Anticipation in Autosomal Dominant Dyskeratosis Congenita

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Monochorionic twins with 15q26.3 duplication presenting with selective intrauterine growth restriction and discordant cardiac anomalies: A case report

P155: The ClinGen framework for naming monogenic diseases

Association of Human Aging with a Functional Variant of Klotho

A new face and new challenges for Online Mendelian Inheritance in Man (OMIM®)

Searching Online Mendelian Inheritance in Man (OMIM): A Knowledgebase of Human Genes and Genetic Phenotypes

The remarkable journey of one female individual with ornithine transcarbamylase deficiency diagnosed post‐mortem

P669: VariantMatcher: A tool to enable connections amongst individuals with interest in a specific variant

The impact of the Turkish population variome on the genomic architecture of rare disease traits

OMIM.org: leveraging knowledge across phenotype-gene relationships

Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative

P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition

P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange

New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene

McKusick's Online Mendelian Inheritance in Man (OMIM)

229th ENMC international workshop: Limb girdle muscular dystrophies – Nomenclature and reformed classification Naarden, the Netherlands, 17–19 March 2017

Transcriptome and genome sequencing uncovers functional variation in humans

Suchergebnisse filtern