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...

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

American journal of human genetics, 2016-05, Vol.98 (5), p.971-980

2016

Volltextzugriff (PDF)

Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria

American journal of human genetics, 2015-04, Vol.96 (4), p.631-639

2015

Volltextzugriff (PDF)

Large-scale discovery of novel genetic causes of developmental disorders

Nature (London), 2015-03, Vol.519 (7542), p.223-228

2015

Volltextzugriff (PDF)

The AP-1 binding sites located in the pol gene intragenic regulatory region of HIV-1 are important for viral replication

PloS one, 2011-04, Vol.6 (4), p.e19084

2011

Volltextzugriff (PDF)

Efficient introduction of specific homozygous and heterozygous mutations using CRISPR/Cas9

Nature (London), 2016-05, Vol.533 (7601), p.125-129

2016

Volltextzugriff (PDF)

Obesity-associated variants within FTO form long-range functional connections with IRX3

Nature (London), 2014-03, Vol.507 (7492), p.371-375

2014

Volltextzugriff (PDF)

Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents

Nature (London), 2018-01, Vol.553 (7687), p.217-221

2018

Volltextzugriff (PDF)

Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations

Nature (London), 2017-05, Vol.545 (7653), p.229-233

2017

Volltextzugriff (PDF)

Targeted capture and massively parallel sequencing of 12 human exomes

Nature (London), 2009-09, Vol.461 (7261), p.272-276

2009

Volltextzugriff (PDF)

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Nature (London), 2012-02, Vol.482 (7383), p.98-102

2012

Volltextzugriff (PDF)

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

Proceedings of the National Academy of Sciences - PNAS, 2021-01, Vol.118 (3), p.1

2021

Volltextzugriff (PDF)

Broad CTL response is required to clear latent HIV-1 due to dominance of escape mutations

Nature (London), 2015-01, Vol.517 (7534), p.381-385

2015

Volltextzugriff (PDF)

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

Immunity (Cambridge, Mass.), 2015-06, Vol.42 (6), p.1185-1196

2015

Volltextzugriff (PDF)

Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease

Human molecular genetics, 2017-10, Vol.26 (R2), p.R114-R127

2017

Volltextzugriff (PDF)

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

American journal of human genetics, 2015-02, Vol.96 (2), p.275-282

2015

Volltextzugriff (PDF)

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

Nature (London), 2011-09, Vol.477 (7363), p.211-215

2011

Volltextzugriff (PDF)

Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome

American journal of human genetics, 2015-02, Vol.96 (2), p.266-274

2015

Volltextzugriff (PDF)

Genetic and pharmacological disruption of the TEAD-YAP complex suppresses the oncogenic activity of YAP

Genes & development, 2012-06, Vol.26 (12), p.1300-1305

2012

Volltextzugriff (PDF)

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Genetics in medicine, 2017-10, Vol.19 (10), p.1144-1150

2017

Volltextzugriff (PDF)

The molecular basis of β-thalassemia

Cold Spring Harbor perspectives in medicine, 2013-05, Vol.3 (5), p.a011700

Thein, Swee Lay

2013

Volltextzugriff (PDF)

A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

American journal of human genetics, 2015-06, Vol.96 (6), p.938-947

2015

Volltextzugriff (PDF)

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

American journal of human genetics, 2016-10, Vol.99 (4), p.860-876

2016

Volltextzugriff (PDF)

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

American journal of human genetics, 2011-08, Vol.89 (2), p.241-252

2011

Volltextzugriff (PDF)

Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis

Neurology, 2014-07, Vol.83 (3), p.253-260

2014

Volltextzugriff (PDF)

1 – 25 von 21.659

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(18.106)
Mit Volltextzugriff
(16.062)

Publikationsform

1 weiteren anzeigen...

Weniger anzeigen...

Sprache

15 weitere anzeigen...

Weniger anzeigen...

Erscheinungsjahr

n.n

Thema

Science & Technology
(16.391)
Genes, Dominant
(15.773)
Life Sciences & Biomedicine
(15.632)
Humans
(14.898)
Female
(10.409)
Male
(10.131)
Biological And Medical Sciences
(6.510)
Pedigree
(6.081)
Genetics & Heredity
(6.015)
Animals
(5.981)
Mutation
(5.475)
Adult
(5.467)
Medical Sciences
(4.659)
Middle Aged
(3.544)
Phenotype
(3.510)
Child
(2.941)
Mice
(2.748)
Adolescent
(2.617)
Biochemistry & Molecular Biology
(2.586)
Genes
(2.507)

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

MEDLINE
(20.550)
EZB Electronic Journals Library
(10.283)
Ingenta
(8.654)
Single Title from Ovid
(7.466)
Publisher or Other Site
(5.534)
Wiley-Blackwell Journals
(3.577)
Elsevier ScienceDirect Journals Complete
(3.109)
Wiley Online Library
(3.060)
IngentaConnect Journals
(2.932)
Springer Journals
(2.448)
Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
(1.933)
SpringerLINK Contemporary (Konsortium Baden-Württemberg)
(1.830)
Oxford University Press Journals Current
(1.708)
Nature Journals Online
(985)
Jstor Complete Legacy
(815)
British Medical Journals Online Archive (BMJ)
(702)
BMJ Journals Archiv - DFG Nationallizenzen
(656)
Oxford Journals 2020 Medicine
(652)
Nexis Uni
(562)
Taylor & Francis Journals Auto-Holdings Collection
(461)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(11)

Menü

Weitere Dienste

Einstellungen

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome

Submicroscopic Deletions at 13q32.1 Cause Congenital Microcoria

Large-scale discovery of novel genetic causes of developmental disorders

The AP-1 binding sites located in the pol gene intragenic regulatory region of HIV-1 are important for viral replication

Efficient introduction of specific homozygous and heterozygous mutations using CRISPR/Cas9

Obesity-associated variants within FTO form long-range functional connections with IRX3

Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents

Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations

Targeted capture and massively parallel sequencing of 12 human exomes

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

Broad CTL response is required to clear latent HIV-1 due to dominance of escape mutations

Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

Emerging mechanisms of aminoacyl-tRNA synthetase mutations in recessive and dominant human disease

A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

Mutations in DDX58, which Encodes RIG-I, Cause Atypical Singleton-Merten Syndrome

Genetic and pharmacological disruption of the TEAD-YAP complex suppresses the oncogenic activity of YAP

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

The molecular basis of β-thalassemia

A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Symptom onset in autosomal dominant Alzheimer disease: a systematic review and meta-analysis

Suchergebnisse filtern