UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 46

Sortiert nach

Quantitative analysis of population-scale family trees with millions of relatives

Science (American Association for the Advancement of Science), 2018-04, Vol.360 (6385), p.171-175

2018

Link zum Volltext

Verfügbarkeit prüfen

Abundant contribution of short tandem repeats to gene expression variation in humans

Nature genetics, 2016-01, Vol.48 (1), p.22-29

2016

Link zum Volltext

Verfügbarkeit prüfen

Protein recognition by a pattern-generating fluorescent molecular probe

Nature nanotechnology, 2017-12, Vol.12 (12), p.1161-1168

2017

Link zum Volltext

Verfügbarkeit prüfen

Mechanotransduction via the LINC complex regulates DNA replication in myonuclei

The Journal of cell biology, 2018-06, Vol.217 (6), p.2005-2018

2018

Link zum Volltext

Verfügbarkeit prüfen

OTX2 duplication is implicated in hemifacial microsomia

PloS one, 2014-05, Vol.9 (5), p.e96788

2014

Link zum Volltext

Verfügbarkeit prüfen

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size

PLoS genetics, 2016-03, Vol.12 (3), p.e1005919-e1005919

2016

Link zum Volltext

Verfügbarkeit prüfen

mRNA-seq whole transcriptome profiling of fresh frozen versus archived fixed tissues

BMC genomics, 2018-05, Vol.19 (1), p.419-419, Article 419

2018

Link zum Volltext

Verfügbarkeit prüfen

Genomic structural plasticity of rodent‐associated Bartonella in nature

Molecular ecology, 2022-07, Vol.31 (14), p.3784-3797

2022

Link zum Volltext

Verfügbarkeit prüfen

Divergence of mutational signatures in association with breast cancer subtype

Molecular carcinogenesis, 2022-11, Vol.61 (11), p.1056-1070

2022

Link zum Volltext

Verfügbarkeit prüfen

Three interacting genomic loci incorporating two novel mutations underlie the evolution of diet-induced diabetes

Molecular medicine (Cambridge, Mass.), 2016-01, Vol.22 (1), p.560-569

2016

Link zum Volltext

Verfügbarkeit prüfen

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2695-2703

2018

Link zum Volltext

Verfügbarkeit prüfen

Bartonella kosoyi sp. nov. and Bartonella krasnovii sp. nov., two novel species closely related to the zoonotic Bartonella elizabethae , isolated from black rats and wild desert rodent-fleas

International journal of systematic and evolutionary microbiology, 2020-03, Vol.70 (3), p.1656-1665

2020

Link zum Volltext

Verfügbarkeit prüfen

A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

Human mutation, 2013-04, Vol.34 (4), p.582-586

2013

Link zum Volltext

Verfügbarkeit prüfen

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)

Journal of medical genetics, 2014-05, Vol.51 (5), p.303-308

2014

Link zum Volltext

Verfügbarkeit prüfen

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1

Human mutation, 2012-10, Vol.33 (10), p.1435-1438

2012

Link zum Volltext

Verfügbarkeit prüfen

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

European journal of human genetics : EJHG, 2014-05, Vol.22 (5), p.703-706

2014

Link zum Volltext

Verfügbarkeit prüfen

Varied Clinical Presentations of Seven Patients With Mutations in CYP11A1 Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc

The journal of clinical endocrinology and metabolism, 2013-02, Vol.98 (2), p.713-720

2013

Link zum Volltext

Verfügbarkeit prüfen

Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation

American journal of human genetics, 2010-12, Vol.87 (6), p.820-828

2010

Link zum Volltext

Verfügbarkeit prüfen

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A

European journal of human genetics : EJHG, 2015-12, Vol.23 (12), p.1729-1734

2015

Link zum Volltext

Verfügbarkeit prüfen

Prophage-Driven Genomic Structural Changes Promote Bartonella Vertical Evolution

Genome biology and evolution, 2018-11, Vol.10 (11), p.3089-3103

2018

Link zum Volltext

Verfügbarkeit prüfen

Integration of SNP genotyping confidence scores in IBD inference

Bioinformatics, 2011-10, Vol.27 (20), p.2880-2887

2011

Link zum Volltext

Verfügbarkeit prüfen

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

European journal of human genetics : EJHG, 2011-09, Vol.19 (9), p.942-946

2011

Link zum Volltext

Verfügbarkeit prüfen

DNA Repair Biomarker for Lung Cancer Risk and its Correlation With Airway Cells Gene Expression

JNCI cancer spectrum, 2020-02, Vol.4 (1), p.pkz067-pkz067

2020

Link zum Volltext

Verfügbarkeit prüfen

P1.04-22 Potential DNA Repair Biomarker for Response to Immunotherapy of Lung Cancer Patients

Journal of thoracic oncology, 2019-10, Vol.14 (10), p.S447-S448

2019

Link zum Volltext

Verfügbarkeit prüfen

Response to Biancheri et al. and Boepsflug-Tanguy et al.: AIMP1/p43 Connatal PMLD

American journal of human genetics, 2011-03, Vol.88 (3), p.393-395

2011

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 46

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(38)
Mit Volltextzugriff
(45)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Quantitative analysis of population-scale family trees with millions of relatives

Abundant contribution of short tandem repeats to gene expression variation in humans

Protein recognition by a pattern-generating fluorescent molecular probe

Mechanotransduction via the LINC complex regulates DNA replication in myonuclei

OTX2 duplication is implicated in hemifacial microsomia

ALFY-Controlled DVL3 Autophagy Regulates Wnt Signaling, Determining Human Brain Size

mRNA-seq whole transcriptome profiling of fresh frozen versus archived fixed tissues

Genomic structural plasticity of rodent‐associated Bartonella in nature

Divergence of mutational signatures in association with breast cancer subtype

Three interacting genomic loci incorporating two novel mutations underlie the evolution of diet-induced diabetes

Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe

Bartonella kosoyi sp. nov. and Bartonella krasnovii sp. nov., two novel species closely related to the zoonotic Bartonella elizabethae , isolated from black rats and wild desert rodent-fleas

A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation

Varied Clinical Presentations of Seven Patients With Mutations in CYP11A1 Encoding the Cholesterol Side-Chain Cleavage Enzyme, P450scc

Pelizaeus-Merzbacher-like Disease Caused by AIMP1/p43 Homozygous Mutation

A syndrome of congenital microcephaly, intellectual disability and dysmorphism with a homozygous mutation in FRMD4A

Prophage-Driven Genomic Structural Changes Promote Bartonella Vertical Evolution

Integration of SNP genotyping confidence scores in IBD inference

The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter

DNA Repair Biomarker for Lung Cancer Risk and its Correlation With Airway Cells Gene Expression

P1.04-22 Potential DNA Repair Biomarker for Response to Immunotherapy of Lung Cancer Patients

Response to Biancheri et al. and Boepsflug-Tanguy et al.: AIMP1/p43 Connatal PMLD

Suchergebnisse filtern