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...

Gene panel screening for insight towards breast cancer susceptibility in different ethnicities

PloS one, 2020-08, Vol.15 (8), p.e0238295-e0238295

2020

Volltextzugriff (PDF)

A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery

Human mutation, 2016-09, Vol.37 (9), p.835-846

2016

Volltextzugriff (PDF)

A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk

PloS one, 2019-08, Vol.14 (8), p.e0220929-e0220929

2019

Volltextzugriff (PDF)

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

American journal of human genetics, 2012-08, Vol.91 (2), p.313-319

2012

Volltextzugriff (PDF)

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

American journal of human genetics, 2008-04, Vol.82 (4), p.809-821

2008

Volltextzugriff (PDF)

Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia

Frontiers in cellular neuroscience, 2015-10, Vol.9, p.386-386

2015

Volltextzugriff (PDF)

Gain-of-function missense variant in SLC12A2 , encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia

Journal of psychiatric research, 2016-06, Vol.77, p.22-26

2016

Volltextzugriff (PDF)

Extra-Virgin Olive Oil Enhances the Blood-Brain Barrier Function in Mild Cognitive Impairment: A Randomized Controlled Trial

Nutrients, 2022-12, Vol.14 (23), p.5102

2022

Volltextzugriff (PDF)

An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk

BMC research notes, 2022-02, Vol.15 (1), p.26-26, Article 26

2022

Volltextzugriff (PDF)

CEACAM Gene Family Mutations Associated With Inherited Breast Cancer Risk - A Comparative Oncology Approach to Discovery

Frontiers in genetics, 2021-08, Vol.12, p.702889-702889

2021

Volltextzugriff (PDF)

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

EMBO reports, 2014-07, Vol.15 (7), p.766-774

2014

Volltextzugriff (PDF)

Lower frequency of TLR9 variant associated with protection from breast cancer among African Americans

PloS one, 2017-09, Vol.12 (9), p.e0183832-e0183832

2017

Volltextzugriff (PDF)

Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases

BMC medical genomics, 2021-12, Vol.14 (1), p.284-284, Article 284

2021

Volltextzugriff (PDF)

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

American journal of human genetics, 2012-09, Vol.91 (3), p.548-552

2012

Volltextzugriff (PDF)

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

American journal of human genetics, 2011-08, Vol.89 (2), p.219-230

2011

Volltextzugriff (PDF)

20 Discovery of Novel African American Genetic Risk Factors for Breast Cancer by Analyzing Whole Genome Sequencing Data of the Alabama Hereditary Cancer Cohort

Journal of clinical and translational science, 2023-04, Vol.7 (s1), p.6-6

2023

Volltextzugriff (PDF)

A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans

Veterinary medicine and science, 2017-05, Vol.3 (2), p.51-62

2017

Volltextzugriff (PDF)

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review

American journal of medical genetics. Part A, 2016-05, Vol.170A (5), p.1225-1235

2016

Volltextzugriff (PDF)

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada

European heart journal, 2013-04, Vol.34 (13), p.1002-1011

2013

Volltextzugriff (PDF)

Whole genome sequencing for the investigation of canine mammary tumor inheritance - an initial assessment of high-risk breast cancer genes reveal BRCA2 and STK11 variants potentially associated with risk in purebred dogs

Canine medicine and genetics, 2020-06, Vol.7 (1), p.1-13, Article 8

2020

Volltextzugriff (PDF)

Establishment of the Alabama Hereditary Cancer Cohort ‐ strategies for the inclusion of underrepresented populations in cancer genetics research

Molecular genetics & genomic medicine, 2018-09, Vol.6 (5), p.766-778

2018

Volltextzugriff (PDF)

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

European journal of human genetics : EJHG, 2009-05, Vol.17 (5), p.554-564

2009

Volltextzugriff (PDF)

Abstract A011: Whole genome sequencing of the Alabama Hereditary Cancer Cohort to identify African American breast cancer genetic risk variants

Cancer epidemiology, biomarkers & prevention, 2023-01, Vol.32 (1_Supplement), p.A011-A011

2023

Volltextzugriff (PDF)

Abstract 5686: Identifying rare microRNA risk variants for hereditary breast cancer in African American individuals

Cancer research (Chicago, Ill.), 2024-03, Vol.84 (6_Supplement), p.5686-5686

2024

Volltextzugriff (PDF)

Absence of bovine leukemia virus in the buffy coats of breast cancer cases from Alabama, USA

Microbial pathogenesis, 2021-12, Vol.161 (Pt A), p.105238-105238, Article 105238

2021

Volltextzugriff (PDF)

1 – 25 von 49

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(47)
Mit Volltextzugriff
(45)

Publikationsform

Sprache

Englisch
(49)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Gene panel screening for insight towards breast cancer susceptibility in different ethnicities

A Review of Whole-Exome Sequencing Efforts Toward Hereditary Breast Cancer Susceptibility Gene Discovery

A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk

Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

Arrhythmogenic Right Ventricular Cardiomyopathy Type 5 Is a Fully Penetrant, Lethal Arrhythmic Disorder Caused by a Missense Mutation in the TMEM43 Gene

Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia

Gain-of-function missense variant in SLC12A2 , encoding the bumetanide-sensitive NKCC1 cotransporter, identified in human schizophrenia

Extra-Virgin Olive Oil Enhances the Blood-Brain Barrier Function in Mild Cognitive Impairment: A Randomized Controlled Trial

An investigation into the role of inherited CEACAM gene family variants and colorectal cancer risk

CEACAM Gene Family Mutations Associated With Inherited Breast Cancer Risk - A Comparative Oncology Approach to Discovery

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

Lower frequency of TLR9 variant associated with protection from breast cancer among African Americans

Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

20 Discovery of Novel African American Genetic Risk Factors for Breast Cancer by Analyzing Whole Genome Sequencing Data of the Alabama Hereditary Cancer Cohort

A monograph proposing the use of canine mammary tumours as a model for the study of hereditary breast cancer susceptibility genes in humans

A de novo frameshift mutation in chromodomain helicase DNA-binding domain 8 (CHD8): A case report and literature review

Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada

Whole genome sequencing for the investigation of canine mammary tumor inheritance - an initial assessment of high-risk breast cancer genes reveal BRCA2 and STK11 variants potentially associated with risk in purebred dogs

Establishment of the Alabama Hereditary Cancer Cohort ‐ strategies for the inclusion of underrepresented populations in cancer genetics research

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15

Abstract A011: Whole genome sequencing of the Alabama Hereditary Cancer Cohort to identify African American breast cancer genetic risk variants

Abstract 5686: Identifying rare microRNA risk variants for hereditary breast cancer in African American individuals

Absence of bovine leukemia virus in the buffy coats of breast cancer cases from Alabama, USA

Suchergebnisse filtern