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...

Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells

PloS one, 2015-09, Vol.10 (9), p.e0133813-e0133813

2015

Volltextzugriff (PDF)

P067: A descriptive study of the phenotype in individuals with a pathogenic/likely pathogenic intronic variant discovered by RNA sequencing

Genetics in Medicine Open, 2024, Vol.2, p.100949, Article 100949

2024

Volltextzugriff (PDF)

Aggregation of multiple sclerosis genetic risk variants in multiple and single case families

Annals of neurology, 2011-01, Vol.69 (1), p.65-74

2011

Volltextzugriff (PDF)

Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency

Frontiers in immunology, 2022-06, Vol.13, p.906540-906540

2022

Volltextzugriff (PDF)

Cluster randomised trial of a school-community child health promotion and obesity prevention intervention: findings from the evaluation of fun 'n healthy in Moreland

BMC public health, 2017-08, Vol.18 (1), p.92-92, Article 92

2017

Volltextzugriff (PDF)

P685: Assessing the variant landscape in patients: An emerging partnership between biopharmaceutical companies and commercial laboratories

Genetics in Medicine Open, 2024, Vol.2, p.101589, Article 101589

2024

Volltextzugriff (PDF)

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

Frontiers in neurology, 2021-05, Vol.12, p.663911-663911

2021

Volltextzugriff (PDF)

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

Epilepsia open, 2019-09, Vol.4 (3), p.397-408

2019

Volltextzugriff (PDF)

P071: Utility of RNA analysis in genetic testing for hereditary cancer is highly similar between large cohorts from two independent laboratories

Genetics in Medicine Open, 2024, Vol.2, p.100953, Article 100953

2024

Volltextzugriff (PDF)

P073: Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification

Genetics in Medicine Open, 2024, Vol.2, p.100955, Article 100955

2024

Volltextzugriff (PDF)

O31: The landscape of variant reclassification: Learnings from over 2 million classified variants in over 3.6 million individuals

Genetics in Medicine Open, 2024, Vol.2, p.101472, Article 101472

2024

Volltextzugriff (PDF)

Expanding Children’s Food Experiences: The Impact of a School-Based Kitchen Garden Program

Journal of nutrition education and behavior, 2013-03, Vol.45 (2), p.137-146

2013

Volltextzugriff (PDF)

STAT3 gain-of-function mutation in a patient with pulmonary Mycobacterium abscessus infection

Respiratory medicine case reports, 2020-01, Vol.30, p.101125, Article 101125

2020

Volltextzugriff (PDF)

Operation-related Musculoskeletal Injuries among United States Surgeons: A Gender-stratified National Survey

Plastic and reconstructive surgery. Global open, 2022-02, Vol.10 (2), p.e4142-e4142

2022

Volltextzugriff (PDF)

P277: Modeling cellular evidence: Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant interpretation

Genetics in Medicine Open, 2023, Vol.1 (1), p.100305, Article 100305

2023

Volltextzugriff (PDF)

P164: Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing

Genetics in Medicine Open, 2024, Vol.2, p.101061, Article 101061

2024

Volltextzugriff (PDF)

P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations

Genetics in Medicine Open, 2023, Vol.1 (1), p.100537, Article 100537

2023

Volltextzugriff (PDF)

P244: Developing Bayesian graphical models to provide continuous, probabilistic variant interpretation

Genetics in Medicine Open, 2023, Vol.1 (1), p.100272, Article 100272

2023

Volltextzugriff (PDF)

A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia

Investigative ophthalmology & visual science, 2015-06, Vol.56 (6), p.3776-3787

2015

Volltextzugriff (PDF)

Chronic placental ischemia alters amniotic fluid milieu and results in impaired glucose tolerance, insulin resistance and hyperleptinemia in young rats

Experimental biology and medicine (Maywood, N.J.), 2010-07, Vol.235 (7), p.892-899

2010

Volltextzugriff (PDF)

Diagnosis of Lysosomal Storage Disorders: Gaucher Disease

Current Protocols in Human Genetics, 2014-07, Vol.82 (1), p.17.15.1-17.15.6

2014

Volltextzugriff (PDF)

Scalable detection of technically challenging variants through modified next‐generation sequencing

Molecular genetics & genomic medicine, 2022-12, Vol.10 (12), p.e2072-n/a

2022

Volltextzugriff (PDF)

Tyrosinase is the modifier of retinoschisis in mice

Genetics (Austin), 2010-12, Vol.186 (4), p.1337-1344

2010

Volltextzugriff (PDF)

THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS WHO ARE UNDERGOING TESTING FOR INHERITED METABOLIC DISORDERS

Molecular genetics and metabolism, 2023-03, Vol.138 (3), p.107433, Article 107433

2023

Volltextzugriff (PDF)

Sequencing of the IL6 gene in a case-control study of cerebral palsy in children

BMC medical genetics, 2013-12, Vol.14 (1), p.126-126, Article 126

2013

Volltextzugriff (PDF)

1 – 25 von 315

Suche als RSS-Feed

Aktive Filter

Zeitschrift / SerieJournal Of Geophysical Research: Planets

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(278)
Mit Volltextzugriff
(261)

Publikationsform

4 weitere anzeigen...

Weniger anzeigen...

Sprache

Englisch
(312)
Schwedisch
(3)

Erscheinungsjahr

n.n

Thema

Science & Technology
(153)
Life Sciences & Biomedicine
(117)
Humans
(94)
Female
(61)
Male
(57)
Physical Sciences
(31)
Biological And Medical Sciences
(29)
Adult
(24)
Medical Sciences
(21)
Animals
(18)
Astronomy & Astrophysics
(18)
Child
(16)
Genetics & Heredity
(16)
Middle Aged
(16)
Child, Preschool
(15)
Neurosciences & Neurology
(14)
Mutation
(13)
Genetics
(12)
Exact Sciences And Technology
(11)
Fundamental And Applied Biological Sciences. Psychology
(11)

15 weitere anzeigen...

Weniger anzeigen...

Kollektion

Electronic Journals Library
(129)
Ingenta
(122)
MEDLINE
(119)
Journals@Ovid Full Text
(100)
Wiley-Blackwell Journals
(72)
Elsevier ScienceDirect Journals Complete
(63)
Publisher or Other Site
(58)
IngentaConnect Journals
(53)
Elsevier Journal Backfiles on ScienceDirect (DFG Nationallizenzen)
(37)
Wiley Online Library
(37)
Oxford Journals
(20)
Springer Online Journals
(17)
JSTOR
(16)
Nature
(13)
SAGE Journals
(9)
Nexis Uni
(8)
Taylor & Francis Journals
(8)
Taylor & Francis
(8)
Business Source Ultimate
(7)
SpringerLINK Contemporary (Konsortium Baden-Württemberg)
(6)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 7 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Treatment with a Small Molecule Mutant IDH1 Inhibitor Suppresses Tumorigenic Activity and Decreases Production of the Oncometabolite 2-Hydroxyglutarate in Human Chondrosarcoma Cells

P067: A descriptive study of the phenotype in individuals with a pathogenic/likely pathogenic intronic variant discovered by RNA sequencing

Aggregation of multiple sclerosis genetic risk variants in multiple and single case families

Global Expansion of Jeffrey’s Insights: Jeffrey Modell Foundation’s Genetic Sequencing Program for Primary Immunodeficiency

Cluster randomised trial of a school-community child health promotion and obesity prevention intervention: findings from the evaluation of fun 'n healthy in Moreland

P685: Assessing the variant landscape in patients: An emerging partnership between biopharmaceutical companies and commercial laboratories

SMA Identified: Clinical and Molecular Findings From a Sponsored Testing Program for Spinal Muscular Atrophy in More Than 2,000 Individuals

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy

P071: Utility of RNA analysis in genetic testing for hereditary cancer is highly similar between large cohorts from two independent laboratories

P073: Novel high-throughput functional models for MLH1, MSH2, and PMS2 have high accuracy for clinical variant classification

O31: The landscape of variant reclassification: Learnings from over 2 million classified variants in over 3.6 million individuals

Expanding Children’s Food Experiences: The Impact of a School-Based Kitchen Garden Program

STAT3 gain-of-function mutation in a patient with pulmonary Mycobacterium abscessus infection

Operation-related Musculoskeletal Injuries among United States Surgeons: A Gender-stratified National Survey

P277: Modeling cellular evidence: Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant interpretation

P164: Scalable Bayesian variant interpretation of Lynch syndrome genes using genotype and phenotype data for over 1.5M patients referred for testing

P490: The impact of machine learning algorithms in reducing VUS for individuals from underrepresented populations compared to well studied populations

P244: Developing Bayesian graphical models to provide continuous, probabilistic variant interpretation

A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia

Chronic placental ischemia alters amniotic fluid milieu and results in impaired glucose tolerance, insulin resistance and hyperleptinemia in young rats

Diagnosis of Lysosomal Storage Disorders: Gaucher Disease

Scalable detection of technically challenging variants through modified next‐generation sequencing

Tyrosinase is the modifier of retinoschisis in mice

THE IMPACT OF MACHINE LEARNING MODELS IN REDUCING VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) FOR INDIVIDUALS FROM UNDERREPRESENTED POPULATIONS WHO ARE UNDERGOING TESTING FOR INHERITED METABOLIC DISORDERS

Sequencing of the IL6 gene in a case-control study of cerebral palsy in children

Aktive Filter

Suchergebnisse filtern