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...

Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions

Frontiers in psychiatry, 2019-09, Vol.10, p.647-647

2019

Volltextzugriff (PDF)

Editorial: Insights in neurogenomics: 2022

Frontiers in genetics, 2023-08, Vol.14, p.1252582-1252582

2023

Volltextzugriff (PDF)

Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia

Nature communications, 2016-08, Vol.7 (1), p.12642-12642, Article 12642

2016

Volltextzugriff (PDF)

Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)

European journal of human genetics : EJHG, 2016-08, Vol.24 (9), p.1235-1243

2016

Volltextzugriff (PDF)

Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

American journal of human genetics, 2012-06, Vol.90 (6), p.941-949

2012

Volltextzugriff (PDF)

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data

Scientific reports, 2022-04, Vol.12 (1), p.6556-6556, Article 6556

2022

Volltextzugriff (PDF)

CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models

PLoS computational biology, 2021-01, Vol.17 (1), p.e1008550-e1008550

2021

Volltextzugriff (PDF)

Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies

Clinica chimica acta, 2017-03, Vol.466, p.105-111

2017

Volltextzugriff (PDF)

Correction: CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models

PLoS computational biology, 2021-10, Vol.17 (10), p.e1009551-e1009551

2021

Volltextzugriff (PDF)

Genome analysis and pleiotropy assessment using causal networks with loss of function mutation and metabolomics

BMC genomics, 2019-05, Vol.20 (1), p.395-395, Article 395

2019

Volltextzugriff (PDF)

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet

PloS one, 2017-09, Vol.12 (9), p.e0184022-e0184022

2017

Volltextzugriff (PDF)

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

The Journal of pediatrics, 2016-02, Vol.169, p.208-213.e2

2016

Volltextzugriff (PDF)

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report

BMC neurology, 2024-03, Vol.24 (1), p.87-87, Article 87

2024

Volltextzugriff (PDF)

Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder

International journal of molecular sciences, 2015-04, Vol.16 (4), p.7627-7643

2015

Volltextzugriff (PDF)

Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome

Genetics in Medicine Open, 2024, Vol.2, p.101857, Article 101857

2024

Volltextzugriff (PDF)

Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis

Frontiers in genetics, 2024-06, Vol.15, p.1405468

2024

Volltextzugriff (PDF)

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism

JAMA network open, 2021-07, Vol.4 (7), p.e2114155-e2114155

2021

Volltextzugriff (PDF)

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency

American journal of medical genetics. Part A, 2019-05, Vol.179 (5), p.803-807

2019

Volltextzugriff (PDF)

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

Scientific reports, 2021-05, Vol.11 (1), p.11295-12, Article 11295

2021

Volltextzugriff (PDF)

Differential expression of MAGEA6 toggles autophagy to promote pancreatic cancer progression

eLife, 2020-04, Vol.9

2020

Volltextzugriff (PDF)

An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder

International journal of molecular sciences, 2020-11, Vol.21 (23), p.9029

2020

Volltextzugriff (PDF)

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Frontiers in neuroscience, 2019-05, Vol.13, p.394-394

2019

Volltextzugriff (PDF)

Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency

Journal of child neurology, 2021-11, Vol.36 (13-14), p.1218-1222

2021

Volltextzugriff (PDF)

Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver-Brain Axis for Lipid Homeostasis

Metabolites, 2022-04, Vol.12 (4), p.351

2022

Volltextzugriff (PDF)

1 – 25 von 220

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(202)
Mit Volltextzugriff
(211)

Publikationsform

Sprache

Englisch
(220)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Untargeted Metabolomics for Autism Spectrum Disorders: Current Status and Future Directions

Editorial: Insights in neurogenomics: 2022

Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia

Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)

Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity

Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data

CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models

Analytes related to erythrocyte metabolism are reliable biomarkers for preanalytical error due to delayed plasma processing in metabolomics studies

Correction: CTD: An information-theoretic algorithm to interpret sets of metabolomic and transcriptomic perturbations in the context of graphical models

Genome analysis and pleiotropy assessment using causal networks with loss of function mutation and metabolomics

Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report

Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder

Blind to the perils of pursuing food: Behaviors of individuals with Smith-Magenis Syndrome

Succinic semialdehyde dehydrogenase deficiency: a metabolic and genomic approach to diagnosis

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism

Case report and novel treatment of an autosomal recessive Leigh syndrome caused by short‐chain enoyl‐CoA hydratase deficiency

Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes

Differential expression of MAGEA6 toggles autophagy to promote pancreatic cancer progression

An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency

Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver-Brain Axis for Lipid Homeostasis

Suchergebnisse filtern