UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 189

Sortiert nach

Molecular findings among patients referred for clinical whole-exome sequencing

JAMA : the journal of the American Medical Association, 2014-11, Vol.312 (18), p.1870

2014

Link zum Volltext

Verfügbarkeit prüfen

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

The Journal of clinical investigation, 2021-01, Vol.131 (1), p.1-13

2021

Link zum Volltext

Verfügbarkeit prüfen

The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism

Cell metabolism, 2015-03, Vol.21 (3), p.417-427

2015

Link zum Volltext

Verfügbarkeit prüfen

Mitochondrial DNA maintenance defects

Biochimica et biophysica acta. Molecular basis of disease, 2017-06, Vol.1863 (6), p.1539-1555

2017

Link zum Volltext

Verfügbarkeit prüfen

Deletion of VDAC1 Hinders Recovery of Mitochondrial and Renal Functions After Acute Kidney Injury

Biomolecules (Basel, Switzerland), 2020-04, Vol.10 (4), p.585

2020

Link zum Volltext

Verfügbarkeit prüfen

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

The Journal of molecular diagnostics : JMD, 2016-05, Vol.18 (3), p.446-453

2016

Link zum Volltext

Verfügbarkeit prüfen

VDAC2 Inhibits BAK Activation and Mitochondrial Apoptosis

Science (American Association for the Advancement of Science), 2003-07, Vol.301 (5632), p.513-517

2003

Link zum Volltext

Verfügbarkeit prüfen

Reduced VDAC1 protects against Alzheimer's disease, mitochondria, and synaptic deficiencies

Journal of Alzheimer's disease, 2013-01, Vol.37 (4), p.679

2013

Link zum Volltext

Verfügbarkeit prüfen

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Brain (London, England : 1878), 2010-07, Vol.133 (7), p.2148-2159

2010

Link zum Volltext

Verfügbarkeit prüfen

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

American journal of human genetics, 2013-09, Vol.93 (3), p.471-481

2013

Link zum Volltext

Verfügbarkeit prüfen

VDAC2 is required for truncated BID-induced mitochondrial apoptosis by recruiting BAK to the mitochondria

EMBO reports, 2009-12, Vol.10 (12), p.1341-1347

2009

Link zum Volltext

Verfügbarkeit prüfen

Properties of the permeability transition in VDAC1 −/− mitochondria

Biochimica et biophysica acta, 2006-05, Vol.1757 (5), p.590-595

2006

Link zum Volltext

Verfügbarkeit prüfen

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

Link zum Volltext

Verfügbarkeit prüfen

Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome

The international journal of biochemistry & cell biology, 2014-03, Vol.48, p.85-91

2014

Link zum Volltext

Verfügbarkeit prüfen

Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects

Human mutation, 2013-06, Vol.34 (6), p.882-893

2013

Link zum Volltext

Verfügbarkeit prüfen

Inhibition of Bak Activation by VDAC2 Is Dependent on the Bak Transmembrane Anchor

The Journal of biological chemistry, 2010-11, Vol.285 (47), p.36876-36883

2010

Link zum Volltext

Verfügbarkeit prüfen

Mitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status Epilepticus

International journal of molecular sciences, 2017-07, Vol.18 (7), p.1502

2017

Link zum Volltext

Verfügbarkeit prüfen

Nek1 regulates cell death and mitochondrial membrane permeability through phosphorylation of VDAC1

Cell cycle (Georgetown, Tex.), 2009-01, Vol.8 (2), p.257-267

2009

Link zum Volltext

Verfügbarkeit prüfen

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

Human molecular genetics, 2009-03, Vol.18 (5), p.861-871

2009

Link zum Volltext

Verfügbarkeit prüfen

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

Genetics in medicine, 2019-04, Vol.21 (4), p.987-993

2019

Link zum Volltext

Verfügbarkeit prüfen

Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy

Circulation (New York, N.Y.), 2005-11, Vol.112 (18), p.2799-2804

2005

Link zum Volltext

Verfügbarkeit prüfen

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

PloS one, 2017-11, Vol.12 (11), p.e0188610-e0188610

2017

Link zum Volltext

Verfügbarkeit prüfen

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Genetics in medicine, 2006-12, Vol.8 (12), p.784-792

2006

Link zum Volltext

Verfügbarkeit prüfen

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes

PloS one, 2010-12, Vol.5 (12), p.e15687

2010

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 189

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(179)
Mit Volltextzugriff
(176)

Publikationsform

Sprache

Englisch
(189)
Japanisch
(46)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Molecular findings among patients referred for clinical whole-exome sequencing

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

The GABA Transaminase, ABAT, Is Essential for Mitochondrial Nucleoside Metabolism

Mitochondrial DNA maintenance defects

Deletion of VDAC1 Hinders Recovery of Mitochondrial and Renal Functions After Acute Kidney Injury

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

VDAC2 Inhibits BAK Activation and Mitochondrial Apoptosis

Reduced VDAC1 protects against Alzheimer's disease, mitochondria, and synaptic deficiencies

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance

VDAC2 is required for truncated BID-induced mitochondrial apoptosis by recruiting BAK to the mitochondria

Properties of the permeability transition in VDAC1 −/− mitochondria

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

Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome

Transition to Next Generation Analysis of the Whole Mitochondrial Genome: A Summary of Molecular Defects

Inhibition of Bak Activation by VDAC2 Is Dependent on the Bak Transmembrane Anchor

Mitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status Epilepticus

Nek1 regulates cell death and mitochondrial membrane permeability through phosphorylation of VDAC1

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future

Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes

Evidences of a Direct Relationship between Cellular Fuel Supply and Ciliogenesis Regulated by Hypoxic VDAC1-ΔC

Suchergebnisse filtern