UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 46

Sortiert nach

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Genome medicine, 2021-03, Vol.13 (1), p.40-40, Article 40

2021

Volltextzugriff (PDF)

Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate

Diabetes (New York, N.Y.), 2019-04, Vol.68 (4), p.709-723

2019

Volltextzugriff (PDF)

ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing

Nature communications, 2022-09, Vol.13 (1), p.5750-5750, Article 5750

2022

Volltextzugriff (PDF)

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

Stem cell reports, 2019-04, Vol.12 (4), p.696-711

2019

Volltextzugriff (PDF)

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

BMC genomics, 2014-12, Vol.15 (1), p.1090-1090

2014

Volltextzugriff (PDF)

A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy

Biomedicines, 2022-12, Vol.10 (12), p.3171

2022

Volltextzugriff (PDF)

Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitro

STAR protocols, 2021-06, Vol.2 (2), p.100528-100528, Article 100528

2021

Volltextzugriff (PDF)

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

Frontiers in neurology, 2021-03, Vol.12, p.652590

2021

Volltextzugriff (PDF)

RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis

Nature communications, 2018-09, Vol.9 (1), p.1-11, Article 3966

2018

Volltextzugriff (PDF)

PARKIN is not required to sustain OXPHOS function in adult mammalian tissues

NPJ Parkinson's Disease, 2024-04, Vol.10 (1), p.93-93, Article 93

2024

Volltextzugriff (PDF)

An international classification of inherited metabolic disorders (ICIMD)

Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.164-177

2021

Volltextzugriff (PDF)

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

Human mutation, 2024, Vol.2024, p.1-16

2024

Volltextzugriff (PDF)

Human In Vitro Models of Neuroenergetics and Neurometabolic Disturbances: Current Advances and Clinical Perspectives

Stem cells translational medicine, 2024-06, Vol.13 (6), p.505-514

2024

Volltextzugriff (PDF)

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

Journal of medical genetics, 2015-11, Vol.52 (11), p.779-783

2015

Volltextzugriff (PDF)

Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly

Nucleic acids research, 2021-01, Vol.49 (1), p.354

2021

Volltextzugriff (PDF)

Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain

The Journal of pediatrics, 2021-01, Vol.228, p.240-251.e2

2021

Volltextzugriff (PDF)

Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7

Human mutation, 2021-04, Vol.42 (4), p.378-384

2021

Volltextzugriff (PDF)

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Brain (London, England : 1878), 2023-04, Vol.146 (4), p.1357-1372

2023

Volltextzugriff (PDF)

Increased mitochondrial Ca 2+ and decreased sarcoplasmic reticulum Ca 2+ in mitochondrial myopathy

Human molecular genetics, 2009-01, Vol.18 (2), p.278-288

2009

Volltextzugriff (PDF)

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations

Neurology, 2018-10, Vol.91 (15), p.710

2018

Volltextzugriff (PDF)

SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia

Neurology. Genetics, 2020-08, Vol.6 (4), p.e478-e478

2020

Volltextzugriff (PDF)

J10 Chorea, psychotic symptoms and long survival in a subject with ELAC2 mutations

Journal of neurology, neurosurgery and psychiatry, 2016-09, Vol.87 (Suppl 1), p.A78-A79

2016

Volltextzugriff (PDF)

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3

Neurology. Genetics, 2023-12, Vol.9 (6), p.e200100-e200100

2023

Volltextzugriff (PDF)

1 – 25 von 46

Suche als RSS-Feed

Aktive Filter

ThemaAnimals

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(42)
Mit Volltextzugriff
(42)

Publikationsform

Sprache

Englisch
(46)
Japanisch
(7)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients

Absence of TXNIP in Humans Leads to Lactic Acidosis and Low Serum Methionine Linked to Deficient Respiration on Pyruvate

ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing

SQSTM1/p62-Directed Metabolic Reprogramming Is Essential for Normal Neurodifferentiation

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy

Protocol for the derivation, culturing, and differentiation of human iPS-cell-derived neuroepithelial stem cells to study neural differentiation in vitro

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

RNA modification landscape of the human mitochondrial tRNALys regulates protein synthesis

PARKIN is not required to sustain OXPHOS function in adult mammalian tissues

An international classification of inherited metabolic disorders (ICIMD)

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

Human In Vitro Models of Neuroenergetics and Neurometabolic Disturbances: Current Advances and Clinical Perspectives

Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4–dihydroxybensoic acid

Human GTPBP5 is involved in the late stage of mitoribosome large subunit assembly

Neu-Laxova Syndrome Is a Heterogeneous Metabolic Disorder Caused by Defects in Enzymes of the L-Serine Biosynthesis Pathway

Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain

Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7

ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy

Increased mitochondrial Ca 2+ and decreased sarcoplasmic reticulum Ca 2+ in mitochondrial myopathy

Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

Chorea, psychosis, acanthocytosis, and prolonged survival associated with ELAC2 mutations

SLC12A2 mutations cause NKCC1 deficiency with encephalopathy and impaired secretory epithelia

J10 Chorea, psychotic symptoms and long survival in a subject with ELAC2 mutations

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3

Aktive Filter

Suchergebnisse filtern