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...

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency

Journal of inherited metabolic disease, 2015-01, Vol.38 (1), p.145-156

2015

Volltextzugriff (PDF)

The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation

International journal of molecular sciences, 2022-02, Vol.23 (5), p.2517

2022

Volltextzugriff (PDF)

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

American journal of human genetics, 2006-02, Vol.78 (2), p.345-349

2006

Volltextzugriff (PDF)

Wilms tumor in patients with osteopathia striata with cranial sclerosis

European journal of human genetics : EJHG, 2021-03, Vol.29 (3), p.396-401

2021

Volltextzugriff (PDF)

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients

Cancers, 2021-12, Vol.13 (24), p.6336

2021

Volltextzugriff (PDF)

Ambra1 deficiency impairs mitophagy in skeletal muscle

Journal of cachexia, sarcopenia and muscle, 2022-08, Vol.13 (4), p.2211-2224

2022

Volltextzugriff (PDF)

Genetics of Coenzyme Q10 Deficiency

Molecular syndromology, 2014-07, Vol.5 (3-4), p.156-162

2014

Volltextzugriff (PDF)

Expanding the mutational spectrum of LZTR1 in schwannomatosis

European journal of human genetics : EJHG, 2015-07, Vol.23 (7), p.963-968

2015

Volltextzugriff (PDF)

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis

Biochimica et biophysica acta. Molecular and cell biology of lipids, 2014-11, Vol.1841 (11), p.1628-1638

2014

Volltextzugriff (PDF)

Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study

Cancers, 2022-03, Vol.14 (6), p.1423

2022

Volltextzugriff (PDF)

A Misdiagnosed Familiar Brooke-Spiegler Syndrome: Case Report and Review of the Literature

Journal of clinical medicine, 2024-04, Vol.13 (8), p.2240

2024

Volltextzugriff (PDF)

Vitamin K2 cannot substitute Coenzyme Q10 as electron carrier in the mitochondrial respiratory chain of mammalian cells

Scientific reports, 2019-04, Vol.9 (1), p.6553-6553, Article 6553

2019

Volltextzugriff (PDF)

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants

Cancers, 2021-02, Vol.13 (5), p.999

2021

Volltextzugriff (PDF)

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature

Audiology research (Pavia, Italy), 2021-12, Vol.11 (4), p.582-593

2021

Volltextzugriff (PDF)

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

Human molecular genetics, 2007-05, Vol.16 (9), p.1091-1097

2007

Volltextzugriff (PDF)

Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay

Clinical chemistry and laboratory medicine, 2015-10, Vol.53 (11), p.1719

2015

Volltextzugriff (PDF)

The Conserved Mitochondrial Twin Cx9C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis

The Journal of biological chemistry, 2010-05, Vol.285 (20), p.15088-15099

2010

Volltextzugriff (PDF)

Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations

The Journal of biological chemistry, 2009-10, Vol.284 (42), p.28926-28934

2009

Volltextzugriff (PDF)

Clinical syndromes associated with Coenzyme Q10 deficiency

Essays in biochemistry, 2018-07, Vol.62 (3), p.377-398

2018

Volltextzugriff (PDF)

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis

Biochemical and biophysical research communications, 2008-07, Vol.372 (1), p.35-39

2008

Volltextzugriff (PDF)

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

Clinical biochemistry, 2008-06, Vol.41 (9), p.697-700

2008

Volltextzugriff (PDF)

Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome

Journal of dermatological science, 2015-05, Vol.78 (2), p.158-160

2015

Volltextzugriff (PDF)

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations

Orphanet journal of rare diseases, 2012-04, Vol.7 (1), p.21-21, Article 21

2012

Volltextzugriff (PDF)

Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency

Journal of human genetics, 2009-07, Vol.54 (7), p.419-421

2009

Volltextzugriff (PDF)

1 – 25 von 114

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(109)
Mit Volltextzugriff
(106)

Publikationsform

Sprache

Englisch
(114)
Japanisch
(14)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(5)

Menü

Weitere Dienste

Einstellungen

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency

The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation

A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency

Wilms tumor in patients with osteopathia striata with cranial sclerosis

Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients

Ambra1 deficiency impairs mitophagy in skeletal muscle

Genetics of Coenzyme Q10 Deficiency

Expanding the mutational spectrum of LZTR1 in schwannomatosis

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis

Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study

A Misdiagnosed Familiar Brooke-Spiegler Syndrome: Case Report and Review of the Literature

Vitamin K2 cannot substitute Coenzyme Q10 as electron carrier in the mitochondrial respiratory chain of mammalian cells

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants

DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance

Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis

Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay

The Conserved Mitochondrial Twin Cx9C Protein Cmc2 Is a Cmc1 Homologue Essential for Cytochrome c Oxidase Biogenesis

Functional Complementation in Yeast Allows Molecular Characterization of Missense Argininosuccinate Lyase Mutations

Clinical syndromes associated with Coenzyme Q10 deficiency

Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis

Analysis of coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations

Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency

Suchergebnisse filtern