UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 61

Sortiert nach

Phenotypic manifestations between male and female children with CDKL5 mutations

Brain & development (Tokyo. 1979), 2019-10, Vol.41 (9), p.783-789

2019

Link zum Volltext

Verfügbarkeit prüfen

Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis

Stem cell reports, 2019-11, Vol.13 (5), p.906-923

2019

Link zum Volltext

Verfügbarkeit prüfen

SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet

Brain & development (Tokyo. 1979), 2018-09, Vol.40 (8), p.724-727

2018

Link zum Volltext

Verfügbarkeit prüfen

Flavonoids from Gynostemma pentaphyllum exhibit differential induction of cell cycle arrest in H460 and A549 cancer cells

Molecules (Basel, Switzerland), 2014-10, Vol.19 (11), p.17663-17681

2014

Link zum Volltext

Verfügbarkeit prüfen

Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy

Children (Basel), 2022-07, Vol.9 (8), p.1105

2022

Link zum Volltext

Verfügbarkeit prüfen

Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis

Stem cell research, 2018-05, Vol.29, p.152-156

2018

Link zum Volltext

Verfügbarkeit prüfen

Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics

Epilepsy & behavior, 2023-08, Vol.145, p.109266-109266, Article 109266

2023

Link zum Volltext

Verfügbarkeit prüfen

Mitochondrial DNA Content Varies with Pathological Characteristics of Breast Cancer

Journal of Oncology, 2011-01, Vol.2011, p.496189-10

2011

Link zum Volltext

Verfügbarkeit prüfen

Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy

Nature medicine, 1998-11, Vol.4 (11), p.1261-1268

1998

Link zum Volltext

Verfügbarkeit prüfen

Probing water micro-solvation in proteins by water catalysed proton-transfer tautomerism

Nature communications, 2013-11, Vol.4 (1), p.2611-2611, Article 2611

2013

Link zum Volltext

Verfügbarkeit prüfen

Antiproliferation Effect and Apoptosis Mechanism of Prostate Cancer Cell PC-3 by Flavonoids and Saponins Prepared from Gynostemma pentaphyllum

Journal of agricultural and food chemistry, 2011-10, Vol.59 (20), p.11319-11329

2011

Link zum Volltext

Verfügbarkeit prüfen

Unveiling the structural features of nonnative trimers of human superoxide dismutase 1

Biochimica et biophysica acta. General subjects, 2020-03, Vol.1864 (3), p.129483, Article 129483

2020

Link zum Volltext

Verfügbarkeit prüfen

Mutational Analyses on X-Linked Adrenoleukodystrophy Reveal a Novel Cryptic Splicing and Three Missense Mutations in the ABCD1 Gene

Pediatric neurology, 2013-09, Vol.49 (3), p.185-190

2013

Link zum Volltext

Verfügbarkeit prüfen

A Mouse Model for X-Linked Adrenoleukodystrophy

Proceedings of the National Academy of Sciences - PNAS, 1997-08, Vol.94 (17), p.9366-9371

1997

Link zum Volltext

Verfügbarkeit prüfen

A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy

Human molecular genetics, 2003-05, Vol.12 (10), p.1145-1154

2003

Link zum Volltext

Verfügbarkeit prüfen

Peroxisomal disorders with infantile seizures

Brain & development (Tokyo. 1979), 2011-10, Vol.33 (9), p.777-782

2011

Link zum Volltext

Verfügbarkeit prüfen

Homology Modeling and Molecular Dynamics Simulation Combined with X‑ray Solution Scattering Defining Protein Structures of Thromboxane and Prostacyclin Synthases

The journal of physical chemistry. B, 2017-12, Vol.121 (50), p.11229-11240

2017

Link zum Volltext

Verfügbarkeit prüfen

The role of peroxisomal ABC transporters in the mouse adrenal gland: the loss of Abcd2 (ALDR), Not Abcd1 (ALD), causes oxidative damage

Laboratory investigation, 2007-03, Vol.87 (3), p.261-272

2007

Link zum Volltext

Verfügbarkeit prüfen

Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens

Human reproduction (Oxford), 2005-09, Vol.20 (9), p.2470-2475

2005

Link zum Volltext

Verfügbarkeit prüfen

Unveiling the water-associated conformational mobility in the active site of ascorbate peroxidase

Biochimica et biophysica acta. General subjects, 2018-03, Vol.1862 (3), p.451-459

2018

Link zum Volltext

Verfügbarkeit prüfen

The In Situ Tryptophan Analogue Probes the Conformational Dynamics in Asparaginase Isozymes

Biophysical journal, 2016-04, Vol.110 (8), p.1732-1743

2016

Link zum Volltext

Verfügbarkeit prüfen

Disruption of the Saccharomyces cerevisiae FAT1 gene decreases very long-chain fatty acyl-CoA synthetase activity and elevates intracellular very long-chain fatty acid concentrations

The Journal of biological chemistry, 1998-07, Vol.273 (29), p.18210-18219

1998

Link zum Volltext

Verfügbarkeit prüfen

Association of a novel GABRG2 splicing variation and a PTGS2/COX-2 single nucleotide polymorphism with Taiwanese febrile seizures

Epilepsy research, 2017-01, Vol.129, p.1-7

2017

Link zum Volltext

Verfügbarkeit prüfen

Hispidulin inhibits the release of glutamate in rat cerebrocortical nerve terminals

Toxicology and applied pharmacology, 2012-09, Vol.263 (2), p.233-243

2012

Link zum Volltext

Verfügbarkeit prüfen

The azatryptophan-based fluorescent platform for in vitro rapid screening of inhibitors disrupting IKKβ-NEMO interaction

Bioorganic chemistry, 2018-12, Vol.81, p.504-511

2018

Link zum Volltext

Verfügbarkeit prüfen

1 – 25 von 61

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(58)
Mit Volltextzugriff
(56)

Publikationsform

Sprache

Englisch
(61)
Japanisch
(9)

Erscheinungsjahr

n.n

Thema

Science & Technology
(45)
Life Sciences & Biomedicine
(36)
Humans
(24)
Male
(13)
Biochemistry & Molecular Biology
(12)
Chemistry
(12)
Physical Sciences
(12)
Animals
(11)
Adrenoleukodystrophy - Genetics
(10)
Biological And Medical Sciences
(8)
Mice
(8)
Neurosciences & Neurology
(8)
Exact Sciences And Technology
(7)
Female
(7)
Mutation
(7)
Pediatrics
(7)
Technology
(7)
Atp-Binding Cassette Transporters - Genetics
(6)
Cell Biology
(6)
Clinical Neurology
(6)

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Phenotypic manifestations between male and female children with CDKL5 mutations

Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis

SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet

Flavonoids from Gynostemma pentaphyllum exhibit differential induction of cell cycle arrest in H460 and A549 cancer cells

Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy

Generation of induced pluripotent stem cells from a patient with X-linked juvenile retinoschisis

Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics

Mitochondrial DNA Content Varies with Pathological Characteristics of Breast Cancer

Gene redundancy and pharmacological gene therapy: Implications for X-linked adrenoleukodystrophy

Probing water micro-solvation in proteins by water catalysed proton-transfer tautomerism

Antiproliferation Effect and Apoptosis Mechanism of Prostate Cancer Cell PC-3 by Flavonoids and Saponins Prepared from Gynostemma pentaphyllum

Unveiling the structural features of nonnative trimers of human superoxide dismutase 1

Mutational Analyses on X-Linked Adrenoleukodystrophy Reveal a Novel Cryptic Splicing and Three Missense Mutations in the ABCD1 Gene

A Mouse Model for X-Linked Adrenoleukodystrophy

A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy

Peroxisomal disorders with infantile seizures

Homology Modeling and Molecular Dynamics Simulation Combined with X‑ray Solution Scattering Defining Protein Structures of Thromboxane and Prostacyclin Synthases

The role of peroxisomal ABC transporters in the mouse adrenal gland: the loss of Abcd2 (ALDR), Not Abcd1 (ALD), causes oxidative damage

Mutation spectrum of the CFTR gene in Taiwanese patients with congenital bilateral absence of the vas deferens

Unveiling the water-associated conformational mobility in the active site of ascorbate peroxidase

The In Situ Tryptophan Analogue Probes the Conformational Dynamics in Asparaginase Isozymes

Disruption of the Saccharomyces cerevisiae FAT1 gene decreases very long-chain fatty acyl-CoA synthetase activity and elevates intracellular very long-chain fatty acid concentrations

Association of a novel GABRG2 splicing variation and a PTGS2/COX-2 single nucleotide polymorphism with Taiwanese febrile seizures

Hispidulin inhibits the release of glutamate in rat cerebrocortical nerve terminals

The azatryptophan-based fluorescent platform for in vitro rapid screening of inhibitors disrupting IKKβ-NEMO interaction

Suchergebnisse filtern