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...

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

Nature genetics, 2010-10, Vol.42 (10), p.851-858

2010

Volltextzugriff (PDF)

A systematic review on the biochemical threshold of mitochondrial genetic variants

Genome research, 2024-04, Vol.34 (3), p.341

2024

Volltextzugriff (PDF)

Metabolic disease in the Pacific: Lessons for indigenous populations

Journal of inherited metabolic disease, 2022-09, Vol.45 (5), p.919-925

Wilson, Callum

2022

Volltextzugriff (PDF)

Can untreated PKU patients escape from intellectual disability? A systematic review

Orphanet journal of rare diseases, 2018-08, Vol.13 (1), p.149-149, Article 149

2018

Volltextzugriff (PDF)

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

Frontiers in neuroscience, 2023-04, Vol.17, p.1123327

2023

Volltextzugriff (PDF)

The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

American journal of human genetics, 2007-07, Vol.81 (1), p.136-146

2007

Volltextzugriff (PDF)

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.305-308

2016

Volltextzugriff (PDF)

Classifying Intelligence in Machines: A Taxonomy of Intelligent Control

Robotics (Basel), 2020-09, Vol.9 (3), p.64

2020

Volltextzugriff (PDF)

The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening

JIMD reports, 2023-03, Vol.64 (2), p.180-186

2023

Volltextzugriff (PDF)

Enabling intelligent onboard guidance, navigation, and control using reinforcement learning on near-term flight hardware

Acta astronautica, 2022-10, Vol.199, p.374-385

2022

Volltextzugriff (PDF)

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

Nutrients, 2019-10, Vol.11 (11), p.2572

2019

Volltextzugriff (PDF)

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma

Human reproduction (Oxford), 2006-10, Vol.21 (10), p.2467-2473

2006

Volltextzugriff (PDF)

Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans

Disease models & mechanisms, 2018-11, Vol.11 (11)

2018

Volltextzugriff (PDF)

The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment

Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.409-414

2016

Volltextzugriff (PDF)

Preparation of elastomeric nanocomposites using nanocellulose and recycled alum sludge for flexible dielectric materials

Journal of advanced dielectrics, 2023-02, Vol.13 (1)

2023

Volltextzugriff (PDF)

Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase ( PRKAG2), Not by Phosphorylase Kinase Deficiency

American journal of human genetics, 2005, Vol.76 (6), p.1034-1049

2005

Volltextzugriff (PDF)

Genotype–phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations

JIMD reports, 2022-07, Vol.63 (4), p.322-329

2022

Volltextzugriff (PDF)

Comparison of early outcomes of arthroscopic labral repair or debridement : a study using the UK Non-Arthroplasty Hip Registry dataset

Bone & joint open, 2022-04, Vol.3 (4), p.291-301

2022

Volltextzugriff (PDF)

Revisiting the handaxes of Kent's Cavern

Quaternary international, 2024-03, Vol.685, p.1-13

2024

Volltextzugriff (PDF)

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

Human mutation, 2012-08, Vol.33 (8), p.1207-1215

2012

Volltextzugriff (PDF)

Intellectual functioning in alpha‐mannosidosis

JIMD reports, 2019-11, Vol.50 (1), p.44-49

2019

Volltextzugriff (PDF)

BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency

Annals of clinical biochemistry, 2012-03, Vol.49 (Pt 2), p.201-203

2012

Volltextzugriff (PDF)

Improving the efficiency of reinforcement learning for a spacecraft powered descent with Q-learning

Optimization and engineering, 2023-03, Vol.24 (1), p.223-255

2023

Volltextzugriff (PDF)

Salicylate intoxication from teething gel in infancy

Medical journal of Australia, 2011-02, Vol.194 (3), p.146-148

2011

Volltextzugriff (PDF)

Reduced half-life of holocarboxylase synthetase from patients with severe Multiple Carboxylase Deficiency

Human mutation, 2008-06, Vol.29 (6), p.E47-E57

2008

Volltextzugriff (PDF)

1 – 25 von 154

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(134)
Mit Volltextzugriff
(127)

Publikationsform

2 weitere anzeigen...

Weniger anzeigen...

Sprache

Englisch
(154)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

A systematic review on the biochemical threshold of mitochondrial genetic variants

Metabolic disease in the Pacific: Lessons for indigenous populations

Can untreated PKU patients escape from intellectual disability? A systematic review

Novel patients with NHLRC2 variants expand the phenotypic spectrum of FINCA disease

The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter

Brain dopamine-serotonin vesicular transport disease presenting as a severe infantile hypotonic parkinsonian disorder

Classifying Intelligence in Machines: A Taxonomy of Intelligent Control

The risk of classical galactosaemia in newborns with borderline galactose metabolites on newborn screening

Enabling intelligent onboard guidance, navigation, and control using reinforcement learning on near-term flight hardware

Untreated PKU Patients without Intellectual Disability: What Do They Teach Us?

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma

Modelling brain dopamine-serotonin vesicular transport disease in Caenorhabditis elegans

The natural history of elevated tetradecenoyl-L-carnitine detected by newborn screening in New Zealand: implications for very long chain acyl-CoA dehydrogenase deficiency screening and treatment

Preparation of elastomeric nanocomposites using nanocellulose and recycled alum sludge for flexible dielectric materials

Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase ( PRKAG2), Not by Phosphorylase Kinase Deficiency

Genotype–phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations

Comparison of early outcomes of arthroscopic labral repair or debridement : a study using the UK Non-Arthroplasty Hip Registry dataset

Revisiting the handaxes of Kent's Cavern

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase

Intellectual functioning in alpha‐mannosidosis

BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency

Improving the efficiency of reinforcement learning for a spacecraft powered descent with Q-learning

Salicylate intoxication from teething gel in infancy

Reduced half-life of holocarboxylase synthetase from patients with severe Multiple Carboxylase Deficiency

Suchergebnisse filtern