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...

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Nature communications, 2017-10, Vol.8 (1), p.1052-12, Article 1052

2017

Volltextzugriff (PDF)

Genetic modifiers and oligogenic inheritance

Cold Spring Harbor perspectives in medicine, 2015-06, Vol.5 (6), p.a017145-a017145

2015

Volltextzugriff (PDF)

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

Human molecular genetics, 2010-11, Vol.19 (22), p.4497-4514

2010

Volltextzugriff (PDF)

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

Nature genetics, 2018-04, Vol.50 (4), p.538-548

2018

Volltextzugriff (PDF)

PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia

Nature communications, 2020-11, Vol.11 (1), p.5903-5903, Article 5903

2020

Volltextzugriff (PDF)

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

Human molecular genetics, 2015-10, Vol.24 (20), p.5677-5686

2015

Volltextzugriff (PDF)

P05.12 The first case of genetically proven variant late-infantile neuronal ceroid lipofuscinosis in Bulgaria harbors the founder CLN7/MFSD8 mutation in Roma

European journal of paediatric neurology, 2011-05, Vol.15, p.S52-S52

2011

Volltextzugriff (PDF)

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

Proceedings of the National Academy of Sciences - PNAS, 2014-03, Vol.111 (11), p.4197-4202

2014

Volltextzugriff (PDF)

The steam reforming of acetol on Ni/La2O3-Al2O3 studied by transient and isotopic methods

Catalysis communications, 2023-06, Vol.179, p.106696, Article 106696

2023

Volltextzugriff (PDF)

Glycerol Steam Reforming for Hydrogen Production over Nickel Supported on Alumina, Zirconia and Silica Catalysts

Topics in catalysis, 2017-09, Vol.60 (15-16), p.1226-1250

2017

Volltextzugriff (PDF)

In Situ Observation of Nanoparticle Exsolution from Perovskite Oxides: From Atomic Scale Mechanistic Insight to Nanostructure Tailoring

ACS nano, 2019-11, Vol.13 (11), p.12996-13005

2019

Volltextzugriff (PDF)

Third-order NLO properties and optical limiting behavior of p-toluidinium 2,4-dichlorobenzoate organic single crystal

Spectrochimica acta. Part A, Molecular and biomolecular spectroscopy, 2024-01, Vol.305, p.123527, Article 123527

2024

Volltextzugriff (PDF)

Digital twin for adaptation of robots’ behavior in flexible robotic assembly lines

Procedia manufacturing, 2019, Vol.28, p.121-126

2019

Volltextzugriff (PDF)

Effect of support oxygen storage capacity on the catalytic performance of Rh nanoparticles for CO2 reforming of methane

Applied catalysis. B, Environmental, 2019-04, Vol.243, p.490-501

2019

Volltextzugriff (PDF)

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

American journal of human genetics, 2015-02, Vol.96 (2), p.245-257

2015

Volltextzugriff (PDF)

Enhanced Suicidal Erythrocyte Death Contributing to Anemia in the Elderly

Cellular physiology and biochemistry, 2015-05, Vol.36 (2), p.773-783

2015

Volltextzugriff (PDF)

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

Human genomics, 2019-04, Vol.13 (1), p.19-19, Article 19

2019

Volltextzugriff (PDF)

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

American journal of human genetics, 2017-09, Vol.101 (3), p.466-477

2017

Volltextzugriff (PDF)

Facile one-pot synthesis of ternary Ni-Mn-Zn oxide nanocomposites for high-performance hybrid supercapacitors

Journal of energy storage, 2023-11, Vol.71, p.108176, Article 108176

2023

Volltextzugriff (PDF)

Symmetrical Exsolution of Rh Nanoparticles in Solid Oxide Cells for Efficient Syngas Production from Greenhouse Gases

ACS catalysis, 2020-01, Vol.10 (2), p.1278-1288

2020

Volltextzugriff (PDF)

Support Induced Effects on the Ir Nanoparticles Activity, Selectivity and Stability Performance under CO2 Reforming of Methane

Nanomaterials (Basel, Switzerland), 2021-10, Vol.11 (11), p.2880

2021

Volltextzugriff (PDF)

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

The New England journal of medicine, 2013-05, Vol.368 (21), p.1992-2003

2013

Volltextzugriff (PDF)

1 – 25 von 54

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(49)
Mit Volltextzugriff
(49)

Publikationsform

Sprache

Englisch
(54)
Japanisch
(2)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

Genetic modifiers and oligogenic inheritance

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis

Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

P05.12 The first case of genetically proven variant late-infantile neuronal ceroid lipofuscinosis in Bulgaria harbors the founder CLN7/MFSD8 mutation in Roma

Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

The steam reforming of acetol on Ni/La2O3-Al2O3 studied by transient and isotopic methods

Glycerol Steam Reforming for Hydrogen Production over Nickel Supported on Alumina, Zirconia and Silica Catalysts

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

In Situ Observation of Nanoparticle Exsolution from Perovskite Oxides: From Atomic Scale Mechanistic Insight to Nanostructure Tailoring

Third-order NLO properties and optical limiting behavior of p-toluidinium 2,4-dichlorobenzoate organic single crystal

Digital twin for adaptation of robots’ behavior in flexible robotic assembly lines

Effect of support oxygen storage capacity on the catalytic performance of Rh nanoparticles for CO2 reforming of methane

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Enhanced Suicidal Erythrocyte Death Contributing to Anemia in the Elderly

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

Facile one-pot synthesis of ternary Ni-Mn-Zn oxide nanocomposites for high-performance hybrid supercapacitors

Symmetrical Exsolution of Rh Nanoparticles in Solid Oxide Cells for Efficient Syngas Production from Greenhouse Gases

Support Induced Effects on the Ir Nanoparticles Activity, Selectivity and Stability Performance under CO2 Reforming of Methane

Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

Suchergebnisse filtern