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 Calcium Signaling Abnormalities in the Central Nervous System: Seizures, Migraine, and Autism

Annals of the New York Academy of Sciences, 2009-01, Vol.1151 (1), p.133-156

Gargus, J. Jay

2009

Volltextzugriff (PDF)

Channelopathy pathogenesis in autism spectrum disorders

Frontiers in genetics, 2013-11, Vol.4, p.222-222

2013

Volltextzugriff (PDF)

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Genetics in medicine, 2016-05, Vol.18 (5), p.452-458

2016

Volltextzugriff (PDF)

Disruption of Transient Serotonin Accumulation by Non-Serotonin-Producing Neurons Impairs Cortical Map Development

Cell reports (Cambridge), 2015-01, Vol.10 (3), p.346-358

2015

Volltextzugriff (PDF)

Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100663-100663, Article 100663

2020

Volltextzugriff (PDF)

Serotonin targets the DAF-16/FOXO signaling pathway to modulate stress responses

Cell metabolism, 2006-12, Vol.4 (6), p.429-440

2006

Volltextzugriff (PDF)

Novel Mutation Confirms Seizure Locus SCN1A is Also Familial Hemiplegic Migraine Locus FHM3

Pediatric neurology, 2007-12, Vol.37 (6), p.407-410

2007

Volltextzugriff (PDF)

Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

European journal of pediatrics, 2002-07, Vol.161 (7), p.377-379

2002

Volltextzugriff (PDF)

Ion Channel Functional Candidate Genes in Multigenic Neuropsychiatric Disease

Biological psychiatry (1969), 2006-07, Vol.60 (2), p.177-185

Gargus, J. Jay

2006

Volltextzugriff (PDF)

ATP1A2 : un facteur essentiel dans la migraine hémiplégique familiale

M.S. Médecine sciences, 2006-04, Vol.22 (4), p.341-343

2006

Volltextzugriff (PDF)

High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder

Scientific reports, 2017-02, Vol.7 (1), p.40740-40740, Article 40740

2017

Volltextzugriff (PDF)

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

Orphanet journal of rare diseases, 2017-02, Vol.12 (1), p.25-25, Article 25

2017

Volltextzugriff (PDF)

An Apamin- and Scyllatoxin-Insensitive Isoform of the Human SK3 Channel

Molecular pharmacology, 2004-03, Vol.65 (3), p.788-801

2004

Volltextzugriff (PDF)

Relative Carnitine Deficiency in Autism

Journal of autism and developmental disorders, 2004-12, Vol.34 (6), p.615-623

2004

Volltextzugriff (PDF)

SK3-1C, a Dominant-negative Suppressor of SKCa and IKCa Channels

The Journal of biological chemistry, 2004-02, Vol.279 (8), p.6893-6904

2004

Volltextzugriff (PDF)

Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone

Journal of human genetics, 2003-08, Vol.48 (8), p.415-419

2003

Volltextzugriff (PDF)

Unraveling Monogenic Channelopathies and Their Implications for Complex Polygenic Disease

American journal of human genetics, 2003-04, Vol.72 (4), p.785-803

Gargus, J. Jay

2003

Volltextzugriff (PDF)

Mitochondrial Energy-Deficient Endophenotype in Autism

American journal of biochemistry and biotechnology, 2008-02, Vol.4 (2), p.198-207

2008

Volltextzugriff (PDF)

Alterations in the α2 Isoform of Na, K-ATPase Associated with Familial Hemiplegic Migraine Type 2

Proceedings of the National Academy of Sciences - PNAS, 2005-08, Vol.102 (31), p.11106-11111

2005

Volltextzugriff (PDF)

Mitochondrial dysfunction in autistic patients with 15q inverted duplication

Annals of neurology, 2003-06, Vol.53 (6), p.801-804

2003

Volltextzugriff (PDF)

Design and Characterization of a Highly Selective Peptide Inhibitor of the Small Conductance Calcium-activated K+Channel, SkCa2

The Journal of biological chemistry, 2001-11, Vol.276 (46), p.43145-43151

2001

Volltextzugriff (PDF)

Phenotype and genotype variation in primary carnitine deficiency

Genetics in medicine, 2001-11, Vol.3 (6), p.387-392

2001

Volltextzugriff (PDF)

Nuclear Localization and Dominant-negative Suppression by a Mutant SKCa3 N-terminal Channel Fragment Identified in a Patient with Schizophrenia

The Journal of biological chemistry, 2001-07, Vol.276 (30), p.27753-27756

2001

Volltextzugriff (PDF)

ATP1A2: a key player in familial hemiplegic migraine

M.S. Médecine sciences, 2006-04, Vol.22 (4), p.341-343

2006

Volltextzugriff (PDF)

Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency: 2-year follow-up data

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S63-S63

2016

Volltextzugriff (PDF)

1 – 25 von 60

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(52)
Mit Volltextzugriff
(58)

Publikationsform

Sprache

Englisch
(58)
Französisch
(2)

Erscheinungsjahr

n.n

Thema

Science & Technology
(32)
Life Sciences & Biomedicine
(28)
Humans
(27)
Animals
(14)
Biological And Medical Sciences
(13)
Female
(13)
Genetics & Heredity
(11)
Male
(11)
Medical Sciences
(11)
Mutation
(7)
Calcium
(6)
Child, Preschool
(6)
Mice
(6)
Molecular Sequence Data
(6)
Small-Conductance Calcium-Activated Potassium Channels
(6)
Transfection
(6)
Alleles
(5)
Amino Acid Sequence
(5)
Autism
(5)
Biochemistry & Molecular Biology
(5)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Genetic Calcium Signaling Abnormalities in the Central Nervous System: Seizures, Migraine, and Autism

Channelopathy pathogenesis in autism spectrum disorders

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Disruption of Transient Serotonin Accumulation by Non-Serotonin-Producing Neurons Impairs Cortical Map Development

Diffuse large B-cell non-Hodgkin's lymphoma in Gaucher disease

Serotonin targets the DAF-16/FOXO signaling pathway to modulate stress responses

Novel Mutation Confirms Seizure Locus SCN1A is Also Familial Hemiplegic Migraine Locus FHM3

Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

Ion Channel Functional Candidate Genes in Multigenic Neuropsychiatric Disease

ATP1A2 : un facteur essentiel dans la migraine hémiplégique familiale

High-throughput screen detects calcium signaling dysfunction in typical sporadic autism spectrum disorder

Survival in infants treated with sebelipase Alfa for lysosomal acid lipase deficiency: an open-label, multicenter, dose-escalation study

An Apamin- and Scyllatoxin-Insensitive Isoform of the Human SK3 Channel

Relative Carnitine Deficiency in Autism

SK3-1C, a Dominant-negative Suppressor of SKCa and IKCa Channels

Identification of a novel candidate gene in the iron-sulfur pathway implicated in ataxia-susceptibility: human gene encoding HscB, a J-type co-chaperone

Unraveling Monogenic Channelopathies and Their Implications for Complex Polygenic Disease

Mitochondrial Energy-Deficient Endophenotype in Autism

Alterations in the α2 Isoform of Na, K-ATPase Associated with Familial Hemiplegic Migraine Type 2

Mitochondrial dysfunction in autistic patients with 15q inverted duplication

Design and Characterization of a Highly Selective Peptide Inhibitor of the Small Conductance Calcium-activated K+Channel, SkCa2

Phenotype and genotype variation in primary carnitine deficiency

Nuclear Localization and Dominant-negative Suppression by a Mutant SKCa3 N-terminal Channel Fragment Identified in a Patient with Schizophrenia

ATP1A2: a key player in familial hemiplegic migraine

Effect of sebelipase alfa on survival and liver function in infants with rapidly progressive lysosomal acid lipase deficiency: 2-year follow-up data

Suchergebnisse filtern