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...

Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms

Neuroscience and biobehavioral reviews, 2014-10, Vol.46 Pt 2, p.161-174

2014

Volltextzugriff (PDF)

Sequence feature-based prediction of protein stability changes upon amino acid substitutions

BMC genomics, 2010-11, Vol.11 Suppl 2 (Suppl 2), p.S5-S5

2010

Volltextzugriff (PDF)

Integrative genomic analyses for identification and prioritization of long non-coding RNAs associated with autism

PloS one, 2017-05, Vol.12 (5), p.e0178532-e0178532

2017

Volltextzugriff (PDF)

Neurodevelopmental disorder-associated ZBTB20 gene variants affect dendritic and synaptic structure

PloS one, 2018-10, Vol.13 (10), p.e0203760-e0203760

2018

Volltextzugriff (PDF)

Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment

PloS one, 2015-04, Vol.10 (4), p.e0123106-e0123106

2015

Volltextzugriff (PDF)

Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

American journal of human genetics, 2007-02, Vol.80 (2), p.345-352

2007

Volltextzugriff (PDF)

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome

PloS one, 2012-09, Vol.7 (9), p.e45155-e45155

2012

Volltextzugriff (PDF)

Identification of a gene, ABCG5 , important in the regulation of dietary cholesterol absorption

Nature genetics, 2001-01, Vol.27 (1), p.79-83

2001

Volltextzugriff (PDF)

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation

Biology (Basel, Switzerland), 2018-05, Vol.7 (2), p.31

2018

Volltextzugriff (PDF)

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

Proceedings of the National Academy of Sciences - PNAS, 2007-11, Vol.104 (46), p.18163-18168

2007

Volltextzugriff (PDF)

Impurity Behavior in High Performance ADITYA Tokamak Plasmas

Plasma and Fusion Research, 2022/03/30, Vol.17, pp.2402011-2402011

2022

Volltextzugriff (PDF)

Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice

Biology (Basel, Switzerland), 2017-04, Vol.6 (2), p.25

2017

Volltextzugriff (PDF)

Co-expression of long non-coding RNAs and autism risk genes in the developing human brain

BMC systems biology, 2018-12, Vol.12 (Suppl 7), p.91-91, Article 91

2018

Volltextzugriff (PDF)

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Nature genetics, 1996-08, Vol.13 (4), p.409-416

1996

Volltextzugriff (PDF)

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

Nature genetics, 2009-05, Vol.41 (5), p.535-543

2009

Volltextzugriff (PDF)

The Tabby Phenotype is Caused by Mutation in a Mouse Homologue of the EDA Gene that Reveals Novel Mouse and Human Exons and Encodes a Protein (Ectodysplasin-A) with Collagenous Domains

Proceedings of the National Academy of Sciences - PNAS, 1997-11, Vol.94 (24), p.13069-13074

1997

Volltextzugriff (PDF)

Structural assessment of the effects of amino acid substitutions on protein stability and protein protein interaction

International journal of computational biology and drug design, 2010, Vol.3 (4), p.334

2010

Volltextzugriff (PDF)

Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability

American journal of human genetics, 2008-12, Vol.83 (6), p.703-713

2008

Volltextzugriff (PDF)

Evaluation of Solid Dispersions of Clofazimine

Drug development and industrial pharmacy, 2002-01, Vol.28 (8), p.1001-1013

2002

Volltextzugriff (PDF)

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia

Human mutation, 2001-04, Vol.17 (4), p.349-349

2001

Volltextzugriff (PDF)

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

Genomics (San Diego, Calif.), 2008-02, Vol.91 (2), p.195-202

2008

Volltextzugriff (PDF)

Microarray data integration for genome-wide analysis of human tissue-selective gene expression

BMC genomics, 2010-11, Vol.11 Suppl 2 (Suppl 2), p.S15-S15

2010

Volltextzugriff (PDF)

Determinants of utilization of antenatal care services in rural Lucknow, India

Journal of family medicine and primary care, 2013-01, Vol.2 (1), p.55-59

2013

Volltextzugriff (PDF)

UBE2A-related X-linked intellectual disability

Clinical dysmorphology, 2019-01, Vol.28 (1), p.1-6

2019

Volltextzugriff (PDF)

AGTR2 Mutations in X-Linked Mental Retardation

Science (American Association for the Advancement of Science), 2002-06, Vol.296 (5577), p.2401-2403

2002

Volltextzugriff (PDF)

1 – 25 von 533

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(436)
Mit Volltextzugriff
(424)

Publikationsform

2 weitere anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(333)
Life Sciences & Biomedicine
(245)
Humans
(161)
Male
(101)
Female
(86)
Biological And Medical Sciences
(70)
Physical Sciences
(69)
Technology
(60)
Animals
(53)
Medical Sciences
(49)
Adult
(46)
Genetics & Heredity
(46)
Middle Aged
(41)
Aged
(31)
Fundamental And Applied Biological Sciences. Psychology
(31)
Chemistry
(27)
Engineering
(27)
Biochemistry & Molecular Biology
(25)
Child
(25)
Covid-19
(25)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(4)
... seit 90 Tagen
(10)

Menü

Weitere Dienste

Einstellungen

Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms

Sequence feature-based prediction of protein stability changes upon amino acid substitutions

Integrative genomic analyses for identification and prioritization of long non-coding RNAs associated with autism

Neurodevelopmental disorder-associated ZBTB20 gene variants affect dendritic and synaptic structure

Autism and Intellectual Disability-Associated KIRREL3 Interacts with Neuronal Proteins MAP1B and MYO16 with Potential Roles in Neurodevelopment

Mutations in CUL4B, Which Encodes a Ubiquitin E3 Ligase Subunit, Cause an X-linked Mental Retardation Syndrome Associated with Aggressive Outbursts, Seizures, Relative Macrocephaly, Central Obesity, Hypogonadism, Pes Cavus, and Tremor

RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome

Identification of a gene, ABCG5 , important in the regulation of dietary cholesterol absorption

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation

Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans

Impurity Behavior in High Performance ADITYA Tokamak Plasmas

Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice

Co-expression of long non-coding RNAs and autism risk genes in the developing human brain

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

The Tabby Phenotype is Caused by Mutation in a Mouse Homologue of the EDA Gene that Reveals Novel Mouse and Human Exons and Encodes a Protein (Ectodysplasin-A) with Collagenous Domains

Structural assessment of the effects of amino acid substitutions on protein stability and protein protein interaction

Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability

Evaluation of Solid Dispersions of Clofazimine

The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia

Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

Microarray data integration for genome-wide analysis of human tissue-selective gene expression

Determinants of utilization of antenatal care services in rural Lucknow, India

UBE2A-related X-linked intellectual disability

AGTR2 Mutations in X-Linked Mental Retardation

Suchergebnisse filtern