UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 185

Sortiert nach

Phenotypic variability and genetic susceptibility to genomic disorders

Human molecular genetics, 2010-10, Vol.19 (R2), p.R176-R187

2010

Volltextzugriff (PDF)

Acoustic model with hybrid Deep Bidirectional Single Gated Unit (DBSGU) for low resource speech recognition

Multimedia tools and applications, 2022-05, Vol.81 (12), p.17169-17184

2022

Volltextzugriff (PDF)

Functional significance of rare neuroligin 1 variants found in autism

PLoS genetics, 2017-08, Vol.13 (8), p.e1006940-e1006940

2017

Volltextzugriff (PDF)

Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome

PLoS genetics, 2021-09, Vol.17 (9), p.e1009777-e1009777

2021

Volltextzugriff (PDF)

Differences in the rare variant spectrum among human populations

PLoS genetics, 2017-02, Vol.13 (2), p.e1006581-e1006581

2017

Volltextzugriff (PDF)

An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency

PLoS genetics, 2022-06, Vol.18 (6), p.e1010228-e1010228

2022

Volltextzugriff (PDF)

Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder

PLoS genetics, 2016-10, Vol.12 (10), p.e1006391-e1006391

2016

Volltextzugriff (PDF)

Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila

PLoS genetics, 2022-05, Vol.18 (5), p.e1010159-e1010159

2022

Volltextzugriff (PDF)

Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits

PLoS genetics, 2023-06, Vol.19 (6), p.e1010780-e1010780

2023

Volltextzugriff (PDF)

Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing

PLoS genetics, 2021-10, Vol.17 (10), p.e1009835-e1009835

2021

Volltextzugriff (PDF)

A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population

PLoS genetics, 2020-11, Vol.16 (11), p.e1008802-e1008802

2020

Volltextzugriff (PDF)

RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Journal of medical genetics, 2005-11, Vol.42 (11), p.820-828

2005

Volltextzugriff (PDF)

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3

PLoS genetics, 2016-07, Vol.12 (7), p.e1006177

2016

Volltextzugriff (PDF)

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

Clinical genetics, 2007-06, Vol.71 (6), p.540-550

2007

Volltextzugriff (PDF)

Real-Time Speech Enhancement Based on Convolutional Recurrent Neural Network

Intelligent automation and soft computing, 2023, Vol.35 (2), p.1987-2001

2023

Volltextzugriff (PDF)

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India

Journal of medical genetics, 2003-05, Vol.40 (5), p.e68-68

2003

Volltextzugriff (PDF)

A functional network module for Smith–Magenis syndrome

Clinical genetics, 2009-04, Vol.75 (4), p.364-374

2009

Volltextzugriff (PDF)

Enhanced Model for Automatic Tamil Text Summarization

2023 International Conference on Sustainable Computing and Data Communication Systems (ICSCDS), 2023, p.752-758

2023

Volltextzugriff (PDF)

Cardiovascular Disease Prediction using Enhanced Support Vector Machine Algorithm

2022 6th International Conference on Computing Methodologies and Communication (ICCMC), 2022, p.295-302

2022

Volltextzugriff (PDF)

Smith-Magenis syndrome

European journal of human genetics : EJHG, 2008-04, Vol.16 (4), p.412-421

2008

Volltextzugriff (PDF)

The origins and impact of primate segmental duplications

Trends in genetics, 2009-10, Vol.25 (10), p.443-454

2009

Volltextzugriff (PDF)

Morphogenesis Method to Detect Brain Tumor using Machine Learning Technique and Noise Filtering

2022 International Conference on Sustainable Computing and Data Communication Systems (ICSCDS), 2022, p.1-7

2022

Volltextzugriff (PDF)

Eyebrow anomalies as a diagnostic sign of genomic disorders

Clinical genetics, 2010-01, Vol.77 (1), p.28-31

2010

Volltextzugriff (PDF)

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome

Clinical genetics, 2007-07, Vol.72 (1), p.47-58

2007

Volltextzugriff (PDF)

Automatic Speech Recognition with Stuttering Speech Removal using Long Short-Term Memory (LSTM)

International journal of recent technology and engineering, 2020-01, Vol.8 (5), p.1677-1681

2020

Volltextzugriff (PDF)

1 – 25 von 185

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(151)
Mit Volltextzugriff
(158)

Publikationsform

Sprache

Englisch
(185)
Japanisch
(30)

Erscheinungsjahr

n.n

Thema

Science & Technology
(128)
Life Sciences & Biomedicine
(101)
Humans
(87)
Genetics & Heredity
(80)
Autism
(38)
Phenotype
(37)
Mutation
(35)
Female
(34)
Male
(33)
Biological And Medical Sciences
(27)
Animals
(26)
Genomes
(24)
Genes
(22)
Genetic Aspects
(21)
Medical Sciences
(21)
Child
(19)
Fundamental And Applied Biological Sciences. Psychology
(18)
Genetics
(18)
Genomics
(18)
Schizophrenia
(18)

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)
... seit 90 Tagen
(3)

Menü

Weitere Dienste

Einstellungen

Phenotypic variability and genetic susceptibility to genomic disorders

Acoustic model with hybrid Deep Bidirectional Single Gated Unit (DBSGU) for low resource speech recognition

Functional significance of rare neuroligin 1 variants found in autism

Dyrk1a gene dosage in glutamatergic neurons has key effects in cognitive deficits observed in mouse models of MRD7 and Down syndrome

Differences in the rare variant spectrum among human populations

An in vivo drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiency

Genetic Evidence for Elevated Pathogenicity of Mitochondrial DNA Heteroplasmy in Autism Spectrum Disorder

Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila

Combinations of genes at the 16p11.2 and 22q11.2 CNVs contribute to neurobehavioral traits

Pathogenic BCL11A variants provide insights into the mechanisms of human fetal hemoglobin silencing

A phenome-wide association study of 26 mendelian genes reveals phenotypic expressivity of common and rare variants within the general population

RAI1 variations in Smith–Magenis syndrome patients without 17p11.2 deletions

Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3

Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases

Real-Time Speech Enhancement Based on Convolutional Recurrent Neural Network

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India

A functional network module for Smith–Magenis syndrome

Enhanced Model for Automatic Tamil Text Summarization

Cardiovascular Disease Prediction using Enhanced Support Vector Machine Algorithm

Smith-Magenis syndrome

The origins and impact of primate segmental duplications

Morphogenesis Method to Detect Brain Tumor using Machine Learning Technique and Noise Filtering

Eyebrow anomalies as a diagnostic sign of genomic disorders

17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome

Automatic Speech Recognition with Stuttering Speech Removal using Long Short-Term Memory (LSTM)

Suchergebnisse filtern