X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (8) 8
animals (5) 5
humans (5) 5
genetics & heredity (4) 4
phenotype (4) 4
autism (3) 3
drosophila melanogaster - genetics (3) 3
drosophila proteins - genetics (3) 3
drosophila proteins - metabolism (3) 3
genes (3) 3
genetics (3) 3
genomic disorders (3) 3
models, genetic (3) 3
mutation (3) 3
neurogenesis - genetics (3) 3
reproducibility of results (3) 3
algorithms (2) 2
analysis (2) 2
animals, genetically modified (2) 2
biochemistry & molecular biology (2) 2
biotechnology & applied microbiology (2) 2
brain (2) 2
cftr (2) 2
cystic fibrosis (2) 2
cystic fibrosis transmembrane conductance regulator - genetics (2) 2
cystic-fibrosis gene (2) 2
eye - anatomy & histology (2) 2
eye - ultrastructure (2) 2
eye diseases (2) 2
female (2) 2
gene expression (2) 2
gene knockdown techniques (2) 2
genetic aspects (2) 2
genetic association studies (2) 2
genetic structures (2) 2
male (2) 2
nerve tissue proteins - genetics (2) 2
neurodevelopmental disorders (2) 2
neuropsychiatric disorders (2) 2
protein (2) 2
schizophrenia (2) 2
sense organs (2) 2
transmembrane conductance regulator (2) 2
1332 (1) 1
1506 (1) 1
16p11.2 deletion (1) 1
16p12.1 (1) 1
[sdv.gen.gh]life sciences [q-bio]/genetics/human genetics (1) 1
adhd (1) 1
angelman syndrome (1) 1
angelman syndrome - genetics (1) 1
angelman syndrome - pathology (1) 1
apical (1) 1
apoptosis regulatory proteins - genetics (1) 1
autism spectrum disorder (1) 1
autism spectrum disorder - genetics (1) 1
autism spectrum disorder - pathology (1) 1
autistic disorder - genetics (1) 1
autistic disorder - metabolism (1) 1
autistic disorder - pathology (1) 1
base sequence (1) 1
bepress|life sciences|biology (1) 1
bepress|life sciences|genetics and genomics|genetics (1) 1
biochemical research methods (1) 1
biology and life sciences (1) 1
biomarkers - metabolism (1) 1
biomedical research (1) 1
brain - metabolism (1) 1
brain - pathology (1) 1
brain research (1) 1
cell biology (1) 1
cell growth (1) 1
cell membrane - metabolism (1) 1
cell proliferation (1) 1
cells (1) 1
chromosome deletion (1) 1
chromosome disorders - diagnosis (1) 1
chromosome disorders - genetics (1) 1
chromosome duplication - genetics (1) 1
chromosomes, human, pair 15 - genetics (1) 1
chromosomes, human, pair 16 - chemistry (1) 1
chromosomes, human, pair 16 - genetics (1) 1
chromosomes, insect - chemistry (1) 1
clinical genetics (1) 1
clinical utility gene card (1) 1
clonal deletion (1) 1
cnv (1) 1
codon (1) 1
codon frequency conservation (1) 1
congenital diseases (1) 1
copy-number variants (1) 1
craniofacial abnormalities - diagnosis (1) 1
craniofacial abnormalities - genetics (1) 1
cystic fibrosis transmembrane conductance regulator - analysis (1) 1
cystic fibrosis transmembrane conductance regulator - metabolism (1) 1
de-novo mutations (1) 1
deconvolution (1) 1
degradation (1) 1
deletion (1) 1
deletions (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 2548 - 19
As opposed to syndromic CNVs caused by single genes, extensive phenotypic heterogeneity in variably-expressive CNVs complicates disease gene discovery and... 
INTELLECTUAL DISABILITY | DE-NOVO MUTATIONS | NEUROPSYCHIATRIC DISORDERS | SIGNALING PATHWAY | SPECTRUM DISORDER | GENOMIC DISORDERS | MULTIDISCIPLINARY SCIENCES | PROLIFERATION | PHENOTYPES | EYE DEVELOPMENT | PREDICTION | RNA, Small Interfering - genetics | Sequence Deletion | Autistic Disorder - pathology | Cell Proliferation | Autistic Disorder - metabolism | Humans | Male | Drosophila Proteins - metabolism | Gene Regulatory Networks | Drosophila melanogaster - genetics | DNA Copy Number Variations | Brain - metabolism | Drosophila melanogaster - metabolism | Neurogenesis - genetics | Gene Expression Regulation, Developmental | Base Sequence | Female | Drosophila Proteins - antagonists & inhibitors | Disease Models, Animal | Autistic Disorder - genetics | Chromosomes, Insect - chemistry | Nerve Tissue Proteins - antagonists & inhibitors | Nerve Tissue Proteins - genetics | Sequence Homology, Nucleic Acid | Protein Interaction Mapping | Nerve Tissue Proteins - metabolism | Phenotype | Animals | Brain - pathology | Chromosomes, Human, Pair 16 - chemistry | Drosophila melanogaster - growth & development | Drosophila Proteins - genetics | RNA, Small Interfering - metabolism | Cell proliferation | Pathogens | Brain | Phenotypes | Identification methods | Interaction models | Drosophila | RNA-mediated interference | Genes | Homology | Gene expression | Pathogenicity | Autism | Cell growth | Pathways | Clonal deletion | Insects | Deletion
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2019, Volume 21, Issue 4, pp. 816 - 825
Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare... 
CNV | phenotypic variability | 16p11.2 deletion | autism | modifier | SUPPORTS | SCHIZOPHRENIA | MODEL | REARRANGEMENTS | PENETRANCE | GENETICS & HEREDITY | 16P12.1 | MUTATIONS | DELETIONS | EXPRESSION | Life Sciences | Genetics | Human genetics
Journal Article
PLoS Genetics, ISSN 1553-7390, 05/2016, Volume 12, Issue 5, p. e1005993
Journal Article
G3: Genes, Genomes, Genetics, 05/2016, Volume 6, Issue 5, pp. 1427 - 1437
About two-thirds of the vital genes in the Drosophila genome are involved in eye development, making the fly eye an excellent genetic system to study cellular... 
Neuro-developmental disorders | Rough eye | Human disease models | Ommatidia | Drosophila melanogaster | Modifier screens | Index Medicus | ommatidia | modifier screens | rough eye | neurodevelopmental disorders | human disease models
Journal Article
BMJ Open, ISSN 2044-6055, 09/2018, Volume 8, Issue 9, p. e022831
IntroductionGestational diabetes increases maternal and offspring complications in pregnancy and cardiovascular complications in the long term. The nutritional... 
protocol | pilot | randomised controlled trials | gestational diabetes | pregnancy | myo-inositol | MOTHERS | MEDICINE, GENERAL & INTERNAL | QUALITY | PREGNANT-WOMEN | RISK | MELLITUS
Journal Article
Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, ISSN 0027-5107, 05/2015, Volume 775, pp. 19 - 25
Journal Article
No results were found for your search.

Cannot display more than 1000 results, please narrow the terms of your search.