X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
abnormalities (2) 2
genetic disorders (2) 2
index medicus (2) 2
adult (1) 1
analysis (1) 1
array-based karyotyping (1) 1
birth defects (1) 1
brain - abnormalities (1) 1
brain - metabolism (1) 1
brain malformation (1) 1
candidate gene (1) 1
carrier proteins - genetics (1) 1
carrier proteins - metabolism (1) 1
central nervous system (1) 1
chromosomal microarray (1) 1
chromosomal proteins, non-histone - genetics (1) 1
chromosomal proteins, non-histone - metabolism (1) 1
chromosome aberrations (1) 1
chromosomes (1) 1
clinical neurology (1) 1
cns (1) 1
cnv analysis (1) 1
comparative genomic hybridization (1) 1
copy number variation (1) 1
copy number variations (1) 1
corpus-callosum (1) 1
de novo (1) 1
de novo occurrence (1) 1
deletion (1) 1
deletions (1) 1
developmental biology (1) 1
diagnosis (1) 1
dna copy number variations (1) 1
female (1) 1
fetus (1) 1
gene dosage (1) 1
genes (1) 1
genetic research (1) 1
genomics (1) 1
haploinsufficiency (1) 1
humans (1) 1
intellectual disability - diagnosis (1) 1
intellectual disability - genetics (1) 1
intellectual disability - pathology (1) 1
karyotyping - instrumentation (1) 1
karyotyping - methods (1) 1
kif1a (1) 1
long arm (1) 1
male (1) 1
membrane proteins - genetics (1) 1
membrane proteins - metabolism (1) 1
mental-retardation (1) 1
microarray (1) 1
microdeletion (1) 1
molecular chaperones - genetics (1) 1
molecular chaperones - metabolism (1) 1
mutation (1) 1
nervous system malformations - diagnosis (1) 1
nervous system malformations - genetics (1) 1
nervous system malformations - pathology (1) 1
nervous-system (1) 1
neurosciences (1) 1
oligonucleotide array sequence analysis (1) 1
pregnancy (1) 1
pregnant women (1) 1
prenatal diagnosis (1) 1
prenatal-diagnosis (1) 1
protein-coupled receptor (1) 1
ptp-delta (1) 1
research (1) 1
snp array (1) 1
ubiquitins - genetics (1) 1
ubiquitins - metabolism (1) 1
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


JCR: Journal of Clinical Rheumatology, ISSN 1076-1608, 10/2019, p. 1
Journal Article
Journal of Neurodevelopmental Disorders, ISSN 1866-1947, 04/2016, Volume 8, Issue 1, p. 11
Background: The overall birth prevalence for congenital malformations of the central nervous system (CNS) among Europeans may be as high as 1 in 100 live... 
Brain malformation | Copy number variation (CNV) | De novo occurrence | Array-based karyotyping | CHROMOSOMAL MICROARRAY | NERVOUS-SYSTEM | DIAGNOSIS | ABNORMALITIES | NEUROSCIENCES | CLINICAL NEUROLOGY | DELETION | PROTEIN-COUPLED RECEPTOR | PTP-DELTA | MUTATION | CANDIDATE GENE | KIF1A | Chromosomes | Birth defects | Genetic disorders
Journal Article
Birth Defects Research Part A: Clinical and Molecular Teratology, ISSN 1542-0752, 01/2016, Volume 106, Issue 1, pp. 16 - 26
Journal Article
Birth Defects Research Part A: Clinical and Molecular Teratology, ISSN 1542-0752, 01/2016, Volume 106, Issue 1, pp. 16 - 26
Journal Article
European journal of rheumatology, ISSN 2147-9720, 08/2019, p. 1
COPA syndrome is a newly discovered hereditary immunodeficiency affecting the lung, kidneys, and joints. The mutated gene encodes the α subunit of the coatomer... 
Journal Article
No results were found for your search.

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