Prasad, Aparna <br/><br/>
Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.  [electronic resource] 

 -  BMC medical genetics  03 2018 
 - 46 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/s12881-018-0555-3  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Amino Acid Transport Systems, Basic--genetics<br/>Aminopeptidases--genetics<br/>Autism Spectrum Disorder--diagnosis<br/>Child<br/>Child, Preschool<br/>Cohort Studies<br/>DNA Copy Number Variations<br/>Developmental Disabilities--diagnosis<br/>Diagnostic Tests, Routine<br/>Dipeptidyl-Peptidases and Tripeptidyl-Peptidases--genetics<br/>Female<br/>Homozygote<br/>Humans<br/>Infant<br/>Intellectual Disability--diagnosis<br/>Male<br/>Microarray Analysis<br/>Mitochondrial Membrane Transport Proteins<br/>NADH Dehydrogenase--genetics<br/>Neurodevelopmental Disorders--diagnosis<br/>Phenotype<br/>Polymorphism, Single Nucleotide<br/>Potassium Channels, Voltage-Gated--genetics<br/>Sequence Analysis, DNA<br/>Serine Proteases--genetics<br/>Shaker Superfamily of Potassium Channels<br/>Tripeptidyl-Peptidase 1<br/>Exome Sequencing<br/>Young Adult