Akawi, Nadia <br/><br/>
Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.  [electronic resource] 

 -  Nature genetics  Nov 2015 
 - 1363-9 p.  digital 
<br/><br/> Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1546-1718 
<br/><br/><label>Standard No.: </label>10.1038/ng.3410  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Cell Cycle Proteins--genetics<br/>Developmental Disabilities--classification<br/>Exome--genetics<br/>Family Health<br/>Female<br/>Genes, Recessive<br/>Genetic Association Studies--methods<br/>Genetic Predisposition to Disease--genetics<br/>Genetic Variation<br/>Genotype<br/>Humans<br/>Male<br/>Matrix Metalloproteinases, Secreted--genetics<br/>Pedigree<br/>Phenotype<br/>Protein-Arginine N-Methyltransferases--genetics<br/>Sequence Analysis, DNA--methods<br/>Ubiquitin-Protein Ligases--genetics<br/>United Kingdom