Paolini, Nahuel A <br/><br/>
A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.  [electronic resource] 

 -  American journal of human genetics  Mar 2017 
 - 506-522 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2017.01.034  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Autism Spectrum Disorder--genetics<br/>Carrier Proteins--genetics<br/>Cells, Cultured<br/>Child<br/>Child, Preschool<br/>Codon--genetics<br/>Developmental Disabilities--genetics<br/>Exome<br/>Female<br/>Fibroblasts--cytology<br/>Genetic Variation<br/>Hearing Loss--genetics<br/>Humans<br/>Intellectual Disability--genetics<br/>Male<br/>Microcephaly--genetics<br/>Mutation<br/>Mutation, Missense<br/>Nuclear Proteins--genetics<br/>Oxidative Stress<br/>Protein Biosynthesis--genetics<br/>Ribosomal Proteins--genetics<br/>Ribosomes--genetics<br/>Sequence Alignment<br/>Sequence Analysis, DNA