Valente, Enza Maria <br/><br/>
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.  [electronic resource] 

 -  Annals of neurology  Mar 2006 
 - 527-34 p.  digital 
<br/><br/> Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>0364-5134 
<br/><br/><label>Standard No.: </label>10.1002/ana.20749  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adaptor Proteins, Signal Transducing--genetics<br/>Adaptor Proteins, Vesicular Transport<br/>Adolescent<br/>Adult<br/>Animals<br/>Brain Diseases--diagnosis<br/>Brain Stem--pathology<br/>Child<br/>Child, Preschool<br/>Chromosome Disorders--genetics<br/>DNA Mutational Analysis--methods<br/>Developmental Disabilities--genetics<br/>Family Health<br/>Female<br/>Gene Frequency<br/>Humans<br/>Infant<br/>Magnetic Resonance Imaging--methods<br/>Male<br/>Models, Molecular<br/>Mutation<br/>Polymorphism, Genetic