Avina, Daniel Alejandro Hernández:


Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism

Berkowitz-Sutherland, Laura;

Schneider, Andrea;

Schweitzer, Julie B.;

Hessl, David;

Hagerman, Randi:


A feasibility trial of Cogmed working memory training in fragile X syndrome

Stheneur, Chantal;

Odent, Sylvie;

Arno, Gavin;

Murphy, Daniel;

Bernstein, Jonathan A.:


A recurrent fibrillin-1 mutation in severe early onset Marfan syndrome

Yadav, Dinesh;

Kumar, Ravindra;

Yadav, Summi;

Singh, Kuldeep;

Callewaert, Bert;

Pathan, Shahnawaz;

De Paepe, Anne;

Coucke, Paul J.:


Congenital contractural arachnodactyly due to a novel splice site mutation in the

FBN2

gene


Congenital contractural arachnodactyly due to a novel splice site mutation in the

FBN2

gene

Kamath, Mohan S.;

Danda, Sumita:


MURCS association with situs inversus totalis: Expanding the spectrum or a novel disorder

Chatterjee, Tridip;

Chakravarty, Sudipa;

Chakravarty, Amit:


Clinical presentation of two β-thalassemic Indian patients with 1p36 deletion syndrome: Case report

Duis, Jessica:


Signs and symptoms of genetic conditions – A handbook