De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: A case report and a brief literature review

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 6, 2015-06 ,pp. : 1381-1385

John Wiley & Sons Inc

Access to resources Recommend Favorite

Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3

By Samaco Rodney C.   Hogart Amber   LaSalle Janine M.  

Human Molecular Genetics, Vol. 14, Iss. 4, 2005-02 ,pp. : 483-492

Oxford University Press

Access to resources Recommend Favorite

Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders

By Nguyen Lam S.   Kim Hyung-Goo   Rosenfeld Jill A.   Shen Yiping   Gusella James F.   Lacassie Yves   Layman Lawrence C.   Shaffer Lisa G.   Gécz Jozef  

Human Molecular Genetics, Vol. 22, Iss. 9, 2013-05 ,pp. : 1816-1825

Oxford University Press

Access to resources Recommend Favorite

A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies

By  

American Journal Of Medical Genetics Part A, Vol. 167, Iss. 12, 2015-12 ,pp. : 3011-3018

John Wiley & Sons Inc

Access to resources Recommend Favorite

New intragenic deletions in the Phex gene clarify X-linked hypophosphatemia-related abnormalities in mice

By Lorenz-Depiereux Bettina  

Mammalian Genome, Vol. 15, Iss. 3, 2004-03 ,pp. : 151-161

Springer Publishing Company

Access to resources Recommend Favorite