Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.

Journal: Science (New York, N.Y.)

Publication Year: 2014

Authors & Co-authors:  Novarino Gaia G Fenstermaker Ali G AG Zaki Maha S MS Hofree Matan M Silhavy Jennifer L JL Heiberg Andrew D AD Abdellateef Mostafa M Rosti Basak B Scott Eric E Mansour Lobna L

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.

Journal: Journal of medical genetics

Publication Year: 

Authors & Co-authors:  Lacombe Bloch-Zupan Bredrup Cooper Houge García-Miñaúr Kayserili Larizza Lopez Gonzalez Menke