Macrothrombocytopenia and developmental delay with ade novo CDC42mutation: Yet another locus for thrombocytopenia and developmental delay

Novel Overgrowth Syndrome Phenotype Due to Recurrent De Novo PDGFRB Mutation

(2015) Toshiki Takenouchi et al.   JOURNAL OF PEDIATRICS

The Use of Next-Generation Sequencing in Molecular Diagnosis of Neurofibromatosis Type 1: A Validation Study

(2014) Ryo Maruoka et al.   Genetic Testing and Molecular Biomarkers

1.9 Mb microdeletion of 21q22.11 within Braddock-Carey contiguous gene deletion syndrome region: Dissecting the phenotype

(2012) Kosuke Izumi et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Transverse limb defect in a patient with Jacobsen syndrome: Concurrence of malformation and disruption

(2010) Hideki Fujita et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Microdeletion of the Down syndrome critical region at 21q22

(2010) Hideki Fujita et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Multiple alterations of platelet functions dominated by increased secretion in mice lacking Cdc42 in platelets

(2010) I. Pleines et al.   BLOOD

Regulation of lymphatic-blood vessel separation by endothelial Rac1

(2009) G. D'Amico et al.   DEVELOPMENT