Okamoto Nobuhiko | Department Of Planning And Research Osaka Medical Center And Research Institute For Maternal And Chi

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著作論文

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
Chromosome 1q deletion and congenital glaucoma
Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
A clinical and molecular study of a patient with Simpson-Golabi-Behmel syndrome
Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography
Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
HRAS mutants identified in Costello syndrome patients can induce cellular senescence : possible implications for the pathogenesis of Costello syndrome
Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis

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