Kurosawa Kenji | Division Of Medical Genetics Clinical Research Institute Kanagawa Children's Medical Center

スポンサーリンク

概要

関連著者

もっと見る

著作論文

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
Position-specific expression of Hox genes along the gastrointestinal tract
A major influence of CYP2C19 genotype on the steady-state concentration of N-desmethylclobazam
Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome
Gonadal sex cord stromal tumor in a patient with Rubinstein-Taybi syndrome
A JAPANESE PATIENT WITH X-LINKED α-THALASSEMIA/MENTAL RETARDATION SYNDROME : AN ADDITIONAL CASE REPORT
Genome-wide screening of dioxin-responsive genes in fetal brain : bioinformatic and experimental approaches
Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography
Discrepancies in cytogenetic results between amniocytes and postnatally obtained blood : trisomy 9 mosaicism
Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome
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
Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybridization analysis
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

もっと見る

スポンサーリンク