Maeda Noriko | Department Of Gynecology And Obstetrics Nagasaki University School Of Medicine; 5genetic Counseling

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著作論文

Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia
Microarray comparative genomic hybridization (CGH)-based prenatal diagnosis for chromosome abnormalities using cell-free fetal DNA in amniotic fluid
Special Report A Genetic Counseling System in Nagasaki Prefecture: The Course and Current Status of the Genetic Counseling Unit in Nagasaki University Hospital
De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis
Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure
A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia
Prospective ultrasonographic prediction of sentinel lymph node metastasis by real-time virtual sonography constructed with three-dimensional computed tomography-lymphography in breast cancer patients
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features
Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies
A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS

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