（Last updated : 2020-03-30 12:48:40）
Down syndrome (trisomy 21 syndrome)「今日の治療指針 2013版」
variants in two patients with X-linked intellectual disability.
Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing
Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features
De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
Pure duplication of 19p13.3.
Ehlers-Danlos syndrome, vascular type: A novel missense mutation in the COL3A1 gene.
Expression analysis of a 17p terminal deletion, including YWHAE, but not PAFAH1B1, associated with normal brain structure on MRI in a young girl.
Sirenomelia with a de novo balanced translocation 46,X,t(X;16)(p11.23;p12.3).
Spastic quadriplegia in Down syndrome with congenital duodenal stenosis/atresia.
Trends in occurrence of twin births in Japan.
Severe upper airway stenosis in a boy with partial monosomy 16p13.3-pter and partial trisomy 16q22-qter.
Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: Report of two cases and review of the literature.
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variants in two Japanese patients with X-linked intellectual disability.
mutation causes MFS/LDS-like phenotypes in 2 Japanese families.
Clinical and neuroimaging findings of an incomplete form of Moebius syndrome
Brain imaging analysis in Moebius syndrome
Genetic counseling documentation by FileMaker Pro 11
Information for the initial discussion of a postnatal diagnosis of Down syndrome: A proposal to healthcare providers
Targeted next-generation sequencing for the molecular genetic diagnostics of mandibulofacial dysostosis.
Trio-exome sequencing identifies mutations of the gene encoding the histone acetyltransferase KAT6B/MYST4 in individuals with the Young-Simpson syndrome.
Report of support for hereditary and intractable neurological disease patients
Development of comprehensive information for genetic counseling in Japan
preliminary guidebook of genetic disease for patients and relatives
Estimation of prevalence of malformation syndrome by population-based birth defects monitoring system in Japan.
Trends of the incidence of twin births in Japan.
Follow-up and Management of Young-Simpson Syndrome.
Current Situation of the Certified Genetic Counselors in japan, 2010
Construction of resources in genetic counseling in Japan
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The European Society of Human Genetics
© 2008 Kawasaki Medical School