34 results on '"Chiyo, H."'
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2. OC18.04: Interhemispheric opening of fetal brain by 3D neurosonography: physiological change and a gourd sign in MCD cases
3. OP09.09: Normal intracranial structure volume analysis between 11 and 20 weeks of gestation by transvaginal 3D neurosonography
4. Increased Sylvian fissure angle as early sonographic sign of malformation of cortical development
5. EP08.07: Measurement of Sylvian fissure angles at 18-30 weeks' gestation in cases with neuronal migration disorder
6. EP08.08: Ventricular occupying ratio at 18-30 weeks' gestation: normal reference range and ventriculomegaly
7. P20.01: Low-set ear detected by three-dimensional ultrasound in the first trimester and genetic cause
8. Possible intrachromosomal duplication in a case of trisomy 9p
9. Male infant with cat cry syndrome and apparent absence of the Y chromosome
10. A 6p trisomy detected in a family with a “giant satellite”
11. Reciprocal translocation t(5;6)(p13;q27) through three generations: Case report of cri du chat syndrome
12. OP06.06: Low‐set ear in early fetuses with CRL 45‐84mm detected by 3D ultrasound
13. Localization of the spherocytosis gene to chromosome segment 8p11.22→8p21.1
14. A case of partial trisomy 3q
15. Cat-Ear-Line: A Sonographic Sign of Cortical Development?
16. Fetal Megalencephaly with Cortical Dysplasia at 18 Gestational Weeks Related to Paternal UPD Mosaicism with PTEN Mutation.
17. Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.
18. Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature.
19. [Currents state and future prospects of certified genetic counselor in Japan].
20. Hereditary spherocytic anemia with deletion of the short arm of chromosome 8.
21. Monoallelic expression of normal mRNA in the PIT1 mutation heterozygotes with normal phenotype and biallelic expression in the abnormal phenotype.
22. A Japanese patient with the Costello syndrome.
23. The oral manifestations of 4p- syndrome.
24. A case of neuraminidase deficiency associated with a partial beta-galactosidase defect. Clinical, biochemical and radiological studies.
25. Hypersialyloligosacchariduria in mucolipidoses: a method for diagnosis.
26. Two cases of 8p trisomy in one sibship.
27. Loss of high frequency of sister chromatid exchanges in Epstein-Barr virus-established lymphoblastoid cell lines from two patients with Bloom's syndrome.
28. Nonrandom distribution of exchange points in patients with structural rearrangements.
29. [XXX, XXXXX and XYY syndromes].
30. [A case of XYY with typical Marfan's syndorme (author's transl)].
31. beta-Galactosidase deficient-type mucolipidosis: a complementation study of neuraminidase in somatic cell hybrids.
32. [The general problem in popularization of human cytogenetic examination (author's transl)].
33. [Electron microscopic study of the differentiation of the digestive tract of the human fetus. (1) Ultrastructure of villi in the human fetus].
34. [Electron microscopic study on the differentiation of the digestive tract of the human fetus. Ultrastructure of pancreatic exocrine cells of the human fetus].
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