12 results on '"Ogata, T"'
Search Results
2. Microphthalmia with linear skin defects syndrome in a mosaic female infant with monosomy for the Xp22 region: molecular analysis of the Xp22 breakpoint and the X-inactivation pattern
3. FISH-deletion mapping defines a 270-kb short stature critical interval in the pseudoautosomal region PAR1 on human sex chromosomes
4. Further clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner stigmata
5. Coarctation of the aorta and renal hypoplasia in a boy with Turner/Noonan surface anomalies and a 46,XY karyotype: a clinical model for the possible impairment of a putative lymphogenic gene(s) for Turner somatic stigmata
6. De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.
7. Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.
8. A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.
9. Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development.
10. Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features.
11. Refinement of the locus for X-linked recessive chondrodysplasia punctata.
12. Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height.
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