23 results on '"Ohashi, Ikuko"'
Search Results
2. Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion
3. A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2
4. Repeated collection of conjoined oocytes from a patient with polycystic ovary syndrome, resulting in one successful live birth from frozen thawed blastocyst transfer: a case report
5. Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing
6. A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome
7. Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features
8. Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2
9. Two families with compound heterozygosity for adenine phosphoribosyltransferase deficiency
10. Refinement of the deletion in 8q22.2–q22.3: The minimum deletion size at 8q22.3 related to intellectual disability and epilepsy
11. De novo duplication of 17p13.1–p13.2 in a patient with intellectual disability and obesity
12. Update of the genotype and phenotype ofKMT2DandKDM6Aby genetic screening of 100 patients with clinically suspected Kabuki syndrome
13. Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
14. Evaluation of a patient with classical Ehlers‐Danlos syndrome due to a 9q34 duplication affecting COL5A1
15. A novel UBE2A mutation causes X-linked intellectual disability type Nascimento
16. 6p21.33 Deletion encompassing CSNK2Bis associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability
17. A postzygoticNRASmutation in a patient with Schimmelpenning syndrome
18. Delineation of theKIAA2022mutation phenotype: Two patients with X-linked intellectual disability and distinctive features
19. Deletion ofUBE3Ain brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2
20. West Syndrome in a Patient With Schinzel-Giedion Syndrome
21. West Syndrome in a Patient With Schinzel-Giedion Syndrome.
22. Efficacy of Laser Assisted Hatching using a 1.48-μm Diode Laser in Human Embryo
23. Chemical zona pellucida thinning with acidified Tyrode's solution: comparison between partial and circumferential techniques.
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