35 results on '"Itai, Toshiyuki"'
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2. Investigating gene functions and single-cell expression profiles of de novo variants in orofacial clefts
3. Publisher Correction: A novel NONO variant that causes developmental delay and cardiac phenotypes
4. A novel NONO variant that causes developmental delay and cardiac phenotypes
5. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
6. Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
7. Novel CLTC variants cause new brain and kidney phenotypes
8. Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports
9. Cerebrovascular diseases in two patients with entire NSD1 deletion
10. Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
11. Potential risks associated with laparoscopic gastrostomy in patients with the COL4A1 variant: Two case reports.
12. Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality
13. De novo mutations disturb early brain development more frequently than common variants in schizophrenia
14. Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
15. Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy
16. Frequent breath-hold while awakening in SATB1 missense variant: A case report
17. Hypohidrotic ectodermal dysplasia with influenza-associated encephalopathy: A case report
18. De novo heterozygous variants in KIF5B cause kyphomelic dysplasia
19. Additional file 1 of Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants
20. Progressive cerebral atrophies in three children with COL4A1 mutations
21. Novel CLTC variants cause new brain and kidney phenotypes
22. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
23. Successful treatment of intractable life-threatening seizures with perampanel in the first case of early myoclonic encephalopathy with a novel de novo SCN1A mutation
24. Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses
25. De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy
26. Effect of total callosotomy on KCNQ2-related intractable epilepsy
27. Prenatal clinical manifestations in individuals with COL4A1/2 variants
28. Clinical and genetic characteristics of patients with Doose syndrome
29. Novel CLTCvariants cause new brain and kidney phenotypes
30. Efficient detection of copy‐number variations using exome data: Batch‐ and sex‐based analyses.
31. De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
32. A case of prenatal chronic intestinal pseudo-obstruction associated with Leigh syndrome
33. Predicting the intrauterine fetal death of fetuses with cystic hygroma in early pregnancy
34. Prenatal clinical manifestations in individuals with COL4A1/2variants
35. DeepFace: Deep-learning-based framework to contextualize orofacial-cleft-related variants during human embryonic craniofacial development.
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