24 results on '"Inaba, Mie"'
Search Results
2. Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism‐holoprosencephaly
3. Atypical Sotos syndrome caused by a novel splice site variant
4. Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood
5. Mowat-Wilson syndrome: growth charts
6. Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1
7. R3HDM1haploinsufficiency is associated with mild intellectual disability
8. Additional file 1 of Mowat-Wilson syndrome: growth charts
9. Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures
10. Mowat-Wilson Syndrome: Growth Charts
11. Successful treatment of drug-resistant status epilepticus in an adult patient with Mowat-Wilson syndrome: A case report
12. A Novel Caspr Mutation Causes the Shambling Mouse Phenotype by Disrupting Axoglial Interactions of Myelinated Nerves
13. Involvement of T-type Ca2+ channels in the potentiation of synaptic and visual responses during the critical period in rat visual cortex
14. R3HDM1 haploinsufficiency is associated with mild intellectual disability.
15. Clinical and genetic characterization of a patient with SOX5 haploinsufficiency caused by a de novo balanced reciprocal translocation
16. Biallelic mutations in NALCN : Expanding the genotypic and phenotypic spectra of IHPRF1
17. The effect of rapamycin, NVP-BEZ235, aspirin, and metformin on PI3K/AKT/mTOR signaling pathway of PIK3CA-related overgrowth spectrum (PROS)
18. Biallelic mutations in <italic>NALCN</italic>: Expanding the genotypic and phenotypic spectra of IHPRF1.
19. Facilitation of low-frequency stimulation-induced long-term potentiation by endogenous noradrenaline and serotonin in developing rat visual cortex
20. Brain-derived neurotrophic factor-mediated retrograde signaling required for the induction of long-term potentiation at inhibitory synapses of visual cortical pyramidal neurons
21. NMDA receptor blockade during monocular deprivation prevents the maintenance of ocular dominance shift produced by the deprivation
22. Involvement of T-type Ca2+ channels in the potentiation of synaptic and visual responses during the critical period in rat visual cortex.
23. Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood.
24. Biallelic loss of OTUD7A causes severe muscular hypotonia, intellectual disability, and seizures.
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