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Your search keyword '"Ohba C"' showing total 10 results

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1. ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H + -ATPases is essential for brain development in humans and mice.

2. Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

3. Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy.

4. A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome.

5. Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.

6. De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance.

7. Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita.

8. Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.

9. De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain.

10. Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity.

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