14 results on '"Imagawa, E"'
Search Results
2. Mutational landscape of BRCA gene mutations in Indian breast cancer patients: retrospective insights from a diagnostic lab
3. DNA methylation signatures for chromatinopathies: current challenges and future applications
4. Five years of experience in the Epigenetics and Chromatin Clinic: what have we learned and where do we go from here?
5. A deep intronic variant in DNM1 in a patient with developmental and epileptic encephalopathy creates a splice acceptor site and affects only transcript variants including exon 10a
6. Truncation mutations in MYRF underlie primary angle closure glaucoma
7. Monogenic causes of pigmentary mosaicism
8. Late-onset hypertension in a child with growth retardation: Answers
9. Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions
10. Identification of new candidate genes for spina bifida through exome sequencing
11. Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)
12. Update on polyglucosan storage diseases
13. De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism
14. Phenotypic variability in progressive encephalopathy with brain atrophy and thin corpus callosum: insights from two families
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