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Bridging the Gap between Scientific Advancement and Real-World Application: Pediatric Genetic Counseling for Common Syndromes and Single-Gene Disorders.

Intrafamilial “DOA‐plus” phenotype variability related to different OMI/HTRA2 expression

scSLAM-seq reveals core features of transcription dynamics in single cells

NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis

Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis

Triple A syndrome: two siblings with a novel mutation in the AAAS gene

Microstructure of Ingestive Behavior in Mus Musculus

Chromosome X factors and phenotype variability

Enhancer architecture sensitizes cell specific responses to Notch gene dose via a bind and discard mechanism

Hereditary bilateral sudden sensorineural hearing loss.

Fifteen Years of the J Project

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Phenotype Variability 表現型の多様性
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