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Your search keyword '"Naoto Nishimura"' showing total 2 results
Start Over Author "Naoto Nishimura" Journal congenital anomalies
2 results on '"Naoto Nishimura"'

1. Multiple craniosynostosis and facial dysmorphisms with homozygous <scp> IL11RA </scp> variant caused by maternal uniparental isodisomy of chromosome 9

Author

Kenji Kurosawa, Hiroaki Murakami, Naoto Nishimura, Hironobu Sato, and Tomoko Hayashi

Subjects
Embryology, DNA Copy Number Variations, DNA Mutational Analysis, Chromosome 9, Craniosynostosis, Craniofacial Abnormalities, Craniosynostoses, medicine, Humans, Interleukin-11 Receptor alpha Subunit, Genetics, business.industry, Homozygote, Infant, Genomics, General Medicine, Uniparental Disomy, medicine.disease, Phenotype, Uniparental Isodisomy, Pediatrics, Perinatology and Child Health, Female, Maternal Inheritance, Chromosomes, Human, Pair 9, business, Tomography, Spiral Computed, Developmental Biology
Published
2020
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2. Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2‐q41 encompassing cell division cycle protein 73

Author

Toshiyuki Saito, Kenji Kurosawa, Mitsuo Masuno, Naoto Nishimura, and Hiroaki Murakami

Subjects
Chromosome Aberrations, Embryology, Tumor Suppressor Proteins, Chromosome Mapping, General Medicine, Computational biology, Biology, Cell division cycle, Chromosomes, Human, Pair 1, Neoplasms, Pediatrics, Perinatology and Child Health, Humans, Genetic Predisposition to Disease, Developmental biology, Developmental Biology
Published
2019
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