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Naoto Nishimura

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Clinical Epigenetics|February 19, 2025

Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignatureTakeshi Mizuguchi, Nobuhiko Okamoto, Taiki Hara, et al.

Journal of Human Genetics|May 2, 2025

Hemizygous SMARCA1 variants cause X-linked intellectual disabilityNaoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada, et al.

American Journal of Medical Genetics. Part A|August 18, 2020

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndromeHiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto, et al.

Journal of Human Genetics|December 17, 2025

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disordersYukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.

NPJ Genomic Medicine|August 26, 2025

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delayKohei Hamanaka, Atsushi Fujita, Satoko Miyatake, et al.

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Search research articles

Showing results (31-40 of 35) with videos related to

Sort By:

Pageof 4

You have reached the last page of results.This site can display upto 35 results.

Clinical Epigenetics|February 19, 2025

Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignatureTakeshi Mizuguchi, Nobuhiko Okamoto, Taiki Hara, et al.

Journal of Human Genetics|May 2, 2025

Hemizygous SMARCA1 variants cause X-linked intellectual disabilityNaoto Nishimura, Takeshi Mizuguchi, Keisuke Hamada, et al.

American Journal of Medical Genetics. Part A|August 18, 2020

Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndromeHiroaki Murakami, Yoshinori Tsurusaki, Keisuke Enomoto, et al.

Journal of Human Genetics|December 17, 2025

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disordersYukina Hayashi, Kenta Kajiwara, Seiji Mizuno, et al.

NPJ Genomic Medicine|August 26, 2025

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delayKohei Hamanaka, Atsushi Fujita, Satoko Miyatake, et al.

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