Thư viện Đại học Công nghệ Tp.HCM

Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episign...
	Tác giả: Takeshi Mizuguchi, Nobuhiko Okamoto, Atsushi Fujita, Kazuharu Misawa, Kazuhiko Nakabayashi, Satoko Miyatake, Naomichi Matsumoto, Taiki Hara, Naoto Nishimura, Masamune Sakamoto, Li Fu, Yuri Uchiyama, Naomi Tsuchida, Kohei Hamanaka, Eriko Koshimizu
	Xuất bản: Germany: Clinical epigenetics , 2025
	Bộ sưu tập: NCBI
	ddc: Thêm vào giỏ

Biallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications
	Tác giả: Noriko Miyake, Kentaro Shiga, Yukiko Imai, Noriyoshi Sakai, Tomonori Hirose, Atsushi Fujita, Hidehisa Takahashi, Nobuhiko Okamoto, Mikako Enokizono, Shiho Iwasaki, Shuichi Ito, Naomichi Matsumoto, Yuya Hasegawa, Chisato Iwabuchi, Kohei Shiroshita, Hiroshi Kobayashi, Keiyo Takubo, Fabien Velilla, Akiteru Maeno, Toshihiro Kawasaki
	Xuất bản: England: European journal of human genetics : EJHG , 2025
	Bộ sưu tập: NCBI
	ddc: Thêm vào giỏ

The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
	Tác giả: Francesco Gavazzi, Brittany Charsar, Kayla Muirhead, Asako Takanohashi, Joshua L Bonkowsky, Kelsee Meyerhoffer, Cas Simons, Hiroshi Doi, Miyatake Satoko, Naomichi Matsumoto, Mauricio R Delgado, Meredith Sanchez-Castillo, Eline Hamilton, Jingming Wang, Daniel Rocha de Carvalho, Ivailo Tournev, Teodora Chamova, Albena Jordanova, Nancy J Clegg, Francesco Nicita, Enrico Bertini, Michelle Teng, Dan Williams, Jacqueline A Erler, Davide Tonduti, Henry Houlden, Menno Stellingwerff, Evangeline Wassmer, Angeles Garcia-Cazorla, Geneviève Bernard, Amytice Mirchi, Helia Toutounchi, Nicole I Wolf, Marjo S van der Knaap, Virali Patel, Justine Shults, Laura A Adang, Adeline L Vanderver, Sarah Woidill, Anjana Sevagamoorthy, Guy Helman, Johanna Schmidt, Amy Pizzino
	Xuất bản: United States: Molecular genetics and metabolism , 2025
	Bộ sưu tập: NCBI
	ddc: Thêm vào giỏ