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TitleAuthors Date of Issue
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)Hayashi, Shin; Uehara, Daniela Tiaki; Tanimoto, Kousuke; Mizuno, Seiji; Chinen, Yasutsugu; Fukumura, Shinobu; Takanashi, Jun-ichi; Osaka, Hitoshi; Okamoto, Nobuhiko; Inazawa, Johji14-Jun-2018
Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case reportYonamine, Tomoko; Kaname, Tadashi; Chinen, Yasutsugu; Tamashiro, Kouichi; Kosuge, Noritake; Saito, SeiichiMay-2020
Impact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndromeTomatsu, Shunji; Sawamoto, Kazuki; Almeciga-Diaz, Carlos J.; Shimada, Tsutomu; Bober, Michael B.; Chinen, Yasutsugu; Yabe, Hiromasa; Montano, Adriana M.; Giugliani, Roberto; Kubaski, Francyne; Yasuda, Eriko; Rodriguez-Lopez, Alexander; Espejp-Mojica, Angela J.; Sanchez, Oscar F.; Mason, Robert W.; Barrera, Luis A.; Mackenize, William G.; Orii, Tadao1-Apr-2015
Isovaleric acidemia : Therapeutic response to supplementation with glycine, l-carnitine, or both in combination and a 10-year follow-up case studyChinen, Yasutsugu; Nakamura, Sadao; Tamashiro, Kunihito; Sakamoto, Osamu; Tashiro, Kyoko; Inokuchi, Takahiro; Nakanishi, KoichiJun-2017
Mild prominence of the Sylvian fissure in a Bainbridge-Ropers syndrome patient with a novel frameshift variant in ASXL3Chinen, Yasutsugu; Nakamura, Sadao; Ganaha, Akira; Hayashi, Shin; Inazawa, Johji; Yanagi, Kumiko; Nakanishi, Koichi; Kaname, Tadashi; Naritomi, KenjiFeb-2018
A new mutation found in newborn screening for Fabry disease evaluated by plasma globotriaosylsphingosine levelsChinen, Yasutsugu; Nakamura, Sadao; Yoshida, Tomohide; Maruyama, Hiroki; Nakamura, Kimitoshi16-Feb-2017
A novel homozygous missense SLC25A20 mutation in three CACT-deficient patients : clinical and autopsy dataChinen, Yasutsugu; Yanagi, Kumiko; Nakamura, Sadao; Nakayama, Noriko; Kamiya, Motoko; Nakayashiro, Mami; Kaname, Tadashi; Naritomi, Kenji; Nakanishi, Koichi16-Apr-2020
A novel nonsense SMC1A mutation in a patient with intractable epilepsy and cardiac malformationChinen, Yasutsugu; Nakamura, Sadao; Kaneshi, Takuya; Nakayashiro, Mami; Yanagi, Kumiko; Kaname, Tadashi; Naritomi, Kenji; Nakanishi, Koichi13-May-2019

Showing 8 items.