未登录.png)
分享.png)
收藏分享 收藏 分享 收藏 Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis
Kaname, Tadashi; Ki, Chang-Seok; Niikawa, Norio; Baillie, George S.; Day, Jonathan P.; Yamamura, Ken-ichi; Ohta, Tohru; Nishimura, Gen; Mastuura, Nobuo; Kim, Ok-Hwa; Sohn, Young Bae; Kim, Hyun Woo; Cho, Sung Yoon; Ko, Ah-Ra; Lee, Jin Young; Kim, Hyun Wook; Ryu, Sung Ho; Rhee, Hwanseok; Yang, Kap-Seok; Joo, Keehyoung; Lee, Jooyoung; Kim, Chi Hwa; Cho, Kwang-Hyun; Kim, Dongsan; Yanagi, Kumiko; Naritomi, Kenji; Yoshiura, Ko-ichiro; Kondoh, Tatsuro; Nii, Eiji; Tonoki, Hidefumi; Houslay, Miles D.; Jin, Dong-Kyu 分享 收藏 Phenotypic consequences of genetic variation at hemizygous alleles:: Sotos syndrome is a contiguous gene syndrome incorporating coagulation factor twelve (FXII) deficiency半合子等位基因遗传变异的表型结果:: Sotos综合征是一种合并凝血因子十二 (FXII) 缺陷的连续基因综合征Kurotaki, N; Shen, JJ; Touyama, M; Kondoh, T; Visser, R; Ozaki, T; Nishimoto, J; Shiihara, T; Uetake, K; Makita, Y; Harada, N; Raskin, S; Brown, CW; Höglund, P; Okamoto, N; Lupski, JR 分享 收藏 Fifty microdeletions among 112 cases of Sotos syndrome: low copy repeats possibly mediate the common deletionKurotaki, N; Harada, N; Shimokawa, O; Miyake, N; Kawame, H; Uetake, K; Makita, Y; Kondoh, T; Ogata, T; Hasegawa, T; Nagai, T; Ozaki, T; Touyama, M; Shenhav, R; Ohashi, H; Medne, L; Shiihara, T; Ohtsu, S; Kato, Z; Okamoto, N; Nishimoto, J; Lev, D; Miyoshi, Y; Ishikiriyama, S; Sonoda, T; Sakazume, S; Fukushima, Y; Kurosawa, K; Cheng, JF; Yoshiura, K; Ohta, T; Kishino, T; Niikawa, N; Matsumoto, N 分享 收藏 分享 收藏 Preferential paternal origin of microdeletions caused by prezygotic chromosome or chromatid rearrangements in Sotos syndromeMiyake, N; Kurotaki, N; Sugawara, H; Shimokawa, O; Harada, N; Kondoh, T; Tsukahara, M; Ishikiriyama, S; Sonoda, T; Miyoshi, Y; Sakazume, S; Fukushima, Y; Ohashi, H; Nagai, T; Kawame, H; Kurosawa, K; Touyama, M; Shiihara, T; Okamoto, N; Nishimoto, J; Yoshiura, K; Ohta, T; Kishino, T; Niikawa, N; Matsumoto, N 分享 收藏 Haploinsufficiency of NSD1 causes Sotos syndromeKurotaki, N; Imaizumi, K; Harada, N; Masuno, M; Kondoh, T; Nagai, T; Ohashi, H; Naritomi, K; Tsukahara, M; Makita, Y; Sugimoto, T; Sonoda, T; Hasegawa, T; Chinen, Y; Tomita, H; Kinoshita, A; Mizuguchi, T; Yoshiura, K; Ohta, T; Kishino, T; Fukushima, Y; Niikawa, N; Matsumoto, N 分享 收藏 Spontaneous in vivo reversion of an inherited mutation in the Wiskott-Aldrich syndromeAriga, T; Kondoh, T; Yamaguchi, K; Yamada, M; Sasaki, S; Nelson, DL; Ikeda, H; Kobayashi, K; Moriuchi, H; Sakiyama, Y 分享 收藏 Determination of carrier status for the Wiskott-Aldrich syndrome by flow cytometric analysis of Wiskott-Aldrich syndrome protein expression in peripheral blood mononuclear cellsYamada, M; Ariga, T; Kawamura, N; Yamaguchi, K; Ohtsu, M; Nelson, DL; Kondoh, T; Kobayashi, I; Okano, M; Kobayashi, K; Sakiyama, Y 分享 收藏 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
