未登录 分享 收藏
分享 收藏
Genetic analysis of epidermolysis bullosa: Identification of mutations in LAMB3 and COL7A1 genes in three families Farooq, Muhammad; Kurban, Mazen; Iguchi, Ryo; Abbas, Ossama; Fujimoto, Atsushi; Fujikawa, Hiroki; Bourji, Lamah; Sleiman, Rima; Itani, Salam; Succariah, Farah; Kibbi, Abdul Ghani; Shimomura, Yutaka 分享 收藏
分享 收藏
分享 收藏
分享 收藏
分享 收藏
A Homozygous Frameshift Mutation in the HOXC13 Gene Underlies Pure Hair and Nail Ectodermal Dysplasia in a Syrian Family Farooq, Muhammad; Kurban, Mazen; Fujimoto, Atsushi; Fujikawa, Hiroki; Abbas, Ossama; Nemer, Georges; Saliba, Jessica; Sleiman, Rima; Tofaili, Mona; Kibbi, Abdul-Ghani; Ito, Masaaki; Shimomura, Yutaka 分享 收藏
分享 收藏
GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63 Fujimoto, Atsushi; Kurban, Mazen; Nakamura, Motonobu; Farooq, Muhammad; Fujikawa, Hiroki; Kibbi, Abdul-Ghani; Ito, Masaaki; Dahdah, Maurice; Matta, Mona; Diab, Hassan; Shimomura, Yutaka 分享 收藏
A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis 角蛋白K71基因的螺旋起始基序内的错义突变是常染色体显性遗传性羊毛/毛发不足的基础 Fujimoto, Atsushi; Farooq, Muhammad; Fujikawa, Hiroki; Inoue, Asuka; Ohyama, Manabu; Ehama, Ritsuko; Nakanishi, Jotaro; Hagihara, Motofumi; Iwabuchi, Tokuro; Aoki, Junken; Ito, Masaaki; Shimomura, Yutaka 分享 收藏
A novel mutation in the PLCD1 gene, which leads to an aberrant splicing event, underlies autosomal recessive leuconychia Farooq, M.; Kurban, M.; Abbas, O.; Obeidat, O.; Fujikawa, H.; Kibbi, A. -G.; Fujimoto, A.; Shimomura, Y. 分享 收藏
分享 收藏
分享 收藏
分享 收藏
A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function Hussain, Muhammad Sajid; Baig, Shahid Mahmood; Neumann, Sascha; Nuernberg, Gudrun; Farooq, Muhammad; Ahmad, Ilyas; Alef, Thomas; Hennies, Hans Christian; Technau, Martin; Altmueller, Janine; Frommolt, Peter; Thiele, Holger; Noegel, Angelika Anna; Nuernberg, Peter 分享 收藏
分享 收藏
分享 收藏