検索結果 - Gen Nishimura

Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations 著者: Manisha Goyal, Seema Kapoor, Shiro Ikegawa, Gen Nishimura

全文の入手

A Case Report of Cervical Digit: Heterogeneous Condition 著者: Gakuto Ujiie, Yuya Nakano, Katsumi Mizuno, Gen Nishimura

全文の入手

A girl with intragenic variants in MARS2 and a chondrodysplasia phenotype 著者: Hiroyuki Iijima, Yuko Tsujioka, Yoshiyuki Tsutsumi, Gen Nishimura, Yasushi Okazaki, Kei Murayama, Mitsuru Kubota, Akira Ohtake

全文の入手

Molecular Basis for Hypochondroplasia in Japan 著者: Tomohiro Ishii, Masaki Takagi, Keisuke Nagasaki, Toshio Ohara, Kentaro Miyai, Tomoki Kosho, Fumio Takada, Gen Nishimura, Tomonobu Hasegawa

全文の入手

Unclassifiable short-rib thoracic dysplasia diagnosed using targeted gene panel sequencing 著者: Erika Nakajima, Yuko Yokohama, Saori Sugiyama, Mio Taketazu, Kenrokuro Mitsube, Takahiro Yamada, Anna Hammarsjö, Giedre Grigelioniene, Gen Nishimura, Yoshio Makita

全文の入手

Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome 著者: Alexandra Garza Flores, Alexandra Garza Flores, Ida Nordgren, Maria Pettersson, Maria Pettersson, Dora Dias-Santagata, Daniel Nilsson, Daniel Nilsson, Anna Hammarsjö, Anna Hammarsjö, Anna Lindstrand, Anna Lindstrand, Dominyka Batkovskyte, Janey Wiggs, David S. Walton, Paula Goldenberg, Jesper Eisfeldt, Jesper Eisfeldt, Angela E. Lin, Ralph S. Lachman, Ralph S. Lachman, Ralph S. Lachman, Gen Nishimura, Gen Nishimura, Giedre Grigelioniene, Giedre Grigelioniene, Giedre Grigelioniene

全文の入手

Clinical, genetic and structural delineation of RPL13-related spondyloepimetaphyseal dysplasia suggest extra-ribosomal functions of eL13 著者: Prince Jacob, Hillevi Lindelöf, Cecilie F. Rustad, Vernon Reid Sutton, Shahida Moosa, Prajna Udupa, Anna Hammarsjö, Gandham SriLakshmi Bhavani, Dominyka Batkovskyte, Kristian Tveten, Ashwin Dalal, Eva Horemuzova, Ann Nordgren, Emma Tham, Hitesh Shah, Else Merckoll, Laura Orellana, Gen Nishimura, Katta M. Girisha, Giedre Grigelioniene

全文の入手

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations. 著者: Zheng Wang, Aritoshi Iida, Noriko Miyake, Koji M Nishiguchi, Kosuke Fujita, Toru Nakazawa, Abdulrahman Alswaid, Mohammed A Albalwi, Ok-Hwa Kim, Tae-Joon Cho, Gye-Yeon Lim, Bertrand Isidor, Albert David, Cecilie F Rustad, Else Merckoll, Jostein Westvik, Eva-Lena Stattin, Giedre Grigelioniene, Ikuyo Kou, Masahiro Nakajima, Hirohumi Ohashi, Sarah Smithson, Naomichi Matsumoto, Gen Nishimura, Shiro Ikegawa

全文の入手