Search research articles
Contact Us
Filters
Showing results (101-110 of 112) with videos related to
Page
of 12
Sort By:
Brain & Development
|
March 14, 2012
Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations
Junpei Tanigawa, Kaori Kaneko, Masakazu Honda, et al.
The Journal of Pathology
|
June 29, 2004
Possible linkage between specific histological structures and aberrant reactivation of the Wnt pathway in adamantinomatous craniopharyngioma
Keisuke Kato, Yukio Nakatani, Hiroshi Kanno, et al.
Journal of Pediatric Hematology/Oncology
|
June 24, 2006
Congenital neuroblastoma in a patient with partial trisomy of 2p
Yuri Dowa, Toshiyuki Yamamoto, Yasuko Abe, et al.
Journal of Pediatric Surgery
|
April 19, 2011
Papillary carcinoma with extensive squamous metaplasia arising from thyroglossal duct cyst in an 11-year-old girl: significance of differentiation from squamous cell carcinoma: a case report
Kiyoshi Gomi, Norihiko Kitagawa, Yoshiko Usui, et al.
Journal of Human Genetics
|
April 1, 2016
WDR45 mutations in three male patients with West syndrome
Mitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, et al.
Brain & Development
|
December 3, 2014
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy
Kyoko Takano, Yu Tsuyusaki, Mutsumi Sato, et al.
Brain & Development
|
September 19, 2013
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8
Hidekazu Kato, Fuyu Miyake, Hiroko Shimbo, et al.
Molecular Genetics and Metabolism
|
April 5, 2012
Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness
Hitoshi Osaka, Atsushi Takagi, Yu Tsuyusaki, et al.
European Journal of Human Genetics : EJHG
|
October 30, 2025
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis
Maki Iwai, Kyra E Stuurman, Kirsten Meagher, et al.
Neurogenetics
|
October 5, 2013
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
Chihiro Ohba, Hitoshi Osaka, Mizue Iai, et al.
Page
of 12
Search research articles
Search
Showing results (101-110 of 112) with videos related to
Sort By:
Page
of 12
Brain & Development
|
March 14, 2012
Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations
Junpei Tanigawa, Kaori Kaneko, Masakazu Honda, et al.
The Journal of Pathology
|
June 29, 2004
Possible linkage between specific histological structures and aberrant reactivation of the Wnt pathway in adamantinomatous craniopharyngioma
Keisuke Kato, Yukio Nakatani, Hiroshi Kanno, et al.
Journal of Pediatric Hematology/Oncology
|
June 24, 2006
Congenital neuroblastoma in a patient with partial trisomy of 2p
Yuri Dowa, Toshiyuki Yamamoto, Yasuko Abe, et al.
Journal of Pediatric Surgery
|
April 19, 2011
Papillary carcinoma with extensive squamous metaplasia arising from thyroglossal duct cyst in an 11-year-old girl: significance of differentiation from squamous cell carcinoma: a case report
Kiyoshi Gomi, Norihiko Kitagawa, Yoshiko Usui, et al.
Journal of Human Genetics
|
April 1, 2016
WDR45 mutations in three male patients with West syndrome
Mitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, et al.
Brain & Development
|
December 3, 2014
A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy
Kyoko Takano, Yu Tsuyusaki, Mutsumi Sato, et al.
Brain & Development
|
September 19, 2013
Urine screening for patients with developmental disabilities detected a patient with creatine transporter deficiency due to a novel missense mutation in SLC6A8
Hidekazu Kato, Fuyu Miyake, Hiroko Shimbo, et al.
Molecular Genetics and Metabolism
|
April 5, 2012
Contiguous deletion of SLC6A8 and BAP31 in a patient with severe dystonia and sensorineural deafness
Hitoshi Osaka, Atsushi Takagi, Yu Tsuyusaki, et al.
European Journal of Human Genetics : EJHG
|
October 30, 2025
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis
Maki Iwai, Kyra E Stuurman, Kirsten Meagher, et al.
Neurogenetics
|
October 5, 2013
Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood
Chihiro Ohba, Hitoshi Osaka, Mizue Iai, et al.
Page
of 12