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Human Molecular Genetics
|
October 17, 2015
Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype
Mitsuji Moriya, Shin-Ichi Inoue, Sachiko Miyagawa-Tomita, et al.
Human Molecular Genetics
|
July 19, 2014
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome
Shin-Ichi Inoue, Mitsuji Moriya, Yusuke Watanabe, et al.
Plos One
|
March 19, 2014
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia
Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka, et al.
Cytogenetic and Genome Research
|
March 14, 2015
Microhomology-mediated microduplication in the y chromosomal azoospermia factor a region in a male with mild asthenozoospermia
Momori Katsumi, Hiromichi Ishikawa, Yoko Tanaka, et al.
Human Molecular Genetics
|
April 18, 2003
Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness
Takayuki Kudo, Shigeo Kure, Katsuhisa Ikeda, et al.
Annals of Neurology
|
October 29, 2002
Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia
Shigeo Kure, Kanako Kojima, Akiko Ichinohe, et al.
Journal of Cardiovascular Electrophysiology
|
February 22, 2005
Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene
Jun Otomo, Shigeo Kure, Tomoko Shiba, et al.
American Journal of Medical Genetics. Part A
|
August 17, 2013
A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation
Kazuhito Sekiguchi, Tomoki Maeda, So-ichi Suenobu, et al.
Investigative Ophthalmology & Visual Science
|
June 1, 2017
A Histologic Categorization of Aqueous Outflow Routes in Familial Open-Angle Glaucoma and Associations With Mutations in the MYOC Gene in Japanese Patients
Teruhiko Hamanaka, Masae Kimura, Tetsuro Sakurai, et al.
International Journal of Dermatology
|
May 15, 2020
Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca
Naoki Oiso, Akiharu Kubo, Akira Shimizu, et al.
Page
of 17
Search research articles
Search
Showing results (81-90 of 165) with videos related to
Sort By:
Page
of 17
Human Molecular Genetics
|
October 17, 2015
Adult mice expressing a Braf Q241R mutation on an ICR/CD-1 background exhibit a cardio-facio-cutaneous syndrome phenotype
Mitsuji Moriya, Shin-Ichi Inoue, Sachiko Miyagawa-Tomita, et al.
Human Molecular Genetics
|
July 19, 2014
New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome
Shin-Ichi Inoue, Mitsuji Moriya, Yusuke Watanabe, et al.
Plos One
|
March 19, 2014
TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia
Tsutomu Ogata, Tetsuya Niihori, Noriko Tanaka, et al.
Cytogenetic and Genome Research
|
March 14, 2015
Microhomology-mediated microduplication in the y chromosomal azoospermia factor a region in a male with mild asthenozoospermia
Momori Katsumi, Hiromichi Ishikawa, Yoko Tanaka, et al.
Human Molecular Genetics
|
April 18, 2003
Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness
Takayuki Kudo, Shigeo Kure, Katsuhisa Ikeda, et al.
Annals of Neurology
|
October 29, 2002
Heterozygous GLDC and GCSH gene mutations in transient neonatal hyperglycinemia
Shigeo Kure, Kanako Kojima, Akiko Ichinohe, et al.
Journal of Cardiovascular Electrophysiology
|
February 22, 2005
Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene
Jun Otomo, Shigeo Kure, Tomoko Shiba, et al.
American Journal of Medical Genetics. Part A
|
August 17, 2013
A transient myelodysplastic/myeloproliferative neoplasm in a patient with cardio-facio-cutaneous syndrome and a germline BRAF mutation
Kazuhito Sekiguchi, Tomoki Maeda, So-ichi Suenobu, et al.
Investigative Ophthalmology & Visual Science
|
June 1, 2017
A Histologic Categorization of Aqueous Outflow Routes in Familial Open-Angle Glaucoma and Associations With Mutations in the MYOC Gene in Japanese Patients
Teruhiko Hamanaka, Masae Kimura, Tetsuro Sakurai, et al.
International Journal of Dermatology
|
May 15, 2020
Epidermodysplasia verruciformis without progression to squamous cell carcinomas in an elderly man: α-human papillomavirus infection in the evolving verruca
Naoki Oiso, Akiharu Kubo, Akira Shimizu, et al.
Page
of 17