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Yoichi Matsubara

Showing results (31-40 of 165) with videos related to

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Molecular Genetics and Metabolism|October 7, 2004
Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyShigeo Kure, Kenichi Sato, Kunihiro Fujii, et al.
American Journal of Obstetrics and Gynecology|July 27, 2025
Prenatal diagnosis of fetal brain asymmetry with normal amniotic fluid genetic testing: a somatic variant in the brainRitsuko Kimata Pooh, Kyoko Itoh, Masayuki Endo, et al.
JIMD Reports|July 7, 2014
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)Sonya Dragneva, Monika Szyszka-Niagolov, Aneta Ivanova, et al.
Human Molecular Genetics|October 4, 2017
Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in miceShin-Ichi Inoue, Shingo Takahara, Takeo Yoshikawa, et al.
Journal of Pediatric Hematology/Oncology|May 8, 2007
Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogeneYoshio Makita, Yoko Narumi, Makoto Yoshida, et al.
Journal of Human Genetics|March 16, 2021
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1Kumiko Yanagi, Noriko Morimoto, Manami Iso, et al.
The Journal of Pediatrics|June 12, 2004
Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patientsShigeo Kure, Akiko Ichinohe, Kanako Kojima, et al.
Digestive Diseases and Sciences|December 11, 2014
Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitisEriko Nakano, Atsushi Masamune, Tetsuya Niihori, et al.
American Journal of Medical Genetics. Part A|November 27, 2014
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentiginesEriko Nishi, Seiji Mizuno, Yuka Nanjo, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|May 3, 2008
Association of the GABRB3 gene with nonsyndromic oral cleftsHiroki Inoue, Shuji Kayano, Yoko Aoki, et al.
Pageof 17

Showing results (31-40 of 165) with videos related to

Sort By:
Pageof 17
Molecular Genetics and Metabolism|October 7, 2004
Wild-type phenylalanine hydroxylase activity is enhanced by tetrahydrobiopterin supplementation in vivo: an implication for therapeutic basis of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiencyShigeo Kure, Kenichi Sato, Kunihiro Fujii, et al.
American Journal of Obstetrics and Gynecology|July 27, 2025
Prenatal diagnosis of fetal brain asymmetry with normal amniotic fluid genetic testing: a somatic variant in the brainRitsuko Kimata Pooh, Kyoko Itoh, Masayuki Endo, et al.
JIMD Reports|July 7, 2014
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP)Sonya Dragneva, Monika Szyszka-Niagolov, Aneta Ivanova, et al.
Human Molecular Genetics|October 4, 2017
Activated Braf induces esophageal dilation and gastric epithelial hyperplasia in miceShin-Ichi Inoue, Shingo Takahara, Takeo Yoshikawa, et al.
Journal of Pediatric Hematology/Oncology|May 8, 2007
Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogeneYoshio Makita, Yoko Narumi, Makoto Yoshida, et al.
Journal of Human Genetics|March 16, 2021
A novel missense variant of the GNAI3 gene and recognisable morphological characteristics of the mandibula in ARCND1Kumiko Yanagi, Noriko Morimoto, Manami Iso, et al.
The Journal of Pediatrics|June 12, 2004
Mild variant of nonketotic hyperglycinemia with typical neonatal presentations: mutational and in vitro expression analyses in two patientsShigeo Kure, Akiko Ichinohe, Kanako Kojima, et al.
Digestive Diseases and Sciences|December 11, 2014
Targeted next-generation sequencing effectively analyzed the cystic fibrosis transmembrane conductance regulator gene in pancreatitisEriko Nakano, Atsushi Masamune, Tetsuya Niihori, et al.
American Journal of Medical Genetics. Part A|November 27, 2014
A novel heterozygous MAP2K1 mutation in a patient with Noonan syndrome with multiple lentiginesEriko Nishi, Seiji Mizuno, Yuka Nanjo, et al.
The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association|May 3, 2008
Association of the GABRB3 gene with nonsyndromic oral cleftsHiroki Inoue, Shuji Kayano, Yoko Aoki, et al.
Pageof 17