Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Daisuke Fukushi

Showing results (21-30 of 46) with videos related to

Pageof 5
Sort By:
Inflammatory Intestinal Diseases|December 15, 2023
Detection Rates of Non-Cavitary Epithelioid Cell Granuloma by Gastrointestinal Biopsy in Patients with Treatment-Naïve Crohn's DiseaseKatsuya Endo, Yoko Kawakami, Yuki Yoshino, et al.
Ultramicroscopy|June 13, 2003
Nano-scale imaging of chromosomes and DNA by scanning near-field optical/atomic force microscopyTomoyuki Yoshino, Shigeru Sugiyama, Shoji Hagiwara, et al.
Genes, Chromosomes & Cancer|July 20, 2007
Duplication of the paternal IGF2 allele in trisomy 11 and elevated expression levels of IGF2 mRNA in congenital mesoblastic nephroma of the cellular or mixed typeNaoki Watanabe, Masayuki Haruta, Hidenobu Soejima, et al.
American Journal of Medical Genetics. Part A|November 19, 2010
Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardationKenichiro Yamada, Daisuke Fukushi, Takao Ono, et al.
American Journal of Medical Genetics. Part A|March 22, 2021
R3HDM1 haploinsufficiency is associated with mild intellectual disabilityDaisuke Fukushi, Mie Inaba, Kimiko Katoh, et al.
Internal Medicine (Tokyo, Japan)|July 28, 2020
A Biliary Mucinous Cystic Neoplasm with Intrahepatic and Lymph Node MetastasesAkinobu Koiwai, Takayuki Kogure, Mari Satoh, et al.
Nucleosides, Nucleotides & Nucleic Acids|December 3, 2011
Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutationsYasukazu Yamada, Kenichiro Yamada, Noriko Nomura, et al.
American Journal of Medical Genetics. Part A|March 26, 2014
Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathyMisako Naiki, Nobuhiko Ochi, Yusuke S Kato, et al.
Journal of Medical Genetics|August 8, 2015
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretionKenichiro Yamada, Kaori Aiba, Yasuyuki Kitaura, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosisKenichiro Yamada, Misako Naiki, Shin Hoshino, et al.
Pageof 5

Showing results (21-30 of 46) with videos related to

Sort By:
Pageof 5
Inflammatory Intestinal Diseases|December 15, 2023
Detection Rates of Non-Cavitary Epithelioid Cell Granuloma by Gastrointestinal Biopsy in Patients with Treatment-Naïve Crohn's DiseaseKatsuya Endo, Yoko Kawakami, Yuki Yoshino, et al.
Ultramicroscopy|June 13, 2003
Nano-scale imaging of chromosomes and DNA by scanning near-field optical/atomic force microscopyTomoyuki Yoshino, Shigeru Sugiyama, Shoji Hagiwara, et al.
Genes, Chromosomes & Cancer|July 20, 2007
Duplication of the paternal IGF2 allele in trisomy 11 and elevated expression levels of IGF2 mRNA in congenital mesoblastic nephroma of the cellular or mixed typeNaoki Watanabe, Masayuki Haruta, Hidenobu Soejima, et al.
American Journal of Medical Genetics. Part A|November 19, 2010
Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardationKenichiro Yamada, Daisuke Fukushi, Takao Ono, et al.
American Journal of Medical Genetics. Part A|March 22, 2021
R3HDM1 haploinsufficiency is associated with mild intellectual disabilityDaisuke Fukushi, Mie Inaba, Kimiko Katoh, et al.
Internal Medicine (Tokyo, Japan)|July 28, 2020
A Biliary Mucinous Cystic Neoplasm with Intrahepatic and Lymph Node MetastasesAkinobu Koiwai, Takayuki Kogure, Mari Satoh, et al.
Nucleosides, Nucleotides & Nucleic Acids|December 3, 2011
Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutationsYasukazu Yamada, Kenichiro Yamada, Noriko Nomura, et al.
American Journal of Medical Genetics. Part A|March 26, 2014
Mutations in HADHB, which encodes the β-subunit of mitochondrial trifunctional protein, cause infantile onset hypoparathyroidism and peripheral polyneuropathyMisako Naiki, Nobuhiko Ochi, Yusuke S Kato, et al.
Journal of Medical Genetics|August 8, 2015
Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretionKenichiro Yamada, Kaori Aiba, Yasuyuki Kitaura, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosisKenichiro Yamada, Misako Naiki, Shin Hoshino, et al.
Pageof 5