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

Yumi Enomoto

Showing results (1-10 of 50) with videos related to

Pageof 5
Sort By:
Human Genome Variation|May 22, 2020
Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorderTakayuki Yokoi, Yumi Enomoto, Takuya Naruto, et al.
Hiroshima Journal of Medical Sciences|June 27, 2008
Inference on biological mechanisms using an integrated phenotype prediction modelYumi Enomoto, Masaru Ushijima, Satoshi Miyata, et al.
Molecular Syndromology|December 11, 2025
A <i>TMEM260</i> Biallelic Deletion Underlies Truncus ArteriosusYumi Enomoto, Takuya Naruto, Jun Mitsui, et al.
Human Genome Variation|August 18, 2020
A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencingTakayuki Yokoi, Yumi Enomoto, Tomoko Uehara, et al.
Journal of Human Genetics|November 10, 2023
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1Hiroaki Murakami, Yumi Enomoto, Tatsuro Kumaki, et al.
Human Genome Variation|August 1, 2018
Nonsyndromic intellectual disability with novel heterozygous <i>SCN2A</i> mutation and epilepsyTakayuki Yokoi, Yumi Enomoto, Yoshinori Tsurusaki, et al.
American Journal of Medical Genetics. Part A|August 30, 2023
A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variantYukiko Kuroda, Yoko Saito, Yumi Enomoto, et al.
Human Genome Variation|April 6, 2018
Refining the clinical phenotype of Okur-Chung neurodevelopmental syndromeMoe Akahira-Azuma, Yoshinori Tsurusaki, Yumi Enomoto, et al.
Plos One|December 21, 2020
Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERTHiroaki Murakami, Norito Tamura, Yumi Enomoto, et al.
American Journal of Medical Genetics. Part A|February 5, 2022
Further delineation of SET-related intellectual disability syndromeKenta Shono, Yumi Enomoto, Yoshinori Tsurusaki, et al.
Pageof 5

Showing results (1-10 of 50) with videos related to

Sort By:
Pageof 5
Human Genome Variation|May 22, 2020
Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorderTakayuki Yokoi, Yumi Enomoto, Takuya Naruto, et al.
Hiroshima Journal of Medical Sciences|June 27, 2008
Inference on biological mechanisms using an integrated phenotype prediction modelYumi Enomoto, Masaru Ushijima, Satoshi Miyata, et al.
Molecular Syndromology|December 11, 2025
A <i>TMEM260</i> Biallelic Deletion Underlies Truncus ArteriosusYumi Enomoto, Takuya Naruto, Jun Mitsui, et al.
Human Genome Variation|August 18, 2020
A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencingTakayuki Yokoi, Yumi Enomoto, Tomoko Uehara, et al.
Journal of Human Genetics|November 10, 2023
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1Hiroaki Murakami, Yumi Enomoto, Tatsuro Kumaki, et al.
Human Genome Variation|August 1, 2018
Nonsyndromic intellectual disability with novel heterozygous <i>SCN2A</i> mutation and epilepsyTakayuki Yokoi, Yumi Enomoto, Yoshinori Tsurusaki, et al.
American Journal of Medical Genetics. Part A|August 30, 2023
A Japanese patient with Teebi hypertelorism syndrome and a novel CDH11 EC1 domain variantYukiko Kuroda, Yoko Saito, Yumi Enomoto, et al.
Human Genome Variation|April 6, 2018
Refining the clinical phenotype of Okur-Chung neurodevelopmental syndromeMoe Akahira-Azuma, Yoshinori Tsurusaki, Yumi Enomoto, et al.
Plos One|December 21, 2020
Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERTHiroaki Murakami, Norito Tamura, Yumi Enomoto, et al.
American Journal of Medical Genetics. Part A|February 5, 2022
Further delineation of SET-related intellectual disability syndromeKenta Shono, Yumi Enomoto, Yoshinori Tsurusaki, et al.
Pageof 5