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Yumi Enomoto

Showing results (11-20 of 50) with videos related to

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American Journal of Medical Genetics. Part A|June 26, 2024
GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesisYukiko Kuroda, Takeshi Uehara, Yumi Enomoto, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
PHACES-like syndrome with TMEM260 compound heterozygous variantsYukiko Kuroda, Yoko Saito, Yumi Enomoto, et al.
European Journal of Medical Genetics|September 21, 2023
A CAMK2B variant associated with tetralogy of Fallot, developmental delay, and growth retardationYuji Horii, Yukiko Kuroda, Yoko Saito, et al.
American Journal of Medical Genetics. Part A|May 14, 2024
Noonan syndrome-like phenotype associated with an ERF frameshift variantYasuhiro Hirano, Yukiko Kuroda, Yumi Enomoto, et al.
Congenital Anomalies|January 31, 2018
Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphismsYuichi Kimura, Moe Akahira-Azuma, Noriaki Harada, et al.
Human Genome Variation|October 16, 2020
Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel <i>GRIN1</i> variantNaoto Nishimura, Tatsuro Kumaki, Hiroaki Murakami, et al.
Molecular Syndromology|June 16, 2022
Delineation of a Phenotype Caused by a <i>KAT6B</i> Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar SyndromesNaoto Nishimura, Yumi Enomoto, Tatsuro Kumaki, et al.
Brain & Development|February 24, 2019
Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exonYukiko Kuroda, Hiroaki Murakami, Takayuki Yokoi, et al.
Human Genome Variation|June 15, 2017
A novel <i>UBE2A</i> mutation causes X-linked intellectual disability type NascimentoYoshinori Tsurusaki, Ikuko Ohashi, Yumi Enomoto, et al.
Brain & Development|January 21, 2020
Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15Hiroaki Murakami, Tomoko Uehara, Yoshinori Tsurusaki, et al.
Pageof 5

Showing results (11-20 of 50) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics. Part A|June 26, 2024
GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesisYukiko Kuroda, Takeshi Uehara, Yumi Enomoto, et al.
American Journal of Medical Genetics. Part A|May 15, 2023
PHACES-like syndrome with TMEM260 compound heterozygous variantsYukiko Kuroda, Yoko Saito, Yumi Enomoto, et al.
European Journal of Medical Genetics|September 21, 2023
A CAMK2B variant associated with tetralogy of Fallot, developmental delay, and growth retardationYuji Horii, Yukiko Kuroda, Yoko Saito, et al.
American Journal of Medical Genetics. Part A|May 14, 2024
Noonan syndrome-like phenotype associated with an ERF frameshift variantYasuhiro Hirano, Yukiko Kuroda, Yumi Enomoto, et al.
Congenital Anomalies|January 31, 2018
Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphismsYuichi Kimura, Moe Akahira-Azuma, Noriaki Harada, et al.
Human Genome Variation|October 16, 2020
Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel <i>GRIN1</i> variantNaoto Nishimura, Tatsuro Kumaki, Hiroaki Murakami, et al.
Molecular Syndromology|June 16, 2022
Delineation of a Phenotype Caused by a <i>KAT6B</i> Missense Variant Not Resembling Say-Barber-Biesecker-Young-Simpson and Genitopatellar SyndromesNaoto Nishimura, Yumi Enomoto, Tatsuro Kumaki, et al.
Brain & Development|February 24, 2019
Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exonYukiko Kuroda, Hiroaki Murakami, Takayuki Yokoi, et al.
Human Genome Variation|June 15, 2017
A novel <i>UBE2A</i> mutation causes X-linked intellectual disability type NascimentoYoshinori Tsurusaki, Ikuko Ohashi, Yumi Enomoto, et al.
Brain & Development|January 21, 2020
Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15Hiroaki Murakami, Tomoko Uehara, Yoshinori Tsurusaki, et al.
Pageof 5