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Mamiko Yamada

Showing results (11-20 of 86) with videos related to

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Congenital Anomalies|March 22, 2023
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruptionMamiko Yamada, Hisato Suzuki, Fuyuki Miya, et al.
Journal of Clinical Medicine|March 11, 2023
Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers-Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate EpimeraseYuji Yoshikawa, Takashi Koto, Tomoka Ishida, et al.
BMC Neurology|January 11, 2022
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case reportMamiko Yamada, Hisato Suzuki, Hiroyuki Adachi, et al.
European Journal of Medical Genetics|April 19, 2022
Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndromeMamiko Yamada, Hisato Suzuki, Hiroshi Futagawa, et al.
American Journal of Medical Genetics. Part A|March 2, 2021
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variantsMamiko Yamada, Masae Ono, Tomohiro Ishii, et al.
European Journal of Medical Genetics|January 1, 2023
Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencingMamiko Yamada, Hironobu Okuno, Nobuhiko Okamoto, et al.
Journal of Medical Ultrasonics (2001)|June 10, 2016
Hepatic cyst with intracystic bleeding: contrast-enhanced sonographic findingsHiroko Naganuma, Masato Funaoka, Syuusei Fujimori, et al.
BMC Genomics|October 10, 2023
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant SplicingRyo Kurosawa, Kei Iida, Masahiko Ajiro, et al.
Journal of Pediatric Surgery|March 26, 2002
Evaluation of anorectal functions of children with anorectal malformations using fecoflowmetryHiroyuki Kayaba, Tatsuzo Hebiguchi, Hiroaki Yoshino, et al.
BMC Neurology|June 1, 2023
Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case reportShogo Ouchi, Kazuhiro Ishii, Kenjiro Kosaki, et al.
Pageof 9

Showing results (11-20 of 86) with videos related to

Sort By:
Pageof 9
Congenital Anomalies|March 22, 2023
Precise definition of the breakpoints of an apparently balanced translocation between chromosome 3q26 and chromosome 7q36: Role of KMT2C disruptionMamiko Yamada, Hisato Suzuki, Fuyuki Miya, et al.
Journal of Clinical Medicine|March 11, 2023
Rhegmatogenous Retinal Detachment in Musculocontractural Ehlers-Danlos Syndrome Caused by Biallelic Loss-of-Function Variants of Gene for Dermatan Sulfate EpimeraseYuji Yoshikawa, Takashi Koto, Tomoka Ishida, et al.
BMC Neurology|January 11, 2022
Diagnosis of SLC25A46-related pontocerebellar hypoplasia in two siblings with fulminant neonatal course: role of postmortem CT and whole genomic analysis: a case reportMamiko Yamada, Hisato Suzuki, Hiroyuki Adachi, et al.
European Journal of Medical Genetics|April 19, 2022
Phenotypic overlap between cardioacrofacial dysplasia-2 and oral-facial-digital syndromeMamiko Yamada, Hisato Suzuki, Hiroshi Futagawa, et al.
American Journal of Medical Genetics. Part A|March 2, 2021
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variantsMamiko Yamada, Masae Ono, Tomohiro Ishii, et al.
European Journal of Medical Genetics|January 1, 2023
Diagnosis of Prader-Willi syndrome and Angelman syndrome by targeted nanopore long-read sequencingMamiko Yamada, Hironobu Okuno, Nobuhiko Okamoto, et al.
Journal of Medical Ultrasonics (2001)|June 10, 2016
Hepatic cyst with intracystic bleeding: contrast-enhanced sonographic findingsHiroko Naganuma, Masato Funaoka, Syuusei Fujimori, et al.
BMC Genomics|October 10, 2023
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant SplicingRyo Kurosawa, Kei Iida, Masahiko Ajiro, et al.
Journal of Pediatric Surgery|March 26, 2002
Evaluation of anorectal functions of children with anorectal malformations using fecoflowmetryHiroyuki Kayaba, Tatsuzo Hebiguchi, Hiroaki Yoshino, et al.
BMC Neurology|June 1, 2023
Parkinsonism in spinocerebellar ataxia with axonal neuropathy caused by adult-onset COA7 variants: a case reportShogo Ouchi, Kazuhiro Ishii, Kenjiro Kosaki, et al.
Pageof 9