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Nature Communications
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October 29, 2025
Rescue of imprinted genes by epigenome editing in human cellular models of Prader-Willi syndrome
Akisa Nemoto, Kent Imaizumi, Fuyuki Miya, et al.
Brain & Development
|
February 3, 2016
ALDH18A1-related cutis laxa syndrome with cyclic vomiting
Fumihito Nozaki, Takashi Kusunoki, Nobuhiko Okamoto, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2024
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly
Mamiko Yamada, Seiji Mizuno, Mie Inaba, et al.
European Journal of Medical Genetics
|
November 21, 2024
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model
Daisuke Nakato, Yuri Yasue, Kohei Matsubara, et al.
European Journal of Medical Genetics
|
September 17, 2025
ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape
Yuya Tanaka, Mamiko Yamada, Fuyuki Miya, et al.
Immunity
|
May 18, 2017
Identification of a Human Clonogenic Progenitor with Strict Monocyte Differentiation Potential: A Counterpart of Mouse cMoPs
Shunsuke Kawamura, Nobuyuki Onai, Fuyuki Miya, et al.
Brain & Development
|
December 17, 2021
Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A
Kouji Isobe, Daisuke Ieda, Fuyuki Miya, et al.
American Journal of Medical Genetics. Part A
|
October 15, 2021
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome
Eriko Nishi, Toshiki Takenouchi, Fuyuki Miya, et al.
Congenital Anomalies
|
December 1, 2024
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome
Yu Yamaguchi, Hironobu Okuno, Suzumi Tokuoka, et al.
The Journal of Allergy and Clinical Immunology. Global
|
September 10, 2024
Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure
Koji Saito, Minoru Fujimoto, Eiji Funajima, et al.
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Search research articles
Search
Showing results (41-50 of 109) with videos related to
Sort By:
Page
of 11
Nature Communications
|
October 29, 2025
Rescue of imprinted genes by epigenome editing in human cellular models of Prader-Willi syndrome
Akisa Nemoto, Kent Imaizumi, Fuyuki Miya, et al.
Brain & Development
|
February 3, 2016
ALDH18A1-related cutis laxa syndrome with cyclic vomiting
Fumihito Nozaki, Takashi Kusunoki, Nobuhiko Okamoto, et al.
American Journal of Medical Genetics. Part A
|
April 2, 2024
Truncating variants of the sterol recognition region of SHH cause hypertelorism phenotype rather than hypotelorism-holoprosencephaly
Mamiko Yamada, Seiji Mizuno, Mie Inaba, et al.
European Journal of Medical Genetics
|
November 21, 2024
De novo variants in UPF1 associated with intellectual disabilities: Human genetic and functional evidences using Drosophila model
Daisuke Nakato, Yuri Yasue, Kohei Matsubara, et al.
European Journal of Medical Genetics
|
September 17, 2025
ARID1A gene variants and fetal hydrocephalus: First evidence of mRNA decay escape
Yuya Tanaka, Mamiko Yamada, Fuyuki Miya, et al.
Immunity
|
May 18, 2017
Identification of a Human Clonogenic Progenitor with Strict Monocyte Differentiation Potential: A Counterpart of Mouse cMoPs
Shunsuke Kawamura, Nobuyuki Onai, Fuyuki Miya, et al.
Brain & Development
|
December 17, 2021
Hemorrhagic shock and encephalopathy syndrome in a patient with a de novo heterozygous variant in KIF1A
Kouji Isobe, Daisuke Ieda, Fuyuki Miya, et al.
American Journal of Medical Genetics. Part A
|
October 15, 2021
The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome
Eriko Nishi, Toshiki Takenouchi, Fuyuki Miya, et al.
Congenital Anomalies
|
December 1, 2024
Accumulation of ether phospholipids in induced pluripotent stem cells and oligodendrocyte-lineage cells established from patients with Sjögren-Larsson syndrome
Yu Yamaguchi, Hironobu Okuno, Suzumi Tokuoka, et al.
The Journal of Allergy and Clinical Immunology. Global
|
September 10, 2024
Novel germline STAT3 gain-of-function mutation causes autoimmune diseases and severe growth failure
Koji Saito, Minoru Fujimoto, Eiji Funajima, et al.
Page
of 11