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Takeshi Mizuguchi

Showing results (71-80 of 185) with videos related to

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Brain & Development|November 25, 2020
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiencyAtsushi Morita, Takashi Enokizono, Tatsuyuki Ohto, et al.
BMC Neurology|October 29, 2019
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case reportKouhei Den, Yosuke Kudo, Mitsuhiro Kato, et al.
Journal of Human Genetics|June 16, 2020
Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypesHiromi Aoi, Ming Lei, Takeshi Mizuguchi, et al.
Journal of Human Genetics|July 5, 2019
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1Ken Saida, Chong Ae Kim, José Ricardo Magliocco Ceroni, et al.
Genetics|September 12, 2015
Single-Nucleotide-Specific Targeting of the Tf1 Retrotransposon Promoted by the DNA-Binding Protein Sap1 of Schizosaccharomyces pombeAnthony Hickey, Caroline Esnault, Anasuya Majumdar, et al.
Annals of Clinical and Translational Neurology|May 28, 2016
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartomaHirotomo Saitsu, Masaki Sonoda, Takefumi Higashijima, et al.
Journal of Human Genetics|November 6, 2025
Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndromeQiaowei Liang, Yuri Uchiyama, Rie Seyama, et al.
Journal of Human Genetics|January 18, 2018
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathyKazuhiro Iwama, Toru Takaori, Ai Fukushima, et al.
American Journal of Medical Genetics. Part A|March 9, 2007
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactylyAkira Nishimura, Haruya Sakai, Shiro Ikegawa, et al.
Human Mutation|October 7, 2021
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndromeKoki Nagai, Tetsuya Niihori, Nobuhiko Okamoto, et al.
Pageof 19

Showing results (71-80 of 185) with videos related to

Sort By:
Pageof 19
Brain & Development|November 25, 2020
Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiencyAtsushi Morita, Takashi Enokizono, Tatsuyuki Ohto, et al.
BMC Neurology|October 29, 2019
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case reportKouhei Den, Yosuke Kudo, Mitsuhiro Kato, et al.
Journal of Human Genetics|June 16, 2020
Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypesHiromi Aoi, Ming Lei, Takeshi Mizuguchi, et al.
Journal of Human Genetics|July 5, 2019
Hemorrhagic stroke and renovascular hypertension with Grange syndrome arising from a novel pathogenic variant in YY1AP1Ken Saida, Chong Ae Kim, José Ricardo Magliocco Ceroni, et al.
Genetics|September 12, 2015
Single-Nucleotide-Specific Targeting of the Tf1 Retrotransposon Promoted by the DNA-Binding Protein Sap1 of Schizosaccharomyces pombeAnthony Hickey, Caroline Esnault, Anasuya Majumdar, et al.
Annals of Clinical and Translational Neurology|May 28, 2016
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartomaHirotomo Saitsu, Masaki Sonoda, Takefumi Higashijima, et al.
Journal of Human Genetics|November 6, 2025
Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndromeQiaowei Liang, Yuri Uchiyama, Rie Seyama, et al.
Journal of Human Genetics|January 18, 2018
Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathyKazuhiro Iwama, Toru Takaori, Ai Fukushima, et al.
American Journal of Medical Genetics. Part A|March 9, 2007
FBN2, FBN1, TGFBR1, and TGFBR2 analyses in congenital contractural arachnodactylyAkira Nishimura, Haruya Sakai, Shiro Ikegawa, et al.
Human Mutation|October 7, 2021
Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndromeKoki Nagai, Tetsuya Niihori, Nobuhiko Okamoto, et al.
Pageof 19