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Takeshi Mizuguchi

Showing results (41-50 of 185) with videos related to

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Journal of Human Genetics|August 26, 2025
Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2Yukina Hayashi, Keisuke Hamada, Kavitha Rethanavelu, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing lossHirotomo Saitsu, Kenji Kurosawa, Hiroki Kawara, et al.
American Journal of Medical Genetics. Part A|May 2, 2008
Craniosynostosis in a patient with a de novo 15q15-q22 deletionYoko Hiraki, Miyuki Moriuchi, Nobuhiko Okamoto, et al.
Journal of Human Genetics|March 3, 2017
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndromeSatoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, et al.
Human Genome Variation|November 10, 2022
Distal 2q duplication in a patient with intellectual disabilityToshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, et al.
Nature|February 16, 2017
Untimely expression of gametogenic genes in vegetative cells causes uniparental disomyH Diego Folco, Venkata R Chalamcharla, Tomoyasu Sugiyama, et al.
Internal Medicine (Tokyo, Japan)|November 16, 2020
Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis CongenitaRyota Otoshi, Tomohisa Baba, Ryota Shintani, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|November 27, 2023
Abnormal axonal development and severe epileptic phenotype in Dynamin-1 (DNM1) encephalopathyKohei Matsubara, Ichiro Kuki, Risako Ishioka, et al.
Human Genome Variation|December 10, 2020
Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopiaYoshitaka Hiromoto, Yoshiteru Azuma, Yuichi Suzuki, et al.
Journal of Human Genetics|July 21, 2017
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelinationGaku Minase, Satoko Miyatake, Shin Nabatame, et al.
Pageof 19

Showing results (41-50 of 185) with videos related to

Sort By:
Pageof 19
Journal of Human Genetics|August 26, 2025
Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2Yukina Hayashi, Keisuke Hamada, Kavitha Rethanavelu, et al.
American Journal of Medical Genetics. Part A|May 19, 2009
Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing lossHirotomo Saitsu, Kenji Kurosawa, Hiroki Kawara, et al.
American Journal of Medical Genetics. Part A|May 2, 2008
Craniosynostosis in a patient with a de novo 15q15-q22 deletionYoko Hiraki, Miyuki Moriuchi, Nobuhiko Okamoto, et al.
Journal of Human Genetics|March 3, 2017
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndromeSatoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, et al.
Human Genome Variation|November 10, 2022
Distal 2q duplication in a patient with intellectual disabilityToshifumi Suzuki, Hitoshi Osaka, Noriko Miyake, et al.
Nature|February 16, 2017
Untimely expression of gametogenic genes in vegetative cells causes uniparental disomyH Diego Folco, Venkata R Chalamcharla, Tomoyasu Sugiyama, et al.
Internal Medicine (Tokyo, Japan)|November 16, 2020
Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis CongenitaRyota Otoshi, Tomohisa Baba, Ryota Shintani, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|November 27, 2023
Abnormal axonal development and severe epileptic phenotype in Dynamin-1 (DNM1) encephalopathyKohei Matsubara, Ichiro Kuki, Risako Ishioka, et al.
Human Genome Variation|December 10, 2020
Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopiaYoshitaka Hiromoto, Yoshiteru Azuma, Yuichi Suzuki, et al.
Journal of Human Genetics|July 21, 2017
An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelinationGaku Minase, Satoko Miyatake, Shin Nabatame, et al.
Pageof 19