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Mitsuhiro Kato

Showing results (91-100 of 238) with videos related to

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No to Hattatsu = Brain and Development|January 29, 2005
[Molecular screening for moyamoya disease by use of expressed sequence tag on chromosome 3p]Toshiyuki Yamamoto, Yuko Akasaka, Kyoichi Ohtani, et al.
Investigative Ophthalmology & Visual Science|August 23, 2016
Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod DystrophyAkiko Suga, Atsushi Mizota, Mitsuhiro Kato, et al.
Clinical Genetics|December 6, 2021
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic faceNoriko Miyake, Sebastián Silva, Mónica Troncoso, et al.
Frontiers in Genetics|August 24, 2023
Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndromeYuri Yoh, Tadashi Shiohama, Tomoko Uchida, 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.
European Journal of Human Genetics : EJHG|September 22, 2016
Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathyMakiko Tsutsumi, Setsuri Yokoi, Fuyuki Miya, et al.
Journal of Human Genetics|June 23, 2017
Siblings with optic neuropathy and RTN4IP1 mutationNobuhiko Okamoto, Fuyuki Miya, Yoshikazu Hatsukawa, et al.
American Journal of Human Genetics|January 3, 2012
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephalyYuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai, et al.
American Journal of Medical Genetics. Part A|April 4, 2008
Two new cases of pure 1q terminal deletion presenting with brain malformationsYoko Hiraki, Nobuhiko Okamoto, Tomoko Ida, et al.
Epilepsia Open|February 5, 2023
Synchronous heart rate reduction with suppression-burst pattern in KCNT1-related developmental and epileptic encephalopathiesKaoru Yamamoto, Shimpei Baba, Takashi Saito, et al.
Pageof 24

Showing results (91-100 of 238) with videos related to

Sort By:
Pageof 24
No to Hattatsu = Brain and Development|January 29, 2005
[Molecular screening for moyamoya disease by use of expressed sequence tag on chromosome 3p]Toshiyuki Yamamoto, Yuko Akasaka, Kyoichi Ohtani, et al.
Investigative Ophthalmology & Visual Science|August 23, 2016
Identification of Novel Mutations in the LRR-Cap Domain of C21orf2 in Japanese Patients With Retinitis Pigmentosa and Cone-Rod DystrophyAkiko Suga, Atsushi Mizota, Mitsuhiro Kato, et al.
Clinical Genetics|December 6, 2021
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic faceNoriko Miyake, Sebastián Silva, Mónica Troncoso, et al.
Frontiers in Genetics|August 24, 2023
Case report: Progressive pulmonary artery hypertension in a case of megalencephaly-capillary malformation syndromeYuri Yoh, Tadashi Shiohama, Tomoko Uchida, 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.
European Journal of Human Genetics : EJHG|September 22, 2016
Novel compound heterozygous variants in PLK4 identified in a patient with autosomal recessive microcephaly and chorioretinopathyMakiko Tsutsumi, Setsuri Yokoi, Fuyuki Miya, et al.
Journal of Human Genetics|June 23, 2017
Siblings with optic neuropathy and RTN4IP1 mutationNobuhiko Okamoto, Fuyuki Miya, Yoshikazu Hatsukawa, et al.
American Journal of Human Genetics|January 3, 2012
De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephalyYuriko Yoneda, Kazuhiro Haginoya, Hiroshi Arai, et al.
American Journal of Medical Genetics. Part A|April 4, 2008
Two new cases of pure 1q terminal deletion presenting with brain malformationsYoko Hiraki, Nobuhiko Okamoto, Tomoko Ida, et al.
Epilepsia Open|February 5, 2023
Synchronous heart rate reduction with suppression-burst pattern in KCNT1-related developmental and epileptic encephalopathiesKaoru Yamamoto, Shimpei Baba, Takashi Saito, et al.
Pageof 24