نتائج البحث - "Yamazawa, Kazuki"

المساهمون: MEXT | Japan Society for the Promotion of Science, Japan Agency for Medical Research and Development, National Cancer Center Research and Development Fund

المصدر: Human Genome Variation ; volume 9, issue 1 ; ISSN 2054-345X

الاتاحة: http://dx.doi.org/10.1038/s41439-021-00180-8
https://www.nature.com/articles/s41439-021-00180-8.pdf
https://www.nature.com/articles/s41439-021-00180-8

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6

Academic Journal

Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population

المؤلفون: Murakami, Haruka, Tanimoto, Yoko, Tanimoto, Kojiro, Inoue, Satomi, Ishikawa, Taisuke, Makita, Naomasa, Yamazawa, Kazuki

المساهمون: MEXT | Japan Society for the Promotion of Science

المصدر: Human Genome Variation ; volume 9, issue 1 ; ISSN 2054-345X

الاتاحة: http://dx.doi.org/10.1038/s41439-022-00206-9
https://www.nature.com/articles/s41439-022-00206-9.pdf
https://www.nature.com/articles/s41439-022-00206-9

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7

Academic Journal

C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations

المؤلفون: Nakashima, Moeko, Shiroshima, Tomoko, Fukaya, Masahiro, Sugawara, Takeyuki, Sakagami, Hiroyuki, Yamazawa, Kazuki

المساهمون: MEXT | Japan Society for the Promotion of Science

المصدر: Journal of Human Genetics ; volume 69, issue 3-4, page 119-123 ; ISSN 1434-5161 1435-232X

الاتاحة: http://dx.doi.org/10.1038/s10038-023-01210-9
https://www.nature.com/articles/s10038-023-01210-9.pdf
https://www.nature.com/articles/s10038-023-01210-9

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8

Academic Journal

Dynamics of transcription-mediated conversion from euchromatin to facultative heterochromatin at the Xist promoter by Tsix

المؤلفون: Ohhata, Tatsuya, Yamazawa, Kazuki, Miura-Kamio, Asuka, Takahashi, Saori, Sakai, Satoshi, Tamura, Yuka, Uchida, Chiharu, Kitagawa, Kyoko, Niida, Hiroyuki, Hiratani, Ichiro, Kobayashi, Hisato, Kimura, Hiroshi, Wutz, Anton, Kitagawa, Masatoshi

المصدر: Cell Reports, 34 (13)

وصف الملف: application/application/pdf

Relation: info:eu-repo/semantics/altIdentifier/wos/000636315200009; http://hdl.handle.net/20.500.11850/477418

الاتاحة: https://hdl.handle.net/20.500.11850/477418
https://doi.org/10.3929/ethz-b-000477418

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9

Academic Journal

A Japanese boy with double diagnoses of 2p15p16.1 microdeletion syndrome and RP2-associated retinal disorder

المؤلفون: Yamazawa, Kazuki, Shimizu, Kenji, Ohashi, Hirofumi, Haruna, Hidenori, Inoue, Satomi, Murakami, Haruka, Matsunaga, Tatsuo, Iwata, Takeshi, Tsunoda, Kazushige, Fujinami, Kaoru

المساهمون: JSPS KAKENHI, National Hospital Organization Network Research Fund

المصدر: Human Genome Variation ; volume 8, issue 1 ; ISSN 2054-345X

الاتاحة: http://dx.doi.org/10.1038/s41439-021-00178-2
https://www.nature.com/articles/s41439-021-00178-2.pdf
https://www.nature.com/articles/s41439-021-00178-2

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10

Academic Journal

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

المؤلفون: Patel, Mayher J., DiStefano, Marina T., Oza, Andrea M., Hughes, Madeline Y., Wilcox, Emma H., Hemphill, Sarah E., Cushman, Brandon J., Grant, Andrew R., Siegert, Rebecca K., Shen, Jun, Chapin, Alex, Boczek, Nicole J., Schimmenti, Lisa A., Nara, Kiyomitsu, Kenna, Margaret, Azaiez, Hela, Booth, Kevin T., Avraham, Karen B., Kremer, Hannie, Griffith, Andrew J., Rehm, Heidi L., Amr, Sami S., Tayoun, Ahmad N. Abou, Abdelhak, Sonia, Alexander, John, Brownstein, Zippora, Burt, Rachel, Choi, Byung Yoon, Downie, Lilian, Friedman, Thomas, Giersch, Anne, Greinwald, John, Holt, Jeffrey, Hosoya, Makoto, Kim, Un-Kyung, Krantz, Ian, Leal, Suzanne, Masmoudi, Saber, Matsunaga, Tatsuo, Morín, Matías, Morton, Cynthia, Mutai, Hideki, Pandya, Arti, Smith, Richard, Tekin, Mustafa, Usami, Shin-Ichi, Van Camp, Guy, Yamazawa, Kazuki, Yuan, Hui-Jun, Black-Zeigelbein, Elizabeth

المصدر: Genetics in Medicine ; volume 23, issue 11, page 2208-2212 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/s41436-021-01254-2
https://www.nature.com/articles/s41436-021-01254-2.pdf
https://www.nature.com/articles/s41436-021-01254-2
https://api.elsevier.com/content/article/PII:S1098360021051789?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021051789?httpAccept=text/plain

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11

Academic Journal

Compound heterozygous variants in the ABCG8 gene in a Japanese girl with sitosterolemia

المؤلفون: Hashimoto, Nobuhiro, Dateki, Sumito, Suzuki, Eri, Tsuchihashi, Takatoshi, Isobe, Aiko, Banno, Sari, Kageyama, Tomoka, Maeda, Naonori, Hatabu, Naomi, Sato, Rieko, Miharu, Masashi, Fujita, Hisayo, Komiyama, Osamu, Shimizu, Hitomi, Hasegawa, Tomonobu, Yamazawa, Kazuki

المصدر: Human Genome Variation ; volume 7, issue 1 ; ISSN 2054-345X

الاتاحة: http://dx.doi.org/10.1038/s41439-020-00112-y
https://www.nature.com/articles/s41439-020-00112-y.pdf
https://www.nature.com/articles/s41439-020-00112-y

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12

Academic Journal

Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients

المساهمون: National Center for Child Health and Development, Japan Agency for Medical Research and Development, Foundation for Growth Science, Takeda Science Foundation

المصدر: Clinical Epigenetics ; volume 12, issue 1 ; ISSN 1868-7075 1868-7083

الاتاحة: http://dx.doi.org/10.1186/s13148-020-00865-x
https://link.springer.com/content/pdf/10.1186/s13148-020-00865-x.pdf
https://link.springer.com/article/10.1186/s13148-020-00865-x/fulltext.html

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13

Academic Journal

Genome-wide methylation analysis in Silver–Russell syndrome, Temple syndrome, and Prader–Willi syndrome

المؤلفون: Hara-Isono, Kaori, Matsubara, Keiko, Fuke, Tomoko, Yamazawa, Kazuki, Satou, Kazuhito, Murakami, Nobuyuki, Saitoh, Shinji, Nakabayashi, Kazuhiko, Hata, Kenichiro, Ogata, Tsutomu, Fukami, Maki, Kagami, Masayo

المساهمون: Japan Society for the Promotion of Science, National Center for Child Health and Development, Japan Agency for Medical Research and Development, Takeda Science Foundation

المصدر: Clinical Epigenetics ; volume 12, issue 1 ; ISSN 1868-7075 1868-7083

الاتاحة: http://dx.doi.org/10.1186/s13148-020-00949-8
https://link.springer.com/content/pdf/10.1186/s13148-020-00949-8.pdf
https://link.springer.com/article/10.1186/s13148-020-00949-8/fulltext.html

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