نتائج البحث - "Sano, Shinichiro"

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

المصدر: Human Genome Variation ; volume 6, issue 1 ; ISSN 2054-345X

الاتاحة: http://dx.doi.org/10.1038/s41439-019-0039-9
https://www.nature.com/articles/s41439-019-0039-9.pdf
https://www.nature.com/articles/s41439-019-0039-9

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5

Academic Journal

(Epi)genetic and clinical characteristics in 84 patients with pseudohypoparathyroidism type 1B

المؤلفون: Urakawa, Tatsuki, Sano, Shinichiro, Kawashima, Sayaka, Nakamura, Akie, Shima, Hirohito, Ohta, Motoki, Yamada, Yuki, Nishida, Ai, Narusawa, Hiromune, Ohtsu, Yoshiaki, Matsubara, Keiko, Dateki, Sumito, Maruo, Yoshihiro, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo

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

المصدر: European Journal of Endocrinology ; volume 189, issue 6, page 590-600 ; ISSN 0804-4643 1479-683X

مصطلحات موضوعية: Endocrinology, General Medicine, Endocrinology, Diabetes and Metabolism

الاتاحة: http://dx.doi.org/10.1093/ejendo/lvad163
https://academic.oup.com/ejendo/advance-article-pdf/doi/10.1093/ejendo/lvad163/53970770/lvad163.pdf
https://academic.oup.com/ejendo/article-pdf/189/6/590/54653425/lvad163.pdf

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6

Academic Journal

Serum steroid metabolite profiling by LC-MS/MS in two phenotypic male patients with HSD17B3 deficiency: Implications for hormonal diagnosis

المؤلفون: Fujisawa, Yasuko, Masunaga, Yohei, Tanikawa, Wataru, Nakashima, Shinichi, Ueda, Daisuke, Sano, Shinichiro, Fukami, Maki, Saitsu, Hirotomo, Yazawa, Takashi, Ogata, Tsutomu

المصدر: The Journal of Steroid Biochemistry and Molecular Biology ; volume 234, page 106403 ; ISSN 0960-0760

الاتاحة: http://dx.doi.org/10.1016/j.jsbmb.2023.106403
https://api.elsevier.com/content/article/PII:S0960076023001589?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0960076023001589?httpAccept=text/plain

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7

Additional file 5 of Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes

المؤلفون: Hara-Isono, Kaori, Matsubara, Keiko, Nakamura, Akie, Sano, Shinichiro, Inoue, Takanobu, Kawashima, Sayaka, Fuke, Tomoko, Yamazawa, Kazuki, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a00317b3271ea845629df9156c1d803

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8

Additional file 2 of Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes

المؤلفون: Hara-Isono, Kaori, Matsubara, Keiko, Nakamura, Akie, Sano, Shinichiro, Inoue, Takanobu, Kawashima, Sayaka, Fuke, Tomoko, Yamazawa, Kazuki, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21580e7016b34926ac7cbe3718fb5f81

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9

Additional file 3 of Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes

المؤلفون: Hara-Isono, Kaori, Matsubara, Keiko, Nakamura, Akie, Sano, Shinichiro, Inoue, Takanobu, Kawashima, Sayaka, Fuke, Tomoko, Yamazawa, Kazuki, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1fef189000f4a36632cb3002eab547df

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10

Additional file 4 of Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes

المؤلفون: Hara-Isono, Kaori, Matsubara, Keiko, Nakamura, Akie, Sano, Shinichiro, Inoue, Takanobu, Kawashima, Sayaka, Fuke, Tomoko, Yamazawa, Kazuki, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13bdf8d51061afa6541490d74a6ac99d

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11

鼠径ヘルニア手術を契機に判明した46,XY性分化疾患の2例 ; Two cases of 46,XY differences/disorders of sex development in patients with inguinal hernia

المؤلفون: 高田, 香織, TAKADA, Kaori, 村松, 真由美, MURAMATSU, Mayumi, 三宅, 啓, MIYAKE, Hiromu, 塩澤, 亮輔, SHIOZAWA, Ryosuke, 佐野, 伸一朗, SANO, Shinichiro

مصطلحات موضوعية: 性分化疾患, 鼠径ヘルニア, 性腺, テストステロン

وصف الملف: application/pdf

Relation: 浜松医科大学小児科学雑誌; 31; 35; Hamamatsu Journal of Pediatrics; https://hama-med.repo.nii.ac.jp/record/4158/files/hjop_3_1_31.pdf

الاتاحة: https://hama-med.repo.nii.ac.jp/record/4158/files/hjop_3_1_31.pdf

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12

Academic Journal

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

المؤلفون: Inoue, Takanobu, Nakamura, Akie, Fuke, Tomoko, Yamazawa, Kazuki, Sano, Shinichiro, Matsubara, Keiko, Mizuno, Seiji, Matsukura, Yoshika, Harashima, Chie, Hasegawa, Tatsuji, Nakajima, Hisakazu, Tsumura, Kumi, Kizaki, Zenro, Oka, Akira, 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, Japanese Society for Pediatric Endocrinology Future Development Grant

المصدر: Clinical Epigenetics ; volume 9, issue 1 ; ISSN 1868-7075 1868-7083

الاتاحة: http://dx.doi.org/10.1186/s13148-017-0350-6
http://link.springer.com/content/pdf/10.1186/s13148-017-0350-6.pdf
http://link.springer.com/article/10.1186/s13148-017-0350-6/fulltext.html

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13

Academic Journal

Genome-wide multilocus imprinting disturbance analysis in Temple syndrome and Kagami-Ogata syndrome

المؤلفون: Kagami, Masayo, Matsubara, Keiko, Nakabayashi, Kazuhiko, Nakamura, Akie, Sano, Shinichiro, Okamura, Kohji, Hata, Kenichiro, Fukami, Maki, Ogata, Tsutomu

المصدر: Genetics in Medicine ; volume 19, issue 4, page 476-482 ; ISSN 1098-3600

الاتاحة: http://dx.doi.org/10.1038/gim.2016.123
http://www.nature.com/articles/gim2016123.pdf
http://www.nature.com/articles/gim2016123
https://api.elsevier.com/content/article/PII:S1098360021024308?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1098360021024308?httpAccept=text/plain

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14

Audio

Pseudohypoparathyroidism type 1a with hypomethylation at the responsible differentially methylated region for Beckwith-Wiedemann syndrome

المؤلفون: Ohtsu, Yoshiaki, Kurata, Kanako, Takahashi, Mai, Kowase, Takanori, Arakawa, Hirokazu, Sano, Shinichiro, Kagami, Masayo

Relation: http://www.ijpeonline.com/content/2015/S1/O51

الاتاحة: http://www.ijpeonline.com/content/2015/S1/O51

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15

Academic Journal

英語コーパスを用いた語彙使用の変遷に関する実証的研究 ; エイゴコーパスオモチイタゴイシヨウノヘンセンニカンスルジッショウテキケンキュウ ; Eigo kōpasu o mochiita goi shiyō no hensen ni kansuru jisshōteki kenkyū ; A corpus-based study of the changes in the usage of lexical items in English

المؤلفون: サノ, シンイチロウ, Sano, Shinichiro, 佐野, 真一郎

الاتاحة: https://koara.lib.keio.ac.jp/xoonips/modules/xoonips/download.php?koara_id=AN00069467-00000053-0059
https://koara.lib.keio.ac.jp/xoonips/modules/xoonips/detail.php?koara_id=AN00069467-00000053-0059

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16

Academic Journal

Frequency and clinical characteristics of distinct etiologies in patients with Silver-Russell syndrome diagnosed based on the Netchine-Harbison clinical scoring system

المؤلفون: Fuke, Tomoko, Nakamura, Akie, Inoue, Takanobu, Kawashima, Sayaka, Hara-Isono, Kaori, Matsubara, Keiko, Sano, Shinichiro, Yamazawa, Kazuki, Fukami, Maki, Ogata, Tsutomu, Kagami, Masayo

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

المصدر: Journal of Human Genetics ; volume 67, issue 10, page 607-611 ; ISSN 1434-5161 1435-232X

الاتاحة: http://dx.doi.org/10.1038/s10038-022-01048-7
https://www.nature.com/articles/s10038-022-01048-7.pdf
https://www.nature.com/articles/s10038-022-01048-7

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