Search the collection

16 results for Yoshihashi,+Hiroshi

Sort by:

Sort by

Limit results to:

20 per page

16 results for Yoshihashi,+Hiroshi

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Two cases of an infant with Down syndrome with solid food protein-induced enterocolitis syndrome
Author / Creator:Kajita, Naoki ; Futagawa, Hiroshi ; Yoshihashi, Hiroshi ; Yoshida, Koichi ; Narita, Masami
Publisher:Hoboken: John Wiley & Sons, Inc
Journal title:Pediatric investigation, 2022-01, Vol.64 (1)
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan
Author / Creator:Taguchi, Iku ; Yamada, Takahiro ; Akaishi, Rina ; Imoto, Issei ; Kurosawa, Kenji ; Nakatani, Kaname ; Nomura, Fumio ; Hamanoue, Haruka ; Hyodo, Maki ; Murakami, Hiromi ; Yoshihashi, Hiroshi ; Yotsumoto, Junko ; Kosugi, Shinji
Publisher:England: Nature Publishing Group
Journal title:Journal of human genetics, 2019-09, Vol.64 (9), p.945-954
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan
Author / Creator:Tsuchiya Mio ; Yamada Takahiro ; Akaishi Rina ; Hamanoue Haruka ; Hirasawa Akira ; Hyodo Maki ; Imoto Issei ; Kosho Tomoki ; Kurosawa Kenji ; Murakami Hiromi ; Nakatani Kaname ; Nomura Fumio ; Sasaki Aiko ; Shimizu Kenji ; Tamai Mariko ; Umemura, Hiroshi ; Watanabe, Atsushi ; Yoshida Akiko ; Yoshihashi Hiroshi ; Yotsumoto Junko ; Kosugi Shinji
Publisher:London: Nature Publishing Group
Journal title:Journal of human genetics, 2020-12, Vol.65 (12), p.1045-1053
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
IGF2 Mutations
Author / Creator:Masunaga, Yohei ; Inoue, Takanobu ; Yamoto, Kaori ; Fujisawa, Yasuko ; Sato, Yasuhiro ; Kawashima-Sonoyama, Yuki ; Morisada, Naoya ; Iijima, Kazumoto ; Ohata, Yasuhisa ; Namba, Noriyuki ; Suzumura, Hiroshi ; Kuribayashi, Ryota ; Yamaguchi, Yu ; Yoshihashi, Hiroshi ; Fukami, Maki ; Saitsu, Hirotomo ; Kagami, Masayo ; Ogata, Tsutomu
Publisher:US: Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2020-01, Vol.105 (1), p.116-125
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss
Author / Creator:Yasukawa, Rika ; Moteki, Hideaki ; Nishio, Shin-ya ; Ishikawa, Kotaro ; Abe, Satoko ; Honkura, Yohei ; Hyogo, Misako ; Mihashi, Ryota ; Ikezono, Tetsuo ; Shintani, Tomoko ; Ogasawara, Noriko ; Shirai, Kyoko ; Yoshihashi, Hiroshi ; Ishino, Takashi ; Otsuki, Koshi ; Ito, Tsukasa ; Sugahara, Kazuma ; Usami, Shin-ichi
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2019-09, Vol.10 (10), p.744
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Proportion of malformations and genetic disorders among cases encountered at a high-care unit in a children’s hospital
Author / Creator:Soneda, Akiko ; Teruya, Hideki ; Furuya, Noritaka ; Yoshihashi, Hiroshi ; Enomoto, Keisuke ; Ishikawa, Aki ; Matsui, Kiyoshi ; Kurosawa, Kenji
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:European journal of pediatrics, 2012-02, Vol.171 (2), p.301-305
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies
Author / Creator:Hayashi, Shin ; Imoto, Issei ; Aizu, Yoshinori ; Okamoto, Nobuhiko ; Mizuno, Seiji ; Kurosawa, Kenji ; Okamoto, Nana ; Honda, Shozo ; Araki, Satoshi ; Mizutani, Shuki ; Numabe, Hironao ; Saitoh, Shinji ; Kosho, Tomoki ; Fukushima, Yoshimitsu ; Mitsubuchi, Hiroshi ; Endo, Fumio ; Chinen, Yasutsugu ; Kosaki, Rika ; Okuyama, Torayuki ; Ohki, Hirotaka ; Yoshihashi, Hiroshi ; Ono, Masae ; Takada, Fumio ; Ono, Hiroaki ; Yagi, Mariko ; Matsumoto, Hiroshi ; Makita, Yoshio ; Hata, Akira ; Inazawa, Johji
Publisher:London: Nature Publishing Group UK
Journal title:Journal of human genetics, 2011-02, Vol.56 (2), p.110-124
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants
Author / Creator:Uehara, Tomoko ; Abe, Kota ; Oginuma, Masayuki ; Ishitani, Shizuka ; Yoshihashi, Hiroshi ; Okamoto, Nobuhiko ; Takenouchi, Toshiki ; Kosaki, Kenjiro ; Ishitani, Tohru
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2020-10, Vol.10 (1), p.17575, Article 17575
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
IGF2 Mutations Report of Five Cases, Review of the Literature, and Comparison with H79/fGF2: IG-DMR Epimutations
Author / Creator:Masunaga, Yohei ; Inoue, Takanobu ; Yamoto, Kaori ; Fujisawa, Yasuko ; Sato, Yasuhiro ; Kawashima-Sonoyama, Yuki ; Morisada, Naoya ; Iijima, Kazumoto ; Ohata, Yasuhisa ; Namba, Noriyuki ; Suzumura, Hiroshi ; Kuribayashi, Ryota ; Yamaguchi, Yu ; Yoshihashi, Hiroshi ; Fukami, Maki ; Saitsu, Hirotomo ; Kagami, Masayo ; Ogata, Tsutomu
Publisher:Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2020-01, Vol.105 (1), p.116
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
IGF2 Mutations: Report of Five Cases, Review of the Literature, and Comparison with H19/IGF2: IG-DMR Epimutations
Author / Creator:Masunaga, Yohei ; Inoue, Takanobu ; Yamoto, Kaori ; Fujisawa, Yasuko ; Sato, Yasuhiro ; Kawashima-Sonoyama, Yuki ; Morisada, Naoya ; Iijima, Kazumoto ; Ohata, Yasuhisa ; Namba, Noriyuki ; Suzumura, Hiroshi ; Kuribayashi, Ryota ; Yamaguchi, Yu ; Yoshihashi, Hiroshi ; Fukami, Maki ; Saitsu, Hirotomo ; Kagami, Masayo ; Ogata, Tsutomu
Publisher:Washington: Copyright Oxford University Press
Journal title:The journal of clinical endocrinology and metabolism, 2020-01, Vol.105 (1), p.116-125
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan
Author / Creator:Iwasa, Yoh-ichiro ; Nishio, Shin-ya ; Yoshimura, Hidekane ; Sugaya, Akiko ; Kataoka, Yuko ; Maeda, Yukihide ; Kanda, Yukihiko ; Nagai, Kyoko ; Naito, Yasushi ; Yamazaki, Hiroshi ; Ikezono, Tetsuo ; Matsuda, Han ; Nakai, Masako ; Tona, Risa ; Sakurai, Yuika ; Motegi, Remi ; Takeda, Hidehiko ; Kobayashi, Marina ; Kihara, Chiharu ; Ishino, Takashi ; Morita, Shin-ya ; Iwasaki, Satoshi ; Takahashi, Masahiro ; Furutate, Sakiko ; Oka, Shin-ichiro ; Kubota, Toshinori ; Arai, Yasuhiro ; Kobayashi, Yumiko ; Kikuchi, Daisuke ; Shintani, Tomoko ; Ogasawara, Noriko ; Honkura, Yohei ; Izumi, Shuji ; Hyogo, Misako ; Ninoyu, Yuzuru ; Suematsu, Mayumi ; Nakayama, Jun ; Tsuchihashi, Nana ; Okami, Mayuri ; Sakata, Hideaki ; Yoshihashi, Hiroshi ; Kobayashi, Taisuke ; Kumakawa, Kozo ; Yoshida, Tadao ; Esaki, Tomoko ; Usami, Shin-ichi
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2022-04, Vol.141 (3-4), p.865-875
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Correction to: Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan
Author / Creator:Iwasa, Yoh-ichiro ; Nishio, Shin-ya ; Yoshimura, Hidekane ; Sugaya, Akiko ; Kataoka, Yuko ; Maeda, Yukihide ; Kanda, Yukihiko ; Nagai, Kyoko ; Naito, Yasushi ; Yamazaki, Hiroshi ; Ikezono, Tetsuo ; Matsuda, Han ; Nakai, Masako ; Tona, Risa ; Sakurai, Yuika ; Motegi, Remi ; Takeda, Hidehiko ; Kobayashi, Marina ; Kihara, Chiharu ; Ishino, Takashi ; Morita, Shin-ya ; Iwasaki, Satoshi ; Takahashi, Masahiro ; Furutate, Sakiko ; Oka, Shin-ichiro ; Kubota, Toshinori ; Arai, Yasuhiro ; Kobayashi, Yumiko ; Kikuchi, Daisuke ; Shintani, Tomoko ; Ogasawara, Noriko ; Honkura, Yohei ; Izumi, Shuji ; Hyogo, Misako ; Ninoyu, Yuzuru ; Suematsu, Mayumi ; Nakayama, Jun ; Tsuchihashi, Nana ; Okami, Mayuri ; Sakata, Hideaki ; Yoshihashi, Hiroshi ; Kobayashi, Taisuke ; Kumakawa, Kozo ; Yoshida, Tadao ; Esaki, Tomoko ; Usami, Shin-ichi
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2022-04, Vol.141 (3-4), p.993-995
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
An association with hypopituitarism and 9q subtelomere deletion syndrome
Author / Creator:Higuchi, Shinji ; Takagi, Masaki ; Takeda, Ryojun ; Yoshihashi, Hiroshi ; Narumi, Satoshi ; Hasegawa, Tomonobu
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2018-12, Vol.6 (12), p.2371-2375
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex
Author / Creator:Nagata, Eiko ; Kano, Hiroki ; Kato, Fumiko ; Yamaguchi, Rie ; Nakashima, Shinichi ; Takayama, Shinichiro ; Kosaki, Rika ; Tonoki, Hidefumi ; Mizuno, Seiji ; Watanabe, Satoshi ; Yoshiura, Koh-ichiro ; Kosho, Tomoki ; Hasegawa, Tomonobu ; Kimizuka, Mamori ; Suzuki, Atsushi ; Shimizu, Kenji ; Ohashi, Hirofumi ; Haga, Nobuhiko ; Numabe, Hironao ; Horii, Emiko ; Nagai, Toshiro ; Yoshihashi, Hiroshi ; Nishimura, Gen ; Toda, Tatsushi ; Takada, Shuji ; Yokoyama, Shigetoshi ; Asahara, Hiroshi ; Sano, Shinichiro ; Fukami, Maki ; Ikegawa, Shiro ; Ogata, Tsutomu
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-10, Vol.9 (1), p.125-125, Article 125
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder
Author / Creator:Kosaki, K ; Suzuki, T ; Kosaki, R ; Yoshihashi, H ; Itoh, M ; Goto, Y ; Matsuo, N
Publisher:Basingstoke: Springer Science and Business Media LLC
Journal title:Molecular Psychiatry, 2001-01, Vol.6 (1), p.87-91
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B
Author / Creator:Watanabe, Kizuki ; Nishio, Shin-ya ; Usami, Shin-ichi
Publisher:London: Springer Science and Business Media LLC
Journal title:Scientific Reports, 2024-04, Vol.14 (1), p.8326-19, Article 8326
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Export record to excel

Export this record

Export record to excel

Two cases of an infant with Down syndrome with solid food protein-induced enterocolitis syndrome

Export this record

Export record to excel

Attitudes of clinical geneticists and certified genetic counselors to genome editing and its clinical applications: A nation-wide questionnaire survey in Japan

Export this record

Export record to excel

Attitudes toward and current status of disclosure of secondary findings from next-generation sequencing: a nation-wide survey of clinical genetics professionals in Japan

Export this record

Export record to excel

IGF2 Mutations

Export this record

Export record to excel

The Prevalence and Clinical Characteristics of TECTA-Associated Autosomal Dominant Hearing Loss

Export this record

Export record to excel

Proportion of malformations and genetic disorders among cases encountered at a high-care unit in a children’s hospital

Export this record

Export record to excel

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies

Export this record

Export record to excel

Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants

Export this record

Export record to excel

IGF2 Mutations Report of Five Cases, Review of the Literature, and Comparison with H79/fGF2: IG-DMR Epimutations

Export this record

Export record to excel

IGF2 Mutations: Report of Five Cases, Review of the Literature, and Comparison with H19/IGF2: IG-DMR Epimutations

Export this record

Export record to excel

Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan

Export this record

Export record to excel

Correction to: Detailed clinical features and genotype–phenotype correlation in an OTOF-related hearing loss cohort in Japan

Export this record

Export record to excel

An association with hypopituitarism and 9q subtelomere deletion syndrome

Export this record

Export record to excel

Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex

Export this record

Export record to excel

Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder

Export this record

Export record to excel

The prevalence and clinical features of MYO7A-related hearing loss including DFNA11, DFNB2 and USH1B

Refine your search