Kosaki, Tomoko: search on Z-Library

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1

Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation

Uehara, Tomoko, Ishige, Takashi, Hattori, Shigeto, Yoshihashi, Hiroshi, Funato, Michinori, Yamaguchi, Yu, Takenouchi, Toshiki, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 650 KB

english, 2018

2

Expanding Phenotype of Nephronophthisis-Related Ciliopathy: an Elderly Patient with Homozygous RPGRIP1L Mutation

Kawaguchi, Takahisa, Yoshida, Tadashi, Hirahashi, Junichi, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro, Itoh, Hiroshi, Hayashi, Matsuhiko

Journal:

Year:

2018

Language:

english

File:

PDF, 303 KB

english, 2018

3

Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion

Okamoto, Nana, Hayashi, Shin, Masui, Ayako, Kosaki, Rika, Oguri, Izumi, Hasegawa, Tomoko, Imoto, Issei, Makita, Yoshio, Hata, Akira, Moriyama, Keiji, Inazawa, Johji

Journal:

Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 353 KB

english, 2012

4

Consecutive medical exome analysis at a tertiary center: Diagnostic and healthâeconomic outcomes

Kosaki, Rika, Kubota, Masaya, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.04 MB

2020

5

Aerobic exercise training enhances cerebrovascular pulsatility response to acute aerobic exercise in older adults

Akazawa, Nobuhiko, Tanahashi, Koichiro, Kosaki, Keisei, Ra, Song-Gyu, Matsubara, Tomoko, Choi, Youngju, Zempo-Miyaki, Asako, Maeda, Seiji

Journal:

Physiological Reports

Year:

2018

Language:

english

File:

PDF, 132 KB

english, 2018

6

Growth pattern of Rahman syndrome

Takenouchi, Toshiki, Uehara, Tomoko, Kosaki, Kenjiro, Mizuno, Seiji

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 371 KB

english, 2018

7

Protein elongation variant of PUF60 : Milder phenotypic end of the Verheij syndrome

Yamada, Mamiko, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.36 MB

2020

8

Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association

Uehara, Tomoko, Hosogaya, Naoki, Matsuo, Nobutake, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 492 KB

english, 2018

9

The refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy and intellectual disability

Kuroda, Yukiko, Kimura, Yuichi, Uehara, Tomoko, Kosaki, Kenjiro, Kurosawa, Kenji

Journal:

Congenital Anomalies

Year:

2019

Language:

english

File:

PDF, 785 KB

english, 2019

10

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of AuâKline syndrome in a patient with submucous cleft palate, scaphocephaly, and intellectual disabilities

Yamada, Mamiko, Shiraishi, Yuichi, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, AbeâHatano, Chihiro, Kurosawa, Kenji, Kosaki, Kenjiro

Journal:

Molecular Genetics & Genomic Medicine

Year:

2020

File:

PDF, 506 KB

2020

11

Cover Image, Volume 173A, Number 5, May 2017

Takenouchi, Toshiki, Kuchikata, Tomu, Yoshihashi, Hiroshi, Fujiwara, Mineko, Uehara, Tomoko, Miyama, Sahoko, Yamada, Shiro, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2017

File:

PDF, 653 KB

2017

12

IFT172 as the 19th gene causative of oral‐facial‐digital syndrome

Yamada, Mamiko, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Fukushima, Hiroyuki, Morisada, Naoya, Tominaga, Kenta, Onoda, Motohiro, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 927 KB

2019

13

CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome

Uehara, Tomoko, Takenouchi, Toshiki, Yamaguchi, Yu, Daimon, Yumi, Suzuki, Hisato, Sakaguchi, Yuri, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 748 KB

2019

14

Hypercoagulopathy Associated With Uniparental Disomy of Chromosome 2

Takenouchi, Toshiki, Yamada, Takayuki, Kashiwagi, Yusuke, Yamaguchi, Yu, Uehara, Tomoko, Kosaki, Kenjiro

Journal:

Journal of Pediatric Hematology/Oncology

Year:

2020

File:

PDF, 138 KB

2020

15

Polymorphisms in the UGT1A1 gene predict adverse effects of irinotecan in the treatment of gynecologic cancer in Japanese patients

Hirasawa, Akira, Zama, Takeru, Akahane, Tomoko, Nomura, Hiroyuki, Kataoka, Fumio, Saito, Koichiro, Okubo, Keisuke, Tominaga, Eiichiro, Makita, Kazuya, Susumu, Nobuyuki, Kosaki, Kenjiro, Tanigawara, Yu

Journal:

Journal of Human Genetics

Year:

2013

File:

PDF, 62 KB

2013

16

Blended phenotype of AP4E1 deficiency and Angelman syndrome caused by paternal isodisomy of chromosome 15

Murakami, Hiroaki, Uehara, Tomoko, Tsurusaki, Yoshinori, Enomoto, Yumi, Kuroda, Yukiko, Aida, Noriko, Kosaki, Kenjiro, Kurosawa, Kenji

Journal:

Brain and Development

Year:

2020

File:

PDF, 588 KB

2020

17

Novel ARX mutation identified in infantile spasm syndrome patient

Takeshita, Yohei, Ohto, Tatsuyuki, Enokizono, Takashi, Tanaka, Mai, Suzuki, Hisato, Fukushima, Hiroko, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro, Takada, Hidetoshi

Journal:

Human Genome Variation

Year:

2020

File:

PDF, 499 KB

2020

18

Parallel detection of single nucleotide variants and copy number variants with exome analysis: Validation in a cohort of 700 undiagnosed patients

Suzuki, Hisato, Yamada, Mamiko, Uehara, Tomoko, Takenouchi, Toshiki, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 1.07 MB

2020

19

Establishing SON in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock-Carey syndrome phenotype

Takenouchi, Toshiki, Miura, Kiyokuni, Uehara, Tomoko, Mizuno, Seiji, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 251 KB

english, 2016

20

Diagnostic use of computational retrotransposon detection: Successful definition of pathogenetic mechanism in a ciliopathy phenotype

Takenouchi, Toshiki, Kuchikata, Tomu, Yoshihashi, Hiroshi, Fujiwara, Mineko, Uehara, Tomoko, Miyama, Sahoko, Yamada, Shiro, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 545 KB

english, 2017

21

Polymorphisms in the UGT1A1 gene predict adverse effects of irinotecan in the treatment of gynecologic cancer in Japanese patients

Hirasawa, Akira, Zama, Takeru, Akahane, Tomoko, Nomura, Hiroyuki, Kataoka, Fumio, Saito, Koichiro, Okubo, Keisuke, Tominaga, Eiichiro, Makita, Kazuya, Susumu, Nobuyuki, Kosaki, Kenjiro, Tanigawara, Yu

Journal:

Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 277 KB

english, 2013

22

Damage to Cauliflower Coral by Monofilament Fishing Lines in Hawaii

Kazue Asoh, Tomoko Yoshikawa, Randall Kosaki and Elizabeth A. Marschall

Journal:

Conservation Biology

Year:

2004

Language:

english

File:

PDF, 1.32 MB

english, 2004

23

Truncating mutation in CSNK2B and myoclonic epilepsy

Sakaguchi, Yuri, Uehara, Tomoko, Suzuki, Hisato, Kosaki, Kenjiro, Takenouchi, Toshiki

Journal:

Year:

2017

Language:

english

File:

PDF, 294 KB

english, 2017

24

CNOT2 as the critical gene for phenotypes of 12q15 microdeletion syndrome

Uehara, Tomoko, Takenouchi, Toshiki, Yamaguchi, Yu, Daimon, Yumi, Suzuki, Hisato, Sakaguchi, Yuri, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 748 KB

english, 2019

25

SATB2-associated syndrome in patients from Japan: Linguistic profiles

Yamada, Mamiko, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Yoshihashi, Hiroshi, Suzumura, Hiroshi, Mizuno, Seiji, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 855 KB

english, 2019

26

Co-occurrence of Sturge-Weber syndrome and Klippel-Trenaunay-Weber syndrome phenotype: Consideration of the historical aspect

Sakaguchi, Yuri, Takenouchi, Toshiki, Uehara, Tomoko, Kishi, Kazuo, Takahashi, Takao, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 272 KB

english, 2017

27

Metabolome analysis of the serotonin syndrome rat model: Abnormal muscular contraction is related to metabolic alterations and hyper-thermogenesis

Zaitsu, Kei, Noda, Saki, Iguchi, Akira, Hayashi, Yumi, Ohara, Tomomi, Kimura, Yuya, Koketsu, Yuta, Kosaki, Tomoko, Kusano, Maiko, Sato, Takako, Ishikawa, Tetsuya, Tsuchihashi, Hitoshi, Suzuki, Koichi,

Journal:

Year:

2018

Language:

english

File:

PDF, 2.49 MB

english, 2018

28

Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution

Takenouchi, Toshiki, Sakamoto, Yoshiaki, Sato, Hironori, Suzuki, Hisato, Uehara, Tomoko, Ohsone, Yoshiteru, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 788 KB

english, 2018

29

Cover Image, Volume 179A, Number 6, June 2019

Yamada, Mamiko, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Yoshihashi, Hiroshi, Suzumura, Hiroshi, Mizuno, Seiji, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 3.80 MB

2019

30

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

Yokoi, Takayuki, Enomoto, Yumi, Uehara, Tomoko, Kosaki, Kenjiro, Kurosawa, Kenji

Journal:

Human Genome Variation

Year:

2020

File:

PDF, 478 KB

2020

31

Heterozygous nonsense variant of CHD8 in a patient with formeâfruste Marfan syndrome and intellectual disability

Yamada, Mamiko, Yamaguchi, Yu, Uehara, Tomoko, Yagihashi, Tatsuhiko, Kosaki, Kenjiro

Journal:

Congenital Anomalies

Year:

2020

File:

PDF, 1.24 MB

2020

32

A paradoxical thrombogenic mutation in factor II at the target site of arthropod bleeding toxin

Takenouchi, Toshiki, Shimada, Hiroyuki, Uehara, Tomoko, Kanai, Yae, Takahashi, Takao, Kosaki, Kenjiro

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.68 MB

english, 2018

33

Haploinsufficiency of NCOR1 associated with autism spectrum disorder, scoliosis, and abnormal palatogenesis

Sakaguchi, Yuri, Uehara, Tomoko, Suzuki, Hisato, Sakamoto, Yoshiaki, Fujiwara, Mineko, Kosaki, Kenjiro, Takenouchi, Toshiki

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 817 KB

english, 2018

34

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

Uehara, Tomoko, Abe, Kota, Oginuma, Masayuki, Ishitani, Shizuka, Yoshihashi, Hiroshi, Okamoto, Nobuhiko, Takenouchi, Toshiki, Kosaki, Kenjiro, Ishitani, Tohru

Journal:

Scientific Reports

Year:

2020

File:

PDF, 1.18 MB

2020

35

Biallelic Mutations in the LSR Gene Cause a Novel Type of Infantile Intrahepatic Cholestasis

Uehara, Tomoko, Yamada, Mamiko, Umetsu, Shuichiro, Nittono, Hiroshi, Suzuki, Hisato, Fujisawa, Tomoo, Takenouchi, Toshiki, Inui, Ayano, Kosaki, Kenjiro

Journal:

The Journal of Pediatrics

Year:

2020

File:

PDF, 1.11 MB

2020

36

Mulvihill–Smith syndrome: A case report

Kaori Yago, Taneaki Nakagawa, Tomoko Hyodo, Kenjiro Kosaki, Yusuke Kawata, Youichi Tanaka, Soichiro Asanami

Journal:

Asian Journal of Oral and Maxillofacial Surgery

Year:

2011

Language:

english

File:

PDF, 873 KB

english, 2011

37

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

Saeki, Saki, Enokizono, Takashi, Imagawa, Kazuo, Fukushima, Hiroko, Kajikawa, Daigo, Sakai, Aiko, Tanaka, Mai, Ohto, Tatsuyuki, Suzuki, Hisato, Uehara, Tomoko, Takenouchi, Toshiki, Kenjiro, Kosaki, Ta

Journal:

Clinical Case Reports

Year:

2019

File:

PDF, 304 KB

2019

38

Role of chimeric transcript formation in the pathogenesis of birth defects

Yamada, Mamiko, Suzuki, Hisato, Watanabe, Akiko, Uehara, Tomoko, Takenouchi, Toshiki, Mizuno, Seiji, Kosaki, Kenjiro

Journal:

Congenital Anomalies

Year:

2020

File:

PDF, 2.14 MB

2020

39

Influence of CYP3A5 and ABCB1 gene polymorphisms on calcineurin inhibitor-related neurotoxicity after hematopoietic stem cell transplantation

Masakatsu Yanagimachi, Takuya Naruto, Reo Tanoshima, Hiromi Kato, Tomoko Yokosuka, Ryosuke Kajiwara, Hisaki Fujii, Fumiko Tanaka, Hiroaki Goto, Tatsuhiko Yagihashi, Kenjiro Kosaki, Shumpei Yokota

Journal:

Clinical Transplantation

Year:

2010

Language:

english

File:

PDF, 93 KB

english, 2010

40

Further evidence of a causal association between AGO1, a critical regulator of MicroRNA formation, and intellectual disability/autism spectrum disorder

Sakaguchi, Asami, Yamashita, Yukio, Ishii, Tomohiro, Uehara, Tomoko, Kosaki, Kenjiro, Takahashi, Takao, Takenouchi, Toshiki

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.14 MB

english, 2018

41

Noninvasive diagnosis of TRIT1 ‐related mitochondrial disorder by measuring i 6 A37 and ms 2 i 6 A37 modifications in tRNAs from blood and urine samples

Takenouchi, Toshiki, Wei, Fan‐Yan, Suzuki, Hisato, Uehara, Tomoko, Takahashi, Takao, Okazaki, Yasushi, Kosaki, Kenjiro, Tomizawa, Kazuhito

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 1.15 MB

english, 2019

42

IFT172 as the 19th gene causative of oral‐facial‐digital syndrome

Yamada, Mamiko, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Fukushima, Hiroyuki, Morisada, Naoya, Tominaga, Kenta, Onoda, Motohiro, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2019

Language:

english

File:

PDF, 927 KB

english, 2019

43

A case of autism spectrum disorder with cleft lip and palate carrying a mutation in exon 8 of AUTS2

Saeki, Saki, Enokizono, Takashi, Imagawa, Kazuo, Fukushima, Hiroko, Kajikawa, Daigo, Sakai, Aiko, Tanaka, Mai, Ohto, Tatsuyuki, Suzuki, Hisato, Uehara, Tomoko, Takenouchi, Toshiki, Kenjiro, Kosaki, Ta

Journal:

Clinical Case Reports

Year:

2019

Language:

english

File:

PDF, 304 KB

english, 2019

44

Hirschsprung disease as a yet undescribed phenotype in a patient with ARID1B mutation

Takenouchi, Toshiki, Yoshihashi, Hiroshi, Sakaguchi, Yuri, Uehara, Tomoko, Honda, Masataka, Takahashi, Takao, Kosaki, Kenjiro, Miyama, Sahoko

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 633 KB

english, 2016

45

De novo NSF mutations cause early infantile epileptic encephalopathy

Suzuki, Hisato, Yoshida, Takeshi, Morisada, Naoya, Uehara, Tomoko, Kosaki, Kenjiro, Sato, Katsunori, Matsubara, Kohei, Takano‐Shimizu, Toshiyuki, Takenouchi, Toshiki

Journal:

Annals of Clinical and Translational Neurology

Year:

2019

Language:

english

File:

PDF, 1.03 MB

english, 2019

46

Damage to Cauliflower Coral by Monofilament Fishing Lines in Hawaii

KAZUE ASOH, TOMOKO YOSHIKAWA, RANDALL KOSAKI, ELIZABETH A. MARSCHALL

Journal:

Conservation Biology

Year:

2004

Language:

english

File:

PDF, 166 KB

english, 2004

47

Cover Image, Volume 173A, Number 6, June 2017

Takenouchi, Toshiki, Miwa, Tomoru, Sakamoto, Yoshiaki, Sakaguchi, Yuri, Uehara, Tomoko, Takahashi, Takao, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2017

File:

PDF, 976 KB

2017

48

Cover Image, Volume 170A, Number 12, December 2016

Takenouchi, Toshiki, Yoshihashi, Hiroshi, Sakaguchi, Yuri, Uehara, Tomoko, Honda, Masataka, Takahashi, Takao, Kosaki, Kenjiro, Miyama, Sahoko

Journal:

American Journal of Medical Genetics Part A

Year:

2016

File:

PDF, 298 KB

2016

49

Noninvasive diagnosis of TRIT1 ‐related mitochondrial disorder by measuring i 6 A37 and ms 2 i 6 A37 modifications in tRNAs from blood and urine samples

Takenouchi, Toshiki, Wei, Fan‐Yan, Suzuki, Hisato, Uehara, Tomoko, Takahashi, Takao, Okazaki, Yasushi, Kosaki, Kenjiro, Tomizawa, Kazuhito

Journal:

American Journal of Medical Genetics Part A

Year:

2019

File:

PDF, 1.15 MB

2019

50

Further evidence of a mutation in CDC42 as a cause of a recognizable syndromic form of thrombocytopenia

Takenouchi, Toshiki, Okamoto, Nobuhiko, Ida, Shinobu, Uehara, Tomoko, Kosaki, Kenjiro

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 350 KB

english, 2016

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