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1

Wiimote Experiments: Circular Motion

Kouh, Minjoon, Holz, Danielle, Kawam, Alae, Lamont, Mary

Journal:

The Physcis Teacher

Year:

2013

Language:

english

File:

PDF, 1.45 MB

english, 2013

2

Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals

Yamaguchi-Kabata, Yumi, Yasuda, Jun, Tanabe, Osamu, Suzuki, Yoichi, Kawame, Hiroshi, Fuse, Nobuo, Nagasaki, Masao, Kawai, Yosuke, Kojima, Kaname, Katsuoka, Fumiki, Saito, Sakae, Danjoh, Inaho, Motoike

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 733 KB

english, 2017

3

Understanding the Bioinformatics Challenges of Integrating Genomics into Healthcare

Al Kawam, Ahmad, Sen, Arun, Datta, Aniruddha, Dickey, Nancy

Journal:

IEEE Journal of Biomedical and Health Informatics

Year:

2017

Language:

english

File:

PDF, 570 KB

english, 2017

4

Kabuki syndrome: international consensus diagnostic criteria

Adam, Margaret P, Banka, Siddharth, Bjornsson, Hans T, Bodamer, Olaf, Chudley, Albert E, Harris, Jaqueline, Kawame, Hiroshi, Lanpher, Brendan C, Lindsley, Andrew W, Merla, Giuseppe, Miyake, Noriko, Ok

Journal:

Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 1.17 MB

english, 2018

5

Wiimote Experiments: 3-D Inclined Plane Problem for Reinforcing the Vector Concept

Kawam, Alae, Kouh, Minjoon

Journal:

The Physcis Teacher

Year:

2011

Language:

english

File:

PDF, 1.00 MB

english, 2011

6

Polymicrogyria is an uncommon manifestation in 22q11.2 deletion syndrome

Hiroshi Kawame, Kenji Kurosawa, Akira Akatsuka, Yukikatsu Ochiai, Katsumi Mizuno

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 83 KB

english, 2000

7

Dorsaler Knochenblock und Kapselplastik zur Behandlung der hinteren Instabilität der Schulter bei Jugendlichen

R. Merv Letts, Michael Kawam, Darin Davidson

Journal:

Operative Orthopädie und Traumatologie

Year:

2000

File:

PDF, 1.03 MB

2000

8

Ozonolysis of surface-adsorbed methoxyphenols: kinetics of aromatic ring cleavage vs. alkene side-chain oxidation

O'Neill, E. M., Kawam, A. Z., Van Ry, D. A., Hinrichs, R. Z.

Journal:

Atmospheric Chemistry and Physics

Year:

2014

Language:

english

File:

PDF, 1.05 MB

english, 2014

9

Decadal Vision in Oceanography (I); 海洋学の10年展望（Ⅰ）;

Oka, Eitarou, Isobe, Atsuhiko, Ichikawa, Kaoru, Masumoto, Yukio, Suga, Toshio, Kawai, Yoshimi, Ohshima, Kay I., Shimada, Koji, Hasumi, Hiroyasu, Minobe, Shoshiro, Waseda, Takuji, Iwasaka, Naoto, Kawam

Journal:

Oceanography in Japan

Year:

2013

File:

PDF, 3.47 MB

2013

10

Digital anomalies, microcephaly, and normal intelligence: New syndrome or Feingold syndrome?

Kawame, Hiroshi, Pagon, Roberta A., Hudgins, Louanne

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 486 KB

english, 1997

11

Functional disomy for Xq26.3-qter in a boy with an unbalanced t(X;21)(q26.3;p11.2) translocation

Masaharu Akiyama, Hiroshi Kawame, Hirofumi Ohashi, Takaya Tohma, Hidemi Ohta, Akihiro Shishikura, Ichiro Miyata, Nobuo Usui, Yoshikatsu Eto

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 311 KB

english, 2001

12

Patellar dislocation in Kabuki syndrome

Kenji Kurosawa, Hiroshi Kawame, Yukikatsu Ochiai, Masanosuke Nakashima, Takaya Tohma, Hirofumi Ohashi

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 83 KB

english, 2002

13

Further delineation of the behavioral and neurologic features in Costello syndrome

Hiroshi Kawame, Mihoko Matsui, Kenji Kurosawa, Mari Matsuo, Mitsuo Masuno, Hirofumi Ohashi, Noboru Fueki, Kouki Aoyama, Yukiko Miyatsuka, Kaoru Suzuki, Akira Akatsuka, Yukikatsu Ochiai, Yoshimitsu Fuk

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 150 KB

english, 2003

14

Elevated catecholamine metabolites in patients with Costello syndrome

Karen W. Gripp, Hiroshi Kawame, David H. Viskochil, Linda Nicholson

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 55 KB

english, 2004

15

BAC array CGH reveals genomic aberrations in idiopathic mental retardation

Noriko Miyake, Osamu Shimokawa, Naoki Harada, Nadia Sosonkina, Aiko Okubo, Hiroki Kawara, Nobuhiko Okamoto, Kenji Kurosawa, Hiroshi Kawame, Mie Iwakoshi, Tomoki Kosho, Yoshimitsu Fukushima, Yoshio Mak

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 315 KB

english, 2006

16

Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment

Tomoki Kosho, Tomohiko Nakamura, Hiroshi Kawame, Atsushi Baba, Masanori Tamura, Yoshimitsu Fukushima

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 100 KB

english, 2006

17

Magnetic Properties of All-Organic Liquid Crystals Containing a Chiral Five-Membered Cyclic Nitroxide Unit within the Rigid Core

Naohiko Ikuma, Rui Tamura, Satoshi Shimono, Naoyuki Kawame, Osamu Tamada, Naoko Sakai, Jun Yamauchi, Yukio Yamamoto

Journal:

Angewandte Chemie

Year:

2004

Language:

english

File:

PDF, 193 KB

english, 2004

18

Magnetic Properties of All-Organic Liquid Crystals Containing a Chiral Five-Membered Cyclic Nitroxide Unit within the Rigid Core

Naohiko Ikuma, Rui Tamura, Satoshi Shimono, Naoyuki Kawame, Osamu Tamada, Naoko Sakai, Jun Yamauchi, Yukio Yamamoto

Journal:

Angewandte Chemie International Edition

Year:

2004

Language:

english

File:

PDF, 193 KB

english, 2004

19

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Naohiro Kurotaki, Naoki Harada, Osamu Shimokawa, Noriko Miyake, Hiroshi Kawame, Kimiaki Uetake, Yoshio Makita, Tatsuro Kondoh, Tsutomu Ogata, Tomoko Hasegawa, Toshiro Nagai, Takao Ozaki, Mayumi Touyam

Journal:

Year:

2003

Language:

english

File:

PDF, 363 KB

english, 2003

20

Molecular screening of Japanese patients with gaucher disease: Phenotypic variability in the same genotypes

Hiroshi Kawame, Kihei Maekawa, Yoshikatsu Eto

Journal:

Year:

1993

Language:

english

File:

PDF, 557 KB

english, 1993

21

Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation

Tomoko Kobayashi, Yoko Aoki, Tetsuya Niihori, Hélène Cavé, Alain Verloes, Nobuhiko Okamoto, Hiroshi Kawame, Ikuma Fujiwara, Fumio Takada, Takako Ohata, Satoru Sakazume, Tatsuya Ando, Noriko Nakagawa,

Journal:

Year:

2010

Language:

english

File:

PDF, 414 KB

english, 2010

22

Synthesis and absorption spectra of large homogeneous single crystals of forsterite doped with manganese

H. Kanazawa, K. Ito, H. Sato, M. Kumatoriya, K. Miyazaki, S. Uehara, H. Tsuda, K. Kuzawa, N. Kawame, T. Kitazawa, O. Tamada, M.B. Boisen Jr., H. Takei

Journal:

Journal of Crystal Growth

Year:

2007

Language:

english

File:

PDF, 469 KB

english, 2007

23

Deuteration effects on specific heat of an alternating chain system:

Y. Yoshida, O. Wada, Y. Nakaie, T. Kawae, N. Sakai, N. Kawame, Y. Fujii, Y. Hosokoshi, B. Grenier, J-P. Boucher

Journal:

Journal of Magnetism and Magnetic Materials

Year:

2007

Language:

english

File:

PDF, 139 KB

english, 2007

24

Gonadal sex cord stromal tumor in a patient with Rubinstein−Taybi syndrome

Kenji Kurosawa, Keiko Fukutani, Mitsuo Masuno, Hiroshi Kawame, Yukikatsu Ochiai

Journal:

Pediatrics International

Year:

2002

Language:

english

File:

PDF, 1.91 MB

english, 2002

25

Nonimmunologic hydropic fetalis associated with polypoid embolizations of both umbilical arteries

Sorahiro Sunagawa, Akihiko Kikuchi, Kyoko Ono, Mariko Kita, Tsuguhiro Horikoshi, Kimiyo Takagi, Hiroshi Kawame, Yoshifumi Ogiso

Journal:

Prenatal Diagnosis

Year:

2008

Language:

english

File:

PDF, 58 KB

english, 2008

26

Single exon mutation in arylsulfatase A gene has two effects: loss of enzyme activity and aberrant splicing

Yoriyasu Hasegawa, Hiroshi Kawame, Hiroyuki Ida, Toya Ohashi, Yoshikatsu Eto

Journal:

Year:

1994

Language:

english

File:

PDF, 955 KB

english, 1994

27

Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations

Hiroyuki Ida, Kyoko Iwasawa, Hiroshi Kawame, Owen M. Rennert, Kihei Maekawa, Yoshikatsu Eto

Journal:

Year:

1995

Language:

english

File:

PDF, 357 KB

english, 1995

28

Rapid identification of mutations in the glucocerebrosidase gene of Gaucher disease patients by analysis of single-strand conformation polymorphisms

Hiroshi Kawame, Yoriyasu Hasegawa, Yoshikatsu Eto, Kihei Maekawa

Journal:

Year:

1992

Language:

english

File:

PDF, 440 KB

english, 1992

29

Molecular characteristics in Japanese patients with lipidosis: Novel mutations in metachromatic leukodystrophy and Gaucher disease

Yoshikatsu Eto, Hiroshi Kawame, Yoriyasu Hasegawa, Toya Ohashi, Hiroyuki Ida, Toshiharu Tokoro

Journal:

Molecular and Cellular Biochemistry

Year:

1993

Language:

english

File:

PDF, 452 KB

english, 1993

30

Abnormality in cultured oligodendrocytes and Schwann cells isolated from the twitcher mouse

Hiroyuki Ida, Fusayo Kawame, Seung U. Kim, Yoshikatsu Eto

Journal:

Molecular and Chemical Neuropathology (Neurochemical Pathology)

Year:

1990

Language:

english

File:

PDF, 670 KB

english, 1990

31

The posterior bone block and capsular shift in the management of posterior dislocation of the shoulder in adolescents

R. Merv Letts, Michael Kawam, Darin Davidson

Journal:

Orthopedics and Traumatology

Year:

2000

Language:

english

File:

PDF, 1.17 MB

english, 2000

32

Osteogenesis imperfecta-like syndrome with severe mental retardation and extrapyramidal tract signs

G. Nishimura, Kenzi Kurosawa, Hiroshi Kobayashi, Hiroshi Kawame

Journal:

Pediatric Radiology

Year:

1998

Language:

english

File:

PDF, 153 KB

english, 1998

33

A mild variant of Desbuquois dysplasia

G. Nishimura, H. S. Hong, H. Kawame, S. Sato, G. Cai, K. Ozono

Journal:

European Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 217 KB

english, 1999

34

Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

H. Ida, Owen M. Rennert, Takeru Ito, Kihei Maekawa, Yoshikatsu Eto, H. Kawame

Journal:

Year:

1996

Language:

english

File:

PDF, 30 KB

english, 1996

35

Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia

Tetsuya Niihori, Yoko Aoki, Hirofumi Ohashi, Kenji Kurosawa, Tatsuro Kondoh, Satoshi Ishikiriyama, Hiroshi Kawame, Hotaka Kamasaki, Tsutomu Yamanaka, Fumio Takada, Kimio Nishio, Masahiro Sakurai, Hiro

Journal:

Journal of Human Genetics

Year:

2005

Language:

english

File:

PDF, 400 KB

english, 2005

36

Clinical manifestations in patients withSOS1mutations range from Noonan syndrome to CFC syndrome

Yoko Narumi, Yoko Aoki, Tetsuya Niihori, Masahiro Sakurai, Hélène Cavé, Alain Verloes, Kimio Nishio, Hirofumi Ohashi, Kenji Kurosawa, Nobuhiko Okamoto, Hiroshi Kawame, Seiji Mizuno, Tatsuro Kondoh, Ma

Journal:

Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 398 KB

english, 2008

37

Syndrome of microcephaly, Dandy-Walker malformation, and Wilms tumor caused by mosaic variegated aneuploidy with premature centromere division (PCD): report of a new case and review of the literature

H. Kawame, Yoko Sugio, Yuichi Fuyama, Yoshihiro Hayashi, Hideaki Suzuki, Kenji Kurosawa, Kihei Maekawa

Journal:

Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 202 KB

english, 1999

38

First synthesis of olivine single crystal as large as 250 carats

K. Ito, H. Sato, H. Kanazawa, N. Kawame, O. Tamada, K. Miyazaki, S. Uehara, Y. Iio, H. Takei, T. Kitazawa, M. Koike, Y. Matsushita, Y. Ito

Journal:

Journal of Crystal Growth

Year:

2003

Language:

english

File:

PDF, 290 KB

english, 2003

39

Dichorionic twin fetuses with VACTERL association

Sorahiro Sunagawa, Akihiko Kikuchi, Shiro Yoshida, Susumu Miyashita, Kimiyo Takagi, Hiroshi Kawame, Yoshiaki Kondo, Tomohiko Nakamura

Journal:

Journal of Obstetrics and Gynaecology Research

Year:

2007

Language:

english

File:

PDF, 176 KB

english, 2007

40

Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1)

Tsuguhiro Horikoshi, Akihiko Kikuchi, Shunsuke Tamaru, Kyoko Ono, Mariko Kita, Kimiyo Takagi, Susumu Miyashita, Hiroshi Kawame, Osamu Shimokawa, Naoki Harada

Journal:

Journal of Obstetrics and Gynaecology Research

Year:

2010

Language:

english

File:

PDF, 600 KB

english, 2010

41

Prenatal diagnosis of Holt-Oram syndrome: Role of 3-D ultrasonography

Sorahiro Sunagawa, Akihiko Kikuchi, Yoko Sano, Mariko Kita, Kyoko Ono, Tsuguhiro Horikoshi, Kimiyo Takagi, Hiroshi Kawame

Journal:

Congenital Anomalies

Year:

2009

Language:

english

File:

PDF, 217 KB

english, 2009

42

Germline mutations in HRAS proto-oncogene cause Costello syndrome

Aoki, Yoko, Niihori, Tetsuya, Kawame, Hiroshi, Kurosawa, Kenji, Ohashi, Hirofumi, Tanaka, Yukichi, Filocamo, Mirella, Kato, Kumi, Suzuki, Yoichi, Kure, Shigeo

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 239 KB

english, 2005

43

Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations

H. Ida, O. M. Rennert, H. Kawame, K. Maekawa, Y. Eto

Journal:

Journal of Inherited Metabolic Disease

Year:

1997

File:

PDF, 308 KB

1997

44

Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: Findings from a nationwide epidemiological survey

Yu Abe, Yoko Aoki, Shinichi Kuriyama, Hiroshi Kawame, Nobuhiko Okamoto, Kenji Kurosawa, Hirofumi Ohashi, Seiji Mizuno, Tsutomu Ogata, Shigeo Kure, Tetsuya Niihori, Yoichi Matsubara, Costello, CFC synd

Journal:

American Journal of Medical Genetics Part A

Year:

2012

Language:

english

File:

PDF, 414 KB

english, 2012

45

Attitudes toward non-invasive prenatal diagnosis among pregnant women and health professionals in Japan

Junko Yotsumoto, Akihiko Sekizawa, Keiko Koide, Yuditiya Purwosunu, Kiyotake Ichizuka, Ryu Matsuoka, Hiroshi Kawame, Takashi Okai

Journal:

Prenatal Diagnosis

Year:

2012

Language:

english

File:

PDF, 96 KB

english, 2012

46

Determining the elemental composition of Calotropis procera using X-ray Analytical Microscopy

Atta Gaffar Attaelmanan, Mohammed Alfarouk Kawam

Journal:

X-Ray Spectrometry

Year:

2012

Language:

english

File:

PDF, 324 KB

english, 2012

47

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome

Kenji Kurosawa, Hiroshi Kawame, Nobuhiko Okamoto, Yukikatsu Ochiai, Akira Akatsuka, Masahisa Kobayashi, Masayuki Shimohira, Seiji Mizuno, Kazuko Wada, Yoshimitsu Fukushima, Hisashi Kawawaki, Toshiyuki

Journal:

Brain and Development

Year:

2005

Language:

english

File:

PDF, 85 KB

english, 2005

48

Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

H. Ida, O.M. Rennert, H. Kawame, T. Ito, K. Maekawa, Y. Eto

Journal:

Early Human Development

Year:

1997

Language:

english

File:

PDF, 51 KB

english, 1997

49

Phenotypic spectrum and management issues in Kabuki syndrome

Hiroshi Kawame, Mark C. Hannibal, Louanne Hudgins, Roberta A. Pagon

Journal:

The Journal of Pediatrics

Year:

1999

Language:

english

File:

PDF, 521 KB

english, 1999

50

Graves' disease in patients with 22q11.2 deletion

Hiroshi Kawame, Masanori Adachi, Katsuhiko Tachibana, Kenji Kurosawa, Fumiyuki Ito, Marie M. Gleason, Stuart Weinzimer, Lorraine Levitt-Katz, Kathleen Sullivan, Donna M. McDonald-McGinn

Journal:

The Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 61 KB

english, 2001

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