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Volume 43; Issue 2
Main
Journal of Human Genetics
Volume 43; Issue 2
Journal of Human Genetics
Volume 43; Issue 2
1
Retrotransposal integration of mobile genetic elements in human diseases
Yoshio Miki
Journal:
Journal of Human Genetics
Year:
1998
Language:
english
File:
PDF, 290 KB
Your tags:
english, 1998
2
Age-specific incidences of chromosome abnormalities at the second trimester amniocentesis for Japanese mothers aged 35 and older: collaborative study of 5484 cases
Nobuo Yaegashi
,
Masato Senoo
,
S. Uehara
,
Hisako Suzuki
,
Tohru Maeda
,
Keiya Fujimori
,
Fumiki Hirahara
,
Akira Yajima
Journal:
Journal of Human Genetics
Year:
1998
Language:
english
File:
PDF, 197 KB
Your tags:
english, 1998
3
Molecular basis of intermittent maple syrup urine disease: novel mutations in theE2gene of the branched-chain α-keto acid dehydrogenase complex
Motoko Tsuruta
,
Hiroshi Mitsubuchi
,
S. Mardy
,
Yuichi Miura
,
Yumi Hayashida
,
Akihiko Kinugasa
,
Takateru Ishitsu
,
Ichiro Matsuda
,
Y. Indo
Journal:
Journal of Human Genetics
Year:
1998
Language:
english
File:
PDF, 632 KB
Your tags:
english, 1998
4
Mutational analysis of theRETproto-oncogene in 71 Japanese patients with medullary thyroid carcinoma
Syuya Shirahama
,
K. Ogura
,
Hiroshi Takami
,
Kunihiko Ito
,
Tohichi Tohsen
,
Akira Miyauchi
,
Yusuke Nakamura
,
First Department of Surgery
,
Teikyo University School of Medicine
,
Tokyo
,
Japan
Journal:
Journal of Human Genetics
Year:
1998
Language:
english
File:
PDF, 273 KB
Your tags:
english, 1998
5
Mutations in the hepatocyte nuclear factor-1α gene (MODY3) are not a major cause of early-onset non-insulin-dependent (type 2) diabetes mellitus in Japanese
Hidekazu Nishigori
,
Shirou Yamada
,
Tomoko Kohama
,
Toshihiro Utsugi
,
Hiroyuki Shimizu
,
Toshiyuki Takeuchi
,
J. Takeda
Journal:
Journal of Human Genetics
Year:
1998
Language:
english
File:
PDF, 197 KB
Your tags:
english, 1998
6
Analysis of bilirubin uridine 5′-diphosphate (UDP)-glucuronosyltransferase gene mutations in seven patients with Crigler-Najjar syndrome type II
Kazuo Yamamoto
,
Yoko Soeda
,
Toshinori Kamisako
,
Hiroo Hosaka
,
Miya Fukano
,
H. Sato
,
Yoshihide Fujiyama
,
Yukihiko Adachi
,
Yuzuru Satoh
,
Tadao Bamba
Journal:
Journal of Human Genetics
Year:
1998
Language:
english
File:
PDF, 277 KB
Your tags:
english, 1998
7
Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia
Yoshikazu Shimada
,
Shiro Okuno
,
Atushi Kawai
,
Hiroichi Shinomiya
,
Akihiko Saito
,
Mikio Suzuki
,
Yoshihiro Omori
,
Naoki Nishino
,
Naohide Kanemoto
,
Tsutomu Fujiwara
,
Masato Horie
,
E. Takahashi
Journal:
Journal of Human Genetics
Year:
1998
Language:
english
File:
PDF, 706 KB
Your tags:
english, 1998
8
Identification of brain-specific splicing variants of thehDLG1gene and altered splicing in neuroblastoma cell lines
Kanji Mori
,
Kyoko Iwao
,
Yasuo Miyoshi
,
Akira Nakagawara
,
Kazuyoshi Kofu
,
Tetsu Akiyama
,
Norio Arita
,
Toru Hayakawa
,
Y. Nakamura
Journal:
Journal of Human Genetics
Year:
1998
Language:
english
File:
PDF, 259 KB
Your tags:
english, 1998
9
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy
S. Kure
,
Yoshiyuki Sakata
,
Shigeaki Miyabayashi
,
Kazutoshi Takahashi
,
Toshikatsu Shinka
,
Yoichi Matsubara
,
Hisao Hoshino
,
Kuniaki Narisawa
Journal:
Journal of Human Genetics
Year:
1998
Language:
english
File:
PDF, 158 KB
Your tags:
english, 1998
10
Genomic organization and mapping of the human activin receptor type IIB (hActR-IIB) gene
Shinji Ishikawa
,
Mikio Kai
,
Yasushi Murata
,
Mayumi Tamari
,
Yataro Daigo
,
Takeshi Murano
,
Michio Ogawa
,
Y. Nakamura
Journal:
Journal of Human Genetics
Year:
1998
Language:
english
File:
PDF, 203 KB
Your tags:
english, 1998
11
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia
S. Kure
,
Toshikatsu Shinka
,
Yoshiyuki Sakata
,
Narasaki Osamu
,
Masaru Takayanagi
,
Keiya Tada
,
Yoichi Matsubara
,
Kuniaki Narisawa
Journal:
Journal of Human Genetics
Year:
1998
Language:
english
File:
PDF, 236 KB
Your tags:
english, 1998
12
Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation
O. Miyoshi
,
Satoshi Hayashi
,
Masahiro Fujimoto
,
Hiroaki Tomita
,
Masakazu Sohda
,
Norio Niikawa
Journal:
Journal of Human Genetics
Year:
1998
Language:
english
File:
PDF, 209 KB
Your tags:
english, 1998
13
Novel germline mutations ofhMSH2in a patient with hereditary nonpolyposis colorectal cancer (HNPCC) and in a patient with six primary cancers
S. Okamura
,
K. Koyama
,
Yasuo Miyoshi
,
Morito Monden
,
Motohisa Takami
Journal:
Journal of Human Genetics
Year:
1998
Language:
english
File:
PDF, 207 KB
Your tags:
english, 1998
14
A polymorphic CA repeat sequence at the human calcitonin locus
Kazuhiro Tsukamoto
,
M. Emi
Journal:
Journal of Human Genetics
Year:
1998
Language:
english
File:
PDF, 132 KB
Your tags:
english, 1998
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