共 14 条
[1]
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
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Dorschner, MO
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Sybert, VP
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Weaver, M
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Pletcher, BA
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Stephens, K
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HUMAN MOLECULAR GENETICS,
2000, 9 (01)
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Dorschner, MO
论文数: 0 引用数: 0
h-index: 0
机构: Univ Washington, Dept Med, Seattle, WA 98195 USA

Sybert, VP
论文数: 0 引用数: 0
h-index: 0
机构: Univ Washington, Dept Med, Seattle, WA 98195 USA

Weaver, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Washington, Dept Med, Seattle, WA 98195 USA

Pletcher, BA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Washington, Dept Med, Seattle, WA 98195 USA

Stephens, K
论文数: 0 引用数: 0
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机构: Univ Washington, Dept Med, Seattle, WA 98195 USA
[2]
A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family
[J].
Fan, Z.
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Li, J.
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Du, J.
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Zhang, H.
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Shen, Y.
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Wang, C-Y
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Wang, S.
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JOURNAL OF MEDICAL GENETICS,
2008, 45 (05)
:303-308

Fan, Z.
论文数: 0 引用数: 0
h-index: 0
机构:
Capital Med Univ, Sch Stomatol, Mol Lab Gene Therapy, Beijing 100050, Peoples R China Capital Med Univ, Sch Stomatol, Mol Lab Gene Therapy, Beijing 100050, Peoples R China

Li, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Capital Med Univ, Sch Stomatol, Mol Lab Gene Therapy, Beijing 100050, Peoples R China Capital Med Univ, Sch Stomatol, Mol Lab Gene Therapy, Beijing 100050, Peoples R China

Du, J.
论文数: 0 引用数: 0
h-index: 0
机构:
Capital Med Univ, Sch Stomatol, Mol Lab Gene Therapy, Beijing 100050, Peoples R China Capital Med Univ, Sch Stomatol, Mol Lab Gene Therapy, Beijing 100050, Peoples R China

Zhang, H.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Dept Biol & Mat Sci, Lab Mol Signaling & Apoptosis, Ann Arbor, MI 48109 USA Capital Med Univ, Sch Stomatol, Mol Lab Gene Therapy, Beijing 100050, Peoples R China

Shen, Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Chinese Natl Human Genome Ctr, Beijing, Peoples R China
Chinese Acad Med Sci, Peking Union Med Coll, Inst Basic Med Sci, Natl Lab Med Biol, Beijing, Peoples R China Capital Med Univ, Sch Stomatol, Mol Lab Gene Therapy, Beijing 100050, Peoples R China

Wang, C-Y
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Michigan, Dept Biol & Mat Sci, Lab Mol Signaling & Apoptosis, Ann Arbor, MI 48109 USA Capital Med Univ, Sch Stomatol, Mol Lab Gene Therapy, Beijing 100050, Peoples R China

Wang, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Capital Med Univ, Sch Stomatol, Mol Lab Gene Therapy, Beijing 100050, Peoples R China Capital Med Univ, Sch Stomatol, Mol Lab Gene Therapy, Beijing 100050, Peoples R China
[3]
High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome
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Fujii, Katsunori
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Ishikawa, Shumpei
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Uchikawa, Hideki
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Komura, Daisuke
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Shapero, Michael H.
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Shen, Fan
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Hung, Jing
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Arai, Hiroshi
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Tanaka, Yoko
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Sasaki, Kimio
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Kohno, Yoichi
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Yamada, Masao
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Jones, Keith W.
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Aburatani, Hiroyuki
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Miyashita, Toshiyuki
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HUMAN GENETICS,
2007, 122 (05)
:459-466

Fujii, Katsunori
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan

Ishikawa, Shumpei
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan

Uchikawa, Hideki
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan

Komura, Daisuke
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan

Shapero, Michael H.
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan

Shen, Fan
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan

Hung, Jing
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan

Arai, Hiroshi
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan

Tanaka, Yoko
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan

Sasaki, Kimio
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan

Kohno, Yoichi
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan

Yamada, Masao
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan

Jones, Keith W.
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan

Aburatani, Hiroyuki
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan

Miyashita, Toshiyuki
论文数: 0 引用数: 0
h-index: 0
机构: Natl Res Inst Child & Dev, Dept Genet, Setagaya Ku, Tokyo 1578535, Japan
[4]
Mutations in the Human Homologue of Drosophila patched in Japanese Nevoid Basal Cell Carcinoma Syndrome Patients
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Fujii, Katsunori
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Kohno, Yoichi
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Sugita, Katsuo
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Nakamura, Mihoko
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Moroi, Yoichi
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Urabe, Kazunori
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Furue, Masutaka
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Yamada, Masao
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Miyashita, Toshiyuki
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HUMAN MUTATION,
2003, 21 (04)
:451-452

Fujii, Katsunori
论文数: 0 引用数: 0
h-index: 0
机构:
Chiba Univ, Grad Sch Med, Dept Pediat, Chiba, Japan Chiba Univ, Grad Sch Med, Dept Pediat, Chiba, Japan

Kohno, Yoichi
论文数: 0 引用数: 0
h-index: 0
机构:
Chiba Univ, Grad Sch Med, Dept Pediat, Chiba, Japan Chiba Univ, Grad Sch Med, Dept Pediat, Chiba, Japan

Sugita, Katsuo
论文数: 0 引用数: 0
h-index: 0
机构:
Chiba Univ, Fac Educ, Chiba, Japan Chiba Univ, Grad Sch Med, Dept Pediat, Chiba, Japan

Nakamura, Mihoko
论文数: 0 引用数: 0
h-index: 0
机构:
Kagoshima Univ, Fac Med, Dept Pediat, Kagoshima, Japan Chiba Univ, Grad Sch Med, Dept Pediat, Chiba, Japan

Moroi, Yoichi
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h-index: 0
机构:
Kyushu Univ, Grad Sch Med Sci, Dept Dermatol, Fukuoka, Fukuoka, Japan Chiba Univ, Grad Sch Med, Dept Pediat, Chiba, Japan

Urabe, Kazunori
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h-index: 0
机构:
Kyushu Univ, Grad Sch Med Sci, Dept Dermatol, Fukuoka, Fukuoka, Japan Chiba Univ, Grad Sch Med, Dept Pediat, Chiba, Japan

Furue, Masutaka
论文数: 0 引用数: 0
h-index: 0
机构:
Kyushu Univ, Grad Sch Med Sci, Dept Dermatol, Fukuoka, Fukuoka, Japan Chiba Univ, Grad Sch Med, Dept Pediat, Chiba, Japan

Yamada, Masao
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Inst Child Hlth & Dev, Dept Genet, Tokyo, Japan Chiba Univ, Grad Sch Med, Dept Pediat, Chiba, Japan

Miyashita, Toshiyuki
论文数: 0 引用数: 0
h-index: 0
机构:
Natl Res Inst Child Hlth & Dev, Dept Genet, Tokyo, Japan Chiba Univ, Grad Sch Med, Dept Pediat, Chiba, Japan
[5]
The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas
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Gailani, MR
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StahleBackdahl, M
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Leffell, DJ
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Glynn, M
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Zaphiropoulos, PG
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Pressman, C
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Unden, AB
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NATURE GENETICS,
1996, 14 (01)
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Gailani, MR
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h-index: 0
机构: YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06520

StahleBackdahl, M
论文数: 0 引用数: 0
h-index: 0
机构: YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06520

Leffell, DJ
论文数: 0 引用数: 0
h-index: 0
机构: YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06520

Glynn, M
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h-index: 0
机构: YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06520

Zaphiropoulos, PG
论文数: 0 引用数: 0
h-index: 0
机构: YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06520

Pressman, C
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h-index: 0
机构: YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06520

Unden, AB
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h-index: 0
机构: YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06520

Dean, M
论文数: 0 引用数: 0
h-index: 0
机构: YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06520

Brash, DE
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h-index: 0
机构: YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06520

Bale, AE
论文数: 0 引用数: 0
h-index: 0
机构: YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06520

Toftgard, R
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机构: YALE UNIV,SCH MED,DEPT GENET,NEW HAVEN,CT 06520
[6]
NEVOID BASAL-CELL CARCINOMA SYNDROME
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MEDICINE,
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GORLIN, RJ
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[7]
Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome
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Hahn, H
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Wicking, C
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Zaphiropoulos, PG
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Gailani, MR
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Chidambaram, A
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Vorechovsky, I
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Holmberg, E
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Unden, AB
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Gillies, S
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Negus, K
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Smyth, I
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Pressman, C
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Leffell, DJ
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Gerrard, B
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CELL,
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Hahn, H
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机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Wicking, C
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h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Zaphiropoulos, PG
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Gailani, MR
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Shanley, S
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Chidambaram, A
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Vorechovsky, I
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Holmberg, E
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Unden, AB
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Gillies, S
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Negus, K
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Smyth, I
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Pressman, C
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Leffell, DJ
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Gerrard, B
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Goldstein, AM
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h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Dean, M
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Toftgard, R
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

ChenevixTrench, G
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Wainwright, B
论文数: 0 引用数: 0
h-index: 0
机构: NCI,VIRAL CARCINOGENESIS LAB,HUMAN GENET SECT,FREDERICK,MD 21702

Bale, AE
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h-index: 0
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[8]
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Johnson, RL
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SCIENCE,
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Johnson, RL
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h-index: 0
机构: UNIV CALIF SAN FRANCISCO, SAN FRANCISCO GEN HOSP, DEPT DERMATOL, SAN FRANCISCO, CA 94110 USA

Rothman, AL
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF SAN FRANCISCO, SAN FRANCISCO GEN HOSP, DEPT DERMATOL, SAN FRANCISCO, CA 94110 USA

Xie, JW
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF SAN FRANCISCO, SAN FRANCISCO GEN HOSP, DEPT DERMATOL, SAN FRANCISCO, CA 94110 USA

Goodrich, LV
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF SAN FRANCISCO, SAN FRANCISCO GEN HOSP, DEPT DERMATOL, SAN FRANCISCO, CA 94110 USA

Bare, JW
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF SAN FRANCISCO, SAN FRANCISCO GEN HOSP, DEPT DERMATOL, SAN FRANCISCO, CA 94110 USA

Bonifas, JM
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF SAN FRANCISCO, SAN FRANCISCO GEN HOSP, DEPT DERMATOL, SAN FRANCISCO, CA 94110 USA

Quinn, AG
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF SAN FRANCISCO, SAN FRANCISCO GEN HOSP, DEPT DERMATOL, SAN FRANCISCO, CA 94110 USA

Myers, RM
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF SAN FRANCISCO, SAN FRANCISCO GEN HOSP, DEPT DERMATOL, SAN FRANCISCO, CA 94110 USA

Cox, DR
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF SAN FRANCISCO, SAN FRANCISCO GEN HOSP, DEPT DERMATOL, SAN FRANCISCO, CA 94110 USA

Epstein, EH
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF SAN FRANCISCO, SAN FRANCISCO GEN HOSP, DEPT DERMATOL, SAN FRANCISCO, CA 94110 USA

Scott, MP
论文数: 0 引用数: 0
h-index: 0
机构: UNIV CALIF SAN FRANCISCO, SAN FRANCISCO GEN HOSP, DEPT DERMATOL, SAN FRANCISCO, CA 94110 USA
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HUMAN MUTATION,
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Kurotaki, N
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Harada, N
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Shimokawa, O
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Miyake, N
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Kawame, H
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Uetake, K
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Makita, Y
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Kondoh, T
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Ogata, T
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Hasegawa, T
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Nagai, T
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Ozaki, T
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Touyama, M
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Shenhav, R
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Ohashi, H
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Medne, L
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Shiihara, T
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Ohtsu, S
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Kato, Z
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Okamoto, N
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Nishimoto, J
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Lev, D
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Miyoshi, Y
论文数: 0 引用数: 0
h-index: 0
机构: Nagasaki Univ, Dept Human Genet, Grad Sch Biomed Sci, Nagasaki 8528523, Japan

Ishikiriyama, S
论文数: 0 引用数: 0
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Sonoda, T
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Sakazume, S
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Fukushima, Y
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Kurosawa, K
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Cheng, JF
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Yoshiura, K
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Ohta, T
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Kishino, T
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Niikawa, N
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Matsumoto, N
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[10]
PTCH mutations:: Distribution and analyses
[J].
Lindström, E
;
Shimokawa, T
;
Toftgård, R
;
Zaphiropoulos, PG
.
HUMAN MUTATION,
2006, 27 (03)
:215-219

Lindström, E
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机构:
Karolinska Inst, Dept Biosci, Novum, SE-14157 Huddinge, Sweden Karolinska Inst, Dept Biosci, Novum, SE-14157 Huddinge, Sweden

Shimokawa, T
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Karolinska Inst, Dept Biosci, Novum, SE-14157 Huddinge, Sweden Karolinska Inst, Dept Biosci, Novum, SE-14157 Huddinge, Sweden

Toftgård, R
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Karolinska Inst, Dept Biosci, Novum, SE-14157 Huddinge, Sweden Karolinska Inst, Dept Biosci, Novum, SE-14157 Huddinge, Sweden

Zaphiropoulos, PG
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Karolinska Inst, Dept Biosci, Novum, SE-14157 Huddinge, Sweden Karolinska Inst, Dept Biosci, Novum, SE-14157 Huddinge, Sweden