共 12 条
[1]
Big, bad minisatellites
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NATURE GENETICS,
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Buard, J
论文数: 0 引用数: 0
h-index: 0
机构: Department of Genetics, University of Leicester

Jeffreys, AJ
论文数: 0 引用数: 0
h-index: 0
机构: Department of Genetics, University of Leicester
[2]
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
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Campuzano, V
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Montermini, L
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Molto, MD
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Pianese, L
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Cossee, M
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Cavalcanti, F
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Monros, E
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Rodius, F
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Duclos, F
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Monticelli, A
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Zara, F
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Canizares, J
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Koutnikova, H
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Bidichandani, SI
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Gellera, C
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Brice, A
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Trouillas, P
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DeMichele, G
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Filla, A
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DeFrutos, R
;
Palau, F
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Patel, PI
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DiDonato, S
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Mandel, JL
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Cocozza, S
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Koenig, M
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Pandolfo, M
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SCIENCE,
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Campuzano, V
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Montermini, L
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Molto, MD
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Pianese, L
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Cossee, M
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Cavalcanti, F
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Monros, E
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Rodius, F
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Duclos, F
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Monticelli, A
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Zara, F
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Canizares, J
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Koutnikova, H
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Bidichandani, SI
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Gellera, C
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Brice, A
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Trouillas, P
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

DeMichele, G
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Filla, A
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

DeFrutos, R
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Palau, F
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Patel, PI
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

DiDonato, S
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Mandel, JL
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Cocozza, S
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Koenig, M
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE

Pandolfo, M
论文数: 0 引用数: 0
h-index: 0
机构: UNIV STRASBOURG 1,INST BIOL & BIOL MOLEC & CELLULAIRE,INSERM,F-67404 ILLKIRCH GRAFFENS,FRANCE
[3]
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[4]
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Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1
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Lafreniere, RG
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Rochefort, DL
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Patry, G
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Hale, BR
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Cossio, OH
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Lafreniere, RG
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h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Rochefort, DL
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Chretien, N
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Rommens, JM
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Cochius, JI
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Kalviainen, R
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h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Nousiainen, U
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Patry, G
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Farrell, K
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Soderfeldt, B
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Federico, A
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Hale, BR
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Cossio, OH
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Sorensen, T
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Pouliot, MA
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Kmiec, T
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Uldall, P
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Janszky, J
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Pranzatelli, MR
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Andermann, F
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Andermann, E
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA

Rouleau, GA
论文数: 0 引用数: 0
h-index: 0
机构: MONTREAL GEN HOSP, RES INST, DEPT NEUROL, MONTREAL, PQ H3G 1A4, CANADA
[6]
Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
[J].
Lalioti, MD
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Bottani, A
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NATURE,
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Lalioti, MD
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h-index: 0
机构: HOSP BELLE IDEE,DEPT GENET & MICROBIOL,LAB HUMAN MOL GENET,CH-1211 GENEVA,SWITZERLAND

Scott, HS
论文数: 0 引用数: 0
h-index: 0
机构: HOSP BELLE IDEE,DEPT GENET & MICROBIOL,LAB HUMAN MOL GENET,CH-1211 GENEVA,SWITZERLAND

Buresi, C
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h-index: 0
机构: HOSP BELLE IDEE,DEPT GENET & MICROBIOL,LAB HUMAN MOL GENET,CH-1211 GENEVA,SWITZERLAND

Rossier, C
论文数: 0 引用数: 0
h-index: 0
机构: HOSP BELLE IDEE,DEPT GENET & MICROBIOL,LAB HUMAN MOL GENET,CH-1211 GENEVA,SWITZERLAND

Bottani, A
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h-index: 0
机构: HOSP BELLE IDEE,DEPT GENET & MICROBIOL,LAB HUMAN MOL GENET,CH-1211 GENEVA,SWITZERLAND

Morris, MA
论文数: 0 引用数: 0
h-index: 0
机构: HOSP BELLE IDEE,DEPT GENET & MICROBIOL,LAB HUMAN MOL GENET,CH-1211 GENEVA,SWITZERLAND

Malafosse, A
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h-index: 0
机构: HOSP BELLE IDEE,DEPT GENET & MICROBIOL,LAB HUMAN MOL GENET,CH-1211 GENEVA,SWITZERLAND

Antonarakis, SE
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机构: HOSP BELLE IDEE,DEPT GENET & MICROBIOL,LAB HUMAN MOL GENET,CH-1211 GENEVA,SWITZERLAND
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Pennacchio, LA
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Pennacchio, LA
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机构: STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305

Stone, NE
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机构: STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305

Willour, VL
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机构: STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305

Virtaneva, K
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机构: STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305

Miao, JM
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机构: STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305

DAmato, E
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机构: STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305

Ramirez, L
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机构: STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305

Faham, M
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机构: STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305

Koskiniemi, M
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机构: STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305

Warrington, JA
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机构: STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305

Norio, R
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机构: STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305

delaChapelle, A
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h-index: 0
机构: STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305

Cox, DR
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机构: STANFORD UNIV,SCH MED,DEPT GENET,STANFORD,CA 94305

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ANALYSIS OF THE OA1 GENE REVEALS MUTATIONS IN ONLY 1/3 OF PATIENTS WITH X-LINKED OCULAR ALBINISM
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BASSI, MT
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GALLI, L
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RENIERI, A
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BRUTTINI, M
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DENIGRIS, F
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机构: TELETHON INST GENET & MED,I-20132 MILAN,ITALY

BERGEN, AAB
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h-index: 0
机构: TELETHON INST GENET & MED,I-20132 MILAN,ITALY

CHARLES, SJ
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机构: TELETHON INST GENET & MED,I-20132 MILAN,ITALY

YATES, JRW
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机构: TELETHON INST GENET & MED,I-20132 MILAN,ITALY

MEINDL, A
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机构: TELETHON INST GENET & MED,I-20132 MILAN,ITALY

LEWIS, RA
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h-index: 0
机构: TELETHON INST GENET & MED,I-20132 MILAN,ITALY

KING, RA
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机构: TELETHON INST GENET & MED,I-20132 MILAN,ITALY

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Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1
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Virtaneva, K
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机构: UNIV HELSINKI, DEPT MED GENET, HAARTMAN INST, FIN-00014 HELSINKI, FINLAND

DAmato, E
论文数: 0 引用数: 0
h-index: 0
机构: UNIV HELSINKI, DEPT MED GENET, HAARTMAN INST, FIN-00014 HELSINKI, FINLAND

Miao, IM
论文数: 0 引用数: 0
h-index: 0
机构: UNIV HELSINKI, DEPT MED GENET, HAARTMAN INST, FIN-00014 HELSINKI, FINLAND

Koskiniemi, M
论文数: 0 引用数: 0
h-index: 0
机构: UNIV HELSINKI, DEPT MED GENET, HAARTMAN INST, FIN-00014 HELSINKI, FINLAND

Norio, R
论文数: 0 引用数: 0
h-index: 0
机构: UNIV HELSINKI, DEPT MED GENET, HAARTMAN INST, FIN-00014 HELSINKI, FINLAND

Avanzini, G
论文数: 0 引用数: 0
h-index: 0
机构: UNIV HELSINKI, DEPT MED GENET, HAARTMAN INST, FIN-00014 HELSINKI, FINLAND

Franceschetti, S
论文数: 0 引用数: 0
h-index: 0
机构: UNIV HELSINKI, DEPT MED GENET, HAARTMAN INST, FIN-00014 HELSINKI, FINLAND

Michelucci, R
论文数: 0 引用数: 0
h-index: 0
机构: UNIV HELSINKI, DEPT MED GENET, HAARTMAN INST, FIN-00014 HELSINKI, FINLAND

论文数: 引用数:
h-index:
机构:

Omer, S
论文数: 0 引用数: 0
h-index: 0
机构: UNIV HELSINKI, DEPT MED GENET, HAARTMAN INST, FIN-00014 HELSINKI, FINLAND

Pennacchio, LA
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Myers, RM
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DieguezLucena, JL
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Krahe, R
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delaChapelle, A
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Lehesjoki, AE
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