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Publications
2.8K
Citations
133.2K
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276
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Yokohama, Japan
2.8K
276
49
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42
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1–5 of 276
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP
Fred Petrif, Rachel H. Giles, Hans G. Dauwerse et al. · Nature · 1995 · 1.2K citations
Germline mutations in HRAS proto-oncogene cause Costello syndrome
Yoko Aoki, Tetsuya Niihori, Hiroshi Kawame et al. · Nature Genetics · 2005 · 674 citations
Haploinsufficiency of NSD1 causes Sotos syndrome
Naohiro Kurotaki, Kiyoshi Imaizumi, Naoki Harada et al. · Nature Genetics · 2002 · 656 citations
Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome
Tetsuya Niihori, Yoko Aoki, Yoko Narumi et al. · Nature Genetics · 2006 · 599 citations
1–5 of 2.8K