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- [1] Further delineation of Kabuki syndrome in 48 well-defined new individuals[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 132A (03) : 265 - 272Armstrong, L论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaEl Moneim, AA论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaAleck, K论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaAughton, DJ论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaBaumann, C论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaBraddock, SR论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaGillessen-Kaesbach, G论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaGraham, JM论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaGrebe, TA论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaGripp, KW论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaHall, BD论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaHennekam, R论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaHunter, A论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaKeppler-Noreuil, K论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaLacombe, D论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaLin, AE论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaMing, JE论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaKokitsu-Nakata, NM论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaNikkel, SM论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaPhilip, N论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaRaas-Rothschild, A论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaSommer, A论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaVerloes, A论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaWalter, C论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaWieczorek, D论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaWilliams, MS论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaZackai, E论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, CanadaAllanson, JE论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Dept Genet, Ottawa, ON K1H 8L1, Canada
- [2] A NEW MALFORMATION SYNDROME OF LONG PALPEBRAL FISSURES, LARGE EARS, DEPRESSED NASAL TIP, AND SKELETAL ANOMALIES ASSOCIATED WITH POSTNATAL DWARFISM AND MENTAL-RETARDATION[J]. JOURNAL OF PEDIATRICS, 1981, 99 (04) : 570 - 573KUROKI, Y论文数: 0 引用数: 0 h-index: 0SUZUKI, Y论文数: 0 引用数: 0 h-index: 0CHYO, H论文数: 0 引用数: 0 h-index: 0HATA, A论文数: 0 引用数: 0 h-index: 0MATSUI, I论文数: 0 引用数: 0 h-index: 0
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- [4] No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients[J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (03) : 291 - 293Miyake, N论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanShimokawa, O论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanHarada, N论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanSosonkina, N论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanOkubo, A论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanKawara, H论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanOkamoto, N论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanOhashi, H论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanKurosawa, K论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanNaritomi, K论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanKaname, T论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanNagai, T论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanShotelersuk, V论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanHou, JW论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanFukushima, Y论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanKondoh, T论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanMatsumoto, T论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanShinoki, T论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanKato, M论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanTonoki, H论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanNomura, M论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanYoshiura, K论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanKishino, T论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanOhta, T论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanNiikawa, N论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, JapanMatsumoto, N论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Grad Sch Med, Dept Human Genet, Kanazawa Ku, Yokohama, Kanagawa 2360004, Japan
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