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- [31] From Genotype to Phenotype-A Review of Kabuki SyndromeGENES, 2022, 13 (10)Barry, Kelly K.论文数: 0 引用数: 0 h-index: 0机构: Tufts Univ, Sch Med, Boston, MA 02111 USA Tufts Univ, Sch Med, Boston, MA 02111 USATsaparlis, Michaelangelo论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Tufts Univ, Sch Med, Boston, MA 02111 USAHoffman, Deborah论文数: 0 引用数: 0 h-index: 0机构: Takeda Pharmaceut, Cambridge, MA 02139 USA Tufts Univ, Sch Med, Boston, MA 02111 USAHartman, Deborah论文数: 0 引用数: 0 h-index: 0机构: Orexia Therapeut, Boston, MA 02115 USA Tufts Univ, Sch Med, Boston, MA 02111 USAAdam, Margaret P.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Pediat, Div Genet Med, Seattle, WA 98195 USA Tufts Univ, Sch Med, Boston, MA 02111 USAHung, Christina论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Tufts Univ, Sch Med, Boston, MA 02111 USABodamer, Olaf A.论文数: 0 引用数: 0 h-index: 0机构: Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA Broad Inst Mit & Harvard Univ, Cambridge, MA 02142 USA Tufts Univ, Sch Med, Boston, MA 02111 USA
- [32] Rare ocular features in a case of Kabuki syndrome (Niikawa-Kuroki syndrome)BMC Ophthalmology, 2014, 14Chen, Yi-Hsing论文数: 0 引用数: 0 h-index: 0机构: Chang Gung Mem Hosp, Dept Ophthalmol, Taoyuan 333, Taiwan Chang Gung Univ, Coll Med, Taoyuan, Taiwan Chang Gung Mem Hosp, Dept Ophthalmol, Taoyuan 333, TaiwanSun, Ming-Hui论文数: 0 引用数: 0 h-index: 0机构: Chang Gung Mem Hosp, Dept Ophthalmol, Taoyuan 333, Taiwan Chang Gung Univ, Coll Med, Taoyuan, Taiwan Chang Gung Mem Hosp, Dept Ophthalmol, Taoyuan 333, TaiwanHsia, Shao-Hsuan论文数: 0 引用数: 0 h-index: 0机构: Chang Gung Mem Hosp, Dept Ophthalmol, Taoyuan 333, Taiwan Chang Gung Mem Hosp, Dept Pediat, Taoyuan 333, Taiwan Chang Gung Mem Hosp, Dept Ophthalmol, Taoyuan 333, TaiwanLai, Chi-Chun论文数: 0 引用数: 0 h-index: 0机构: Chang Gung Mem Hosp, Dept Ophthalmol, Taoyuan 333, Taiwan Chang Gung Univ, Coll Med, Taoyuan, Taiwan Chang Gung Mem Hosp, Dept Ophthalmol, Taoyuan 333, TaiwanWu, Wei-Chi论文数: 0 引用数: 0 h-index: 0机构: Chang Gung Mem Hosp, Dept Ophthalmol, Taoyuan 333, Taiwan Chang Gung Univ, Coll Med, Taoyuan, Taiwan Chang Gung Mem Hosp, Dept Ophthalmol, Taoyuan 333, Taiwan
- [33] Autoimmune haematological disorders in two Italian children with Kabuki SyndromeITALIAN JOURNAL OF PEDIATRICS, 2014, 40Giordano, Paola论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Paediat Hosp, Dept Biomed Sci & Human Oncol, I-70124 Bari, Italy Univ Bari Aldo Moro, Paediat Hosp, Dept Biomed Sci & Human Oncol, I-70124 Bari, ItalyLassandro, Giuseppe论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Paediat Hosp, Dept Biomed Sci & Human Oncol, I-70124 Bari, Italy Univ Bari Aldo Moro, Paediat Hosp, Dept Biomed Sci & Human Oncol, I-70124 Bari, ItalySangerardi, Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Paediat Hosp, Dept Biomed Sci & Human Oncol, I-70124 Bari, Italy Univ Bari Aldo Moro, Paediat Hosp, Dept Biomed Sci & Human Oncol, I-70124 Bari, Italy论文数: 引用数: h-index:机构:Valente, Federica论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Paediat Hosp, Dept Biomed Sci & Human Oncol, I-70124 Bari, Italy Univ Bari Aldo Moro, Paediat Hosp, Dept Biomed Sci & Human Oncol, I-70124 Bari, ItalyMartire, Baldassarre论文数: 0 引用数: 0 h-index: 0机构: Univ Bari Aldo Moro, Paediat Hosp, Dept Biomed Sci & Human Oncol, I-70124 Bari, Italy Univ Bari Aldo Moro, Paediat Hosp, Dept Biomed Sci & Human Oncol, I-70124 Bari, Italy
- [34] Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutationsHELIYON, 2023, 9 (10)Yi, Sheng论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Birth Defects & Stem Cell Biobank, Guangxi Clin Res Ctr Pediat Dis,Guangxi Key Lab Re, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaZhang, Xiaofei论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Pediat Dept, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaYang, Qi论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Birth Defects & Stem Cell Biobank, Guangxi Clin Res Ctr Pediat Dis,Guangxi Key Lab Re, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaHuang, Jingjing论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Surg, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaZhou, Xunzhao论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Birth Defects & Stem Cell Biobank, Guangxi Clin Res Ctr Pediat Dis,Guangxi Key Lab Re, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaQian, Jiale论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Pediat Dept, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaPan, Pingshan论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Dept Obstet, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaYi, Shang论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Birth Defects & Stem Cell Biobank, Guangxi Clin Res Ctr Pediat Dis,Guangxi Key Lab Re, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaZhang, Shujie论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Birth Defects & Stem Cell Biobank, Guangxi Clin Res Ctr Pediat Dis,Guangxi Key Lab Re, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaZhang, Qiang论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Birth Defects & Stem Cell Biobank, Guangxi Clin Res Ctr Pediat Dis,Guangxi Key Lab Re, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaTang, Xianglian论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Birth Defects & Stem Cell Biobank, Guangxi Clin Res Ctr Pediat Dis,Guangxi Key Lab Re, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaHuang, Limei论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Birth Defects & Stem Cell Biobank, Guangxi Clin Res Ctr Pediat Dis,Guangxi Key Lab Re, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaZhang, Qinle论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Birth Defects & Stem Cell Biobank, Guangxi Clin Res Ctr Pediat Dis,Guangxi Key Lab Re, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaQin, Zailong论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Birth Defects & Stem Cell Biobank, Guangxi Clin Res Ctr Pediat Dis,Guangxi Key Lab Re, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Lab Genet & Metab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R ChinaLuo, Jingsi论文数: 0 引用数: 0 h-index: 0机构: Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Key Lab Birth Defects Res & Prevent, Guangxi Key Lab Birth Defects & Stem Cell Biobank, Guangxi Clin Res Ctr Pediat Dis,Guangxi Key Lab Re, Nanning, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Lab Genet & Metab, Nanning 530003, Peoples R China Maternal & Child Hlth Hosp Guangxi Zhuang Autonomo, Guangxi Birth Defects Res & Prevent Inst, Genet & Metab Cent Lab, Nanning, Peoples R China
- [35] Longitudinal Cognitive and Behavioral Presentation of Adult Female with Kabuki SyndromeAMERICAN JOURNAL OF CASE REPORTS, 2019, 20 : 430 - 436Ventola, Pamela论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Child Study Ctr, New Haven, CT 06520 USA Yale Univ, Child Study Ctr, New Haven, CT 06520 USAPomales-Ramos, Anamiguel论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Child Study Ctr, New Haven, CT 06520 USA Yale Univ, Child Study Ctr, New Haven, CT 06520 USADeLucia, Elizabeth A.论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Child Study Ctr, New Haven, CT 06520 USA Yale Univ, Child Study Ctr, New Haven, CT 06520 USA
- [36] Dilated vein of Galen in Kabuki syndromeBRAIN & DEVELOPMENT, 2012, 34 (01) : 76 - 79Sanchez-Carpintero, Rocio论文数: 0 引用数: 0 h-index: 0机构: Univ Navarra Clin, Pediat Neurol Unit, Dept Pediat, Pamplona 31080, Spain Univ Navarra Clin, Pediat Neurol Unit, Dept Pediat, Pamplona 31080, SpainHerranz, Ana论文数: 0 引用数: 0 h-index: 0机构: Univ Navarra Clin, Pediat Neurol Unit, Dept Pediat, Pamplona 31080, Spain Univ Navarra Clin, Pediat Neurol Unit, Dept Pediat, Pamplona 31080, SpainReynoso, Cesar论文数: 0 引用数: 0 h-index: 0机构: Univ Navarra Clin, Pediat Neurol Unit, Dept Pediat, Pamplona 31080, Spain Univ Navarra Clin, Pediat Neurol Unit, Dept Pediat, Pamplona 31080, SpainLuis Zubieta, Jose论文数: 0 引用数: 0 h-index: 0机构: Univ Navarra Clin, Neuroradiol Unit, Dept Radiol, Pamplona 31080, Spain Univ Navarra Clin, Pediat Neurol Unit, Dept Pediat, Pamplona 31080, Spain
- [37] KDM6A Point Mutations Cause Kabuki SyndromeHUMAN MUTATION, 2013, 34 (01) : 108 - 110Miyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanMizuno, Seiji论文数: 0 引用数: 0 h-index: 0机构: Cent Hosp Kasugai, Aichi Human Serv Ctr, Dept Pediat, Kasugai, Aichi, Japan Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanOkamoto, Nobuhiko论文数: 0 引用数: 0 h-index: 0机构: Osaka Med Ctr, Div Med Genet, Izumi, Japan Res Inst Maternal & Child Hlth, Izumi, Japan Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanOhashi, Hirofumi论文数: 0 引用数: 0 h-index: 0机构: Saitama Childrens Med Ctr, Div Med Genet, Iwatsuki, Saitama, Japan Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanShiina, Masaaki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ Grad Sch Med, Dept Biochem, Yokohama, Kanagawa, Japan Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanOgata, Kazuhiro论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ Grad Sch Med, Dept Biochem, Yokohama, Kanagawa, Japan Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanTsurusaki, Yoshinori论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanNakashima, Mitsuko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanSaitsu, Hirotomo论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanNiikawa, Norio论文数: 0 引用数: 0 h-index: 0机构: Hlth Sci Univ Hokkaido, Res Inst Personalized Hlth Sci, Ishikari, Hokkaido, Japan Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, JapanMatsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan Yokohama City Univ Grad Sch Med, Dept Human Genet, Yokohama, Kanagawa, Japan
- [38] Congenital heart defects in Kabuki syndromeCARDIOLOGY JOURNAL, 2013, 20 (02) : 121 - 124Yuan, Shi-Min论文数: 0 引用数: 0 h-index: 0机构: Fujian Med Univ, Teaching Hosp, Hosp Putian 1, Putian 351100, Fujian Province, Peoples R China Fujian Med Univ, Teaching Hosp, Hosp Putian 1, Putian 351100, Fujian Province, Peoples R China
- [39] Orofacial features and medical profile of eight individuals with Kabuki syndromeMEDICINA ORAL PATOLOGIA ORAL Y CIRUGIA BUCAL, 2019, 24 (05): : E630 - E635Silva-Andrade, Natalia论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sao Paulo, Brazil Univ Sao Paulo, Sao Paulo, BrazilLopez-Ortega, Karem论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sao Paulo, Brazil Univ Sao Paulo, Sao Paulo, BrazilGallottini, Marina论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sao Paulo, Brazil Univ Sao Paulo, Sao Paulo, Brazil
- [40] Kabuki make-up syndrome with unilateral renal agenesisTURKISH JOURNAL OF PEDIATRICS, 2009, 51 (03) : 298 - 300Rosti, Rasirn Oezguer论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, TurkeyKayserili, Huelya论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey