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- [41] ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndromeHUMAN MOLECULAR GENETICS, 2023, 32 (09) : 1429 - 1438Awamleh, Zain论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol Program, Res Inst, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Genet & Genome Biol Program, Res Inst, Toronto, ON M5G 1X8, CanadaChoufani, Sanaa论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol Program, Res Inst, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Genet & Genome Biol Program, Res Inst, Toronto, ON M5G 1X8, CanadaCytrynbaum, Cheryl论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Genet & Genome Biol Program, Res Inst, Toronto, ON M5G 1X8, CanadaAlkuraya, Fowzan S.论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Ctr Genom Med, Dept Translat Genom, Riyadh, Saudi Arabia Hosp Sick Children, Genet & Genome Biol Program, Res Inst, Toronto, ON M5G 1X8, CanadaScherer, Stephen论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol Program, Res Inst, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada Univ Toronto, Inst Med Sci, Toronto, ON M5S 1A8, Canada Hosp Sick Children, Genet & Genome Biol Program, Res Inst, Toronto, ON M5G 1X8, CanadaFernandes, Sofia论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, EPE, Coimbra, Portugal Familial Risk Clin, Inst Portugues Oncol Lisboa Francisco Gentil, Lisbon, Portugal Hosp Sick Children, Genet & Genome Biol Program, Res Inst, Toronto, ON M5G 1X8, CanadaRosas, Catarina论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, EPE, Coimbra, Portugal Hosp Sick Children, Genet & Genome Biol Program, Res Inst, Toronto, ON M5G 1X8, CanadaLouro, Pedro论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, EPE, Coimbra, Portugal Hosp Sick Children, Genet & Genome Biol Program, Res Inst, Toronto, ON M5G 1X8, CanadaDias, Patricia论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Lisboa Norte, Hosp Santa Maria, Dept Pediat, Serv Genet Med,EPE, Lisbon, Portugal Hosp Sick Children, Genet & Genome Biol Program, Res Inst, Toronto, ON M5G 1X8, CanadaNeves, Mariana Tomasio论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Lisboa Norte, Hosp Santa Maria, Dept Pediat, Serv Genet Med,EPE, Lisbon, Portugal Hosp Sick Children, Genet & Genome Biol Program, Res Inst, Toronto, ON M5G 1X8, CanadaSousa, Sergio B.论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Univ Coimbra, Hosp Pediat, Med Genet Unit, EPE, Coimbra, Portugal Hosp Sick Children, Genet & Genome Biol Program, Res Inst, Toronto, ON M5G 1X8, Canada论文数: 引用数: h-index:机构:
- [42] De novo SOX11 mutations cause Coffin–Siris syndromeNature Communications, 5Yoshinori Tsurusaki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsEriko Koshimizu论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsHirofumi Ohashi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsShubha Phadke论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsIkuyo Kou论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsMasaaki Shiina论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsToshifumi Suzuki论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNobuhiko Okamoto论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsShintaro Imamura论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsMichiaki Yamashita论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsSatoshi Watanabe论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsKoh-ichiro Yoshiura论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsHirofumi Kodera论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsSatoko Miyatake论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsMitsuko Nakashima论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsHirotomo Saitsu论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsKazuhiro Ogata论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsShiro Ikegawa论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNoriko Miyake论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human GeneticsNaomichi Matsumoto论文数: 0 引用数: 0 h-index: 0机构: Yokohama City University Graduate School of Medicine,Department of Human Genetics
- [43] Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literatureINTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY, 2017, 103 : 109 - 112Bianchi, Pier Marco论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Paediat Hosp, Sci Res Inst, Otorhinolaryngol Unit, Surg Dept, I-00100 Rome, Italy Bambino Gesu Paediat Hosp, Sci Res Inst, Otorhinolaryngol Unit, Surg Dept, I-00100 Rome, ItalyBianchi, Alessandra论文数: 0 引用数: 0 h-index: 0机构: Sapienza Univ, ENT Clin Med & Psychol, NESMOS Dept, Rome, Italy Bambino Gesu Paediat Hosp, Sci Res Inst, Otorhinolaryngol Unit, Surg Dept, I-00100 Rome, ItalyDigilio, Maria Cristina论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Paediat Hosp, Sci Res Inst, Genet & Rare Dis Res Div, I-00100 Rome, Italy Bambino Gesu Paediat Hosp, Sci Res Inst, Otorhinolaryngol Unit, Surg Dept, I-00100 Rome, ItalyTucci, Filippo Maria论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Paediat Hosp, Sci Res Inst, Otorhinolaryngol Unit, Surg Dept, I-00100 Rome, Italy Bambino Gesu Paediat Hosp, Sci Res Inst, Otorhinolaryngol Unit, Surg Dept, I-00100 Rome, ItalySitzia, Emanuela论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Paediat Hosp, Sci Res Inst, Otorhinolaryngol Unit, Surg Dept, I-00100 Rome, Italy Bambino Gesu Paediat Hosp, Sci Res Inst, Otorhinolaryngol Unit, Surg Dept, I-00100 Rome, ItalyDe Vincentiis, Giovanni Carlo论文数: 0 引用数: 0 h-index: 0机构: Bambino Gesu Paediat Hosp, Sci Res Inst, Otorhinolaryngol Unit, Surg Dept, I-00100 Rome, Italy Bambino Gesu Paediat Hosp, Sci Res Inst, Otorhinolaryngol Unit, Surg Dept, I-00100 Rome, Italy
- [44] Two novel mutations in ANKRD11 gene in KBG syndrome patients and incomplete penetrance of missense mutationsEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 181 - 181Amllal, Nada论文数: 0 引用数: 0 h-index: 0机构: Fac Med & Pharm Rabat, Rabat, Morocco Natl Inst Hyg, Med Genet, Rabat, Morocco Fac Med & Pharm Rabat, Rabat, MoroccoChafai Elalaoui, Siham论文数: 0 引用数: 0 h-index: 0机构: Fac Med & Pharm Rabat, Rabat, Morocco Natl Inst Hyg, Med Genet, Rabat, Morocco Fac Med & Pharm Rabat, Rabat, MoroccoZerkaoui, Maria论文数: 0 引用数: 0 h-index: 0机构: Fac Med & Pharm Rabat, Rabat, MoroccoChiguer, Amal论文数: 0 引用数: 0 h-index: 0机构: Fac Med & Pharm Rabat, Rabat, Morocco Natl Inst Hyg, Med Genet, Rabat, Morocco Fac Med & Pharm Rabat, Rabat, MoroccoAfif, Lamia论文数: 0 引用数: 0 h-index: 0机构: Fac Med & Pharm Rabat, Rabat, Morocco Natl Inst Hyg, Med Genet, Rabat, Morocco Fac Med & Pharm Rabat, Rabat, MoroccoThimou Izgua, Amal论文数: 0 引用数: 0 h-index: 0机构: Chu Ibn Sina, Ctr Consultat & External Explorat, Rabat, Morocco Fac Med & Pharm Rabat, Rabat, MoroccoSefiani, Abdelaziz论文数: 0 引用数: 0 h-index: 0机构: Fac Med & Pharm Rabat, Rabat, Morocco Natl Inst Hyg, Med Genet, Rabat, Morocco Fac Med & Pharm Rabat, Rabat, MoroccoJaber, Lyahyai论文数: 0 引用数: 0 h-index: 0机构: Fac Med & Pharm Rabat, Rabat, Morocco Natl Inst Hyg, Med Genet, Rabat, Morocco Fac Med & Pharm Rabat, Rabat, Morocco
- [45] ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2024, 32 : 323 - 324Awamleh, Zain论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genome Biol, Toronto, ON, CanadaChoufani, Sanaa论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genome Biol, Toronto, ON, CanadaCytrynbaum, Cheryl论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin Metab Genet, Toronto, ON, Canada Hosp Sick Children, Genet & Genome Biol, Toronto, ON, CanadaAlkuraya, Fowzan论文数: 0 引用数: 0 h-index: 0机构: King Faisal Specialist Hosp & Res Ctr, Dept Translat Gen, Riyadh, Saudi Arabia Hosp Sick Children, Genet & Genome Biol, Toronto, ON, CanadaScherer, Stephen论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genome Biol, Toronto, ON, CanadaFernandes, Sofia论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra, Med Genet Unit, Coimbra, Portugal Hosp Sick Children, Genet & Genome Biol, Toronto, ON, CanadaRosas, Catarina Silva论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra, Med Genet Unit, Coimbra, Portugal Hosp Sick Children, Genet & Genome Biol, Toronto, ON, CanadaLouro, Pedro论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra, Med Genet Unit, Coimbra, Portugal Hosp Sick Children, Genet & Genome Biol, Toronto, ON, CanadaDias, Patricia论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Lisboa Norte, Serv Genet Med, Lisbon, Portugal Hosp Sick Children, Genet & Genome Biol, Toronto, ON, CanadaNeves, Mariana论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp Lisboa Norte, Serv Genet Med, Lisbon, Portugal Hosp Sick Children, Genet & Genome Biol, Toronto, ON, CanadaSousa, Sergio论文数: 0 引用数: 0 h-index: 0机构: Ctr Hosp & Univ Coimbra, Med Genet Unit, Coimbra, Portugal Hosp Sick Children, Genet & Genome Biol, Toronto, ON, CanadaWeksberg, Rosanna论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genome Biol, Toronto, ON, Canada
- [46] Clinical Features, Diagnostic Criteria, and Management of Coffin-Siris SyndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS, 2014, 166 (03) : 252 - 256Vergano, Samantha S.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Kings Daughters, Div Med Genet & Metab, Norfolk, VA USA Eastern Virginia Med Sch, Norfolk, VA 23501 USA Childrens Hosp Kings Daughters, Div Med Genet & Metab, Norfolk, VA USADeardorff, Matthew A.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA Childrens Hosp Kings Daughters, Div Med Genet & Metab, Norfolk, VA USA
- [47] A De Novo Deletion at 16q24.3 Involving ANKRD11 in a Japanese Patient With KBG SyndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (05) : 1073 - 1077Miyatake, Satoko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanMurakami, Akira论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanOkamoto, Nobuhiko论文数: 0 引用数: 0 h-index: 0机构: Osaka Med Ctr, Dept Med Genet, Osaka, Japan Res Inst Maternal & Child Hlth, Osaka, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanSakamoto, Michiko论文数: 0 引用数: 0 h-index: 0机构: Takarazuka Municipal Ctr Handicapped Children, Takarazuka, Hyogo, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, JapanMiyake, Noriko论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan论文数: 引用数: h-index:机构:Matsumoto, Naomichi论文数: 0 引用数: 0 h-index: 0机构: Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan Yokohama City Univ, Dept Human Genet, Grad Sch Med, Yokohama, Kanagawa 2360004, Japan
- [48] Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS plus phenotypic spectrum: a case reportBMC MEDICAL GENETICS, 2019, 20Alves, Rita Maria论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, Brazil Res Grp Epi Genet, Salvador, BA, Brazil Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, BrazilUva, Paolo论文数: 0 引用数: 0 h-index: 0机构: Ctr Adv Studies Res & Dev Sardinia CRS4, Sci & Technol Pk Polaris, Pula, Italy Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, BrazilVeiga, Marielza F.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, Brazil Univ Fed Bahia, Univ Hosp Complex Prof Edgard Santos C HUPES, EEG Serv, Salvador, BA, Brazil Univ Fed Bahia, Univ Hosp Complex Prof Edgard Santos C HUPES, Clin Outpatient Epilepsy, Salvador, BA, Brazil Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, BrazilOppo, Manuela论文数: 0 引用数: 0 h-index: 0机构: Univ Sassari, Dept Biomed Sci, Sassari, Italy Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, BrazilZschaber, Fabiana C. R.论文数: 0 引用数: 0 h-index: 0机构: Res Grp Epi Genet, Salvador, BA, Brazil Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, BrazilPorcu, Giampiero论文数: 0 引用数: 0 h-index: 0机构: Res Grp Epi Genet, Salvador, BA, Brazil Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, BrazilPorto, Henrique P.论文数: 0 引用数: 0 h-index: 0机构: Res Grp Epi Genet, Salvador, BA, Brazil Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, BrazilPersico, Ivana论文数: 0 引用数: 0 h-index: 0机构: Cittadella Univ Cagliari, Inst Genet & Biomed Res, Natl Res Council CNR, I-09042 Cagliari, Italy Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, Brazil论文数: 引用数: h-index:机构:Cuccuru, Gianmauro论文数: 0 引用数: 0 h-index: 0机构: Ctr Adv Studies Res & Dev Sardinia CRS4, Sci & Technol Pk Polaris, Pula, Italy Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, BrazilAtzeni, Rossano论文数: 0 引用数: 0 h-index: 0机构: Ctr Adv Studies Res & Dev Sardinia CRS4, Sci & Technol Pk Polaris, Pula, Italy Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, BrazilVieira, Lauro C. N.论文数: 0 引用数: 0 h-index: 0机构: Clin Ponto Alto Diagnost Image, Salvador, BA, Brazil Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, BrazilPires, Marcos V. A.论文数: 0 引用数: 0 h-index: 0机构: Res Grp Epi Genet, Salvador, BA, Brazil ABC, Fac Med, Sao Paulo, Brazil Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, BrazilCucca, Francesco论文数: 0 引用数: 0 h-index: 0机构: Univ Sassari, Dept Biomed Sci, Sassari, Italy Cittadella Univ Cagliari, Inst Genet & Biomed Res, Natl Res Council CNR, I-09042 Cagliari, Italy Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, BrazilToralles, Maria Betania P.论文数: 0 引用数: 0 h-index: 0机构: Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, Brazil Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, BrazilAngius, Andrea论文数: 0 引用数: 0 h-index: 0机构: Univ Sassari, Dept Biomed Sci, Sassari, Italy Cittadella Univ Cagliari, Inst Genet & Biomed Res, Natl Res Council CNR, I-09042 Cagliari, Italy Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, BrazilCrisponi, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Sassari, Dept Biomed Sci, Sassari, Italy Cittadella Univ Cagliari, Inst Genet & Biomed Res, Natl Res Council CNR, I-09042 Cagliari, Italy Univ Fed Bahia, Postgrad Program Interact Proc Organs & Syst, Salvador, BA, Brazil
- [49] Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing lossAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (01) : 183 - 189Wang, Qiuquan论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Chinese PLA Med Sch, Beijing, Peoples R China Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China Minist Educ, State Key Lab Hearing Sci, Beijing, Peoples R China Beijing Key Lab Hearing Loss Prevent & Treatment, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Chinese PLA Med Sch, Beijing, Peoples R ChinaWu, Jie论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Chinese PLA Med Sch, Beijing, Peoples R China Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China Minist Educ, State Key Lab Hearing Sci, Beijing, Peoples R China Beijing Key Lab Hearing Loss Prevent & Treatment, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Chinese PLA Med Sch, Beijing, Peoples R ChinaYang, Jinyuan论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Chinese PLA Med Sch, Beijing, Peoples R China Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China Minist Educ, State Key Lab Hearing Sci, Beijing, Peoples R China Beijing Key Lab Hearing Loss Prevent & Treatment, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Chinese PLA Med Sch, Beijing, Peoples R ChinaHuang, Shasha论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Chinese PLA Med Sch, Beijing, Peoples R China Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China Minist Educ, State Key Lab Hearing Sci, Beijing, Peoples R China Beijing Key Lab Hearing Loss Prevent & Treatment, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Chinese PLA Med Sch, Beijing, Peoples R ChinaYuan, Yongyi论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Chinese PLA Med Sch, Beijing, Peoples R China Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China Minist Educ, State Key Lab Hearing Sci, Beijing, Peoples R China Beijing Key Lab Hearing Loss Prevent & Treatment, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Chinese PLA Med Sch, Beijing, Peoples R ChinaDai, Pu论文数: 0 引用数: 0 h-index: 0机构: Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Chinese PLA Med Sch, Beijing, Peoples R China Natl Clin Res Ctr Otolaryngol Dis, Beijing, Peoples R China Minist Educ, State Key Lab Hearing Sci, Beijing, Peoples R China Beijing Key Lab Hearing Loss Prevent & Treatment, Beijing, Peoples R China Chinese Peoples Liberat Army Gen Hosp, Coll Otolaryngol Head & Neck Surg, Chinese PLA Med Sch, Beijing, Peoples R China
- [50] Partial deletion of ANKRD11 results in the KBG phenotype distinct from the 16q24.3 microdeletion syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (04) : 835 - 840Khalifa, Mohamed论文数: 0 引用数: 0 h-index: 0机构: Akron Childrens Hosp, Dept Genet, Akron, OH USA Akron Childrens Hosp, Dept Genet, Akron, OH USAStein, Jennifer论文数: 0 引用数: 0 h-index: 0机构: Akron Childrens Hosp, Dept Genet, Akron, OH USA Akron Childrens Hosp, Dept Genet, Akron, OH USAGrau, Lance论文数: 0 引用数: 0 h-index: 0机构: Akron Childrens Hosp, Dept Genet, Akron, OH USA Akron Childrens Hosp, Dept Genet, Akron, OH USANelson, Valery论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Akron Childrens Hosp, Dept Genet, Akron, OH USAMeck, Jeanne论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Akron Childrens Hosp, Dept Genet, Akron, OH USAAradhya, Swaroop论文数: 0 引用数: 0 h-index: 0机构: GeneDx, Gaithersburg, MD USA Akron Childrens Hosp, Dept Genet, Akron, OH USADuby, John论文数: 0 引用数: 0 h-index: 0机构: Akron Childrens Hosp, Akron, OH USA Akron Childrens Hosp, Dept Genet, Akron, OH USA