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- [31] Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndromeEUROPEAN JOURNAL OF MEDICAL GENETICS, 2010, 53 (05) : 280 - 285Wessels, Kathrin论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Human Genet, D-30625 Hannover, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanyBohnhorst, Bettina论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Clin Paediat Pneumol & Neonatol, D-3000 Hannover, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanyLuhmer, Ingrid论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Clin Paediat Cardiol & Internal Med, D-3000 Hannover, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanyMorlot, Susanne论文数: 0 引用数: 0 h-index: 0机构: MVZ Wagnerstibbe, Hannover, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanyBohring, Axel论文数: 0 引用数: 0 h-index: 0机构: Westphalian Wilhelms Univ, Inst Human Genet, Munster, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanyJonasson, Jon论文数: 0 引用数: 0 h-index: 0机构: Linkoping Univ, Linkoping, Sweden Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanyEpplen, Joerg T.论文数: 0 引用数: 0 h-index: 0机构: Ruhr Univ Bochum, Dept Human Genet, Bochum, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanyGadzicki, Dorothea论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Cell & Mol Pathol, Hannover, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanyGlaser, Stefanie论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Cell & Mol Pathol, Hannover, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanyGoehring, Gudrun论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Cell & Mol Pathol, Hannover, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanyMaelzer, Madeleine论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Human Genet, D-30625 Hannover, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanyHein, Anke论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Human Genet, D-30625 Hannover, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanyArslan-Kirchner, Mine论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Human Genet, D-30625 Hannover, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanyStuhrmann, Manfred论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Human Genet, D-30625 Hannover, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanySchmidtke, Joerg论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Human Genet, D-30625 Hannover, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, GermanyPabst, Brigitte论文数: 0 引用数: 0 h-index: 0机构: Hannover Med Sch, Inst Human Genet, D-30625 Hannover, Germany Hannover Med Sch, Inst Human Genet, D-30625 Hannover, Germany
- [32] Investigating The Effect Of Patient Missense Variants In CHD7 Using An Induced Pluripotent Stem Cell ModelCIRCULATION RESEARCH, 2023, 133Sharma, Ananya论文数: 0 引用数: 0 h-index: 0Zhang, Qi论文数: 0 引用数: 0 h-index: 0Morton, Sarah U.论文数: 0 引用数: 0 h-index: 0Seidman, Jonathan G.论文数: 0 引用数: 0 h-index: 0Seidman, Christine E.论文数: 0 引用数: 0 h-index: 0
- [33] A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case reportBMC Endocrine Disorders, 21Weiwei Xu论文数: 0 引用数: 0 h-index: 0机构: First Affiliated Hospital,Department of Endocrinology and MetabolismWeibin Zhou论文数: 0 引用数: 0 h-index: 0机构: First Affiliated Hospital,Department of Endocrinology and MetabolismHaiyang Lin论文数: 0 引用数: 0 h-index: 0机构: First Affiliated Hospital,Department of Endocrinology and MetabolismDan Ye论文数: 0 引用数: 0 h-index: 0机构: First Affiliated Hospital,Department of Endocrinology and MetabolismGuoping Chen论文数: 0 引用数: 0 h-index: 0机构: First Affiliated Hospital,Department of Endocrinology and MetabolismFengqin Dong论文数: 0 引用数: 0 h-index: 0机构: First Affiliated Hospital,Department of Endocrinology and MetabolismJianguo Shen论文数: 0 引用数: 0 h-index: 0机构: First Affiliated Hospital,Department of Endocrinology and Metabolism
- [34] An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and DevelopmentNEUROSCIENCE BULLETIN, 2021, 37 (08) : 1091 - 1106Zhang, Ran论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R China Shanghai Ctr Brain Sci & Brain Inspired Intellige, Shanghai 201210, Peoples R China Univ Chinese Acad Sci, Beijing 100049, Peoples R China Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R ChinaHe, Hui论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R China Shanghai Ctr Brain Sci & Brain Inspired Intellige, Shanghai 201210, Peoples R China Univ Chinese Acad Sci, Beijing 100049, Peoples R China Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R ChinaYuan, Bo论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R China Shanghai Ctr Brain Sci & Brain Inspired Intellige, Shanghai 201210, Peoples R China Univ Chinese Acad Sci, Beijing 100049, Peoples R China Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R ChinaWu, Ziyan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R China Shanghai Ctr Brain Sci & Brain Inspired Intellige, Shanghai 201210, Peoples R China Univ Chinese Acad Sci, Beijing 100049, Peoples R China Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R ChinaWang, Xiuzhen论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R China Shanghai Ctr Brain Sci & Brain Inspired Intellige, Shanghai 201210, Peoples R China Univ Chinese Acad Sci, Beijing 100049, Peoples R China Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R ChinaDu, Yasong论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Mental Hlth Ctr, Sch Med, Shanghai 200030, Peoples R China Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R ChinaChen, Yuejun论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R China Shanghai Ctr Brain Sci & Brain Inspired Intellige, Shanghai 201210, Peoples R China Univ Chinese Acad Sci, Beijing 100049, Peoples R China Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R ChinaQiu, Zilong论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R China Shanghai Ctr Brain Sci & Brain Inspired Intellige, Shanghai 201210, Peoples R China Univ Chinese Acad Sci, Beijing 100049, Peoples R China Chinese Acad Sci, Ctr Excellence Brain Sci & Intelligence Technol, Inst Neurosci, State Key Lab Neurosci,Key Lab Primate Neurobiol, Shanghai 200031, Peoples R China
- [35] The Results of CHD7 Analysis in Clinically Well-Characterized Patients with Kallmann SyndromeJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2012, 97 (05): : E858 - E862Bergman, Jorieke E. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlandsde Ronde, Willem论文数: 0 引用数: 0 h-index: 0机构: Kennemer Gasthuis, Dept Internal Med, NL-2000 AK Haarlem, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, NetherlandsJongmans, Marjolijn C. J.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, NetherlandsWolffenbuttel, Bruce H. R.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Endocrinol, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, NetherlandsDrop, Sten L. S.论文数: 0 引用数: 0 h-index: 0机构: Erasmus MC, Dept Endocrinol, NL-3000 CA Rotterdam, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, NetherlandsHermus, Ad论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Endocrinol, NL-6525 GA Nijmegen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, NetherlandsBocca, Gianni论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Pediat Endocrinol, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, NetherlandsHoefsloot, Lies H.论文数: 0 引用数: 0 h-index: 0机构: Radboud Univ Nijmegen Med Ctr, Dept Human Genet, NL-6525 GA Nijmegen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlandsvan Ravenswaaij-Arts, Conny M. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands Univ Groningen, Univ Med Ctr Groningen, Dept Genet, NL-9700 RB Groningen, Netherlands
- [36] Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotypeEUROPEAN JOURNAL OF MEDICAL GENETICS, 2009, 52 (04) : 271 - 272Wincent, Josephine论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp Solna, Dept Mol Med & Surg, S-17176 Stockholm, Sweden Karolinska Univ Hosp Solna, Dept Mol Med & Surg, S-17176 Stockholm, SwedenSchulze, Astrid论文数: 0 引用数: 0 h-index: 0机构: Childrens Univ Hosp, Dept Child Neurodisabil, S-22241 Lund, Sweden Karolinska Univ Hosp Solna, Dept Mol Med & Surg, S-17176 Stockholm, SwedenSchoumans, Jacqueline论文数: 0 引用数: 0 h-index: 0机构: Karolinska Univ Hosp Solna, Dept Mol Med & Surg, S-17176 Stockholm, Sweden Karolinska Univ Hosp Solna, Dept Mol Med & Surg, S-17176 Stockholm, Sweden
- [37] De novo Splice Site Mutation of the CHD7 Gene in a Chinese Patient with Typical CHARGE SyndromeORL-JOURNAL FOR OTO-RHINO-LARYNGOLOGY HEAD AND NECK SURGERY, 2022, 84 (05): : 417 - 424Wang, Shujuan论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaLin, Ying论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaLiang, Pengfei论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaLi, Qiong论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaLi, Wei论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaWang, Zhaoxia论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaWang, Jian论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaChen, Jun论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R ChinaZha, Dingjun论文数: 0 引用数: 0 h-index: 0机构: Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China Air Force Mil Med Univ, Xijing Hosp, Dept Otolaryngol & Head & Neck Surg, Xian, Peoples R China
- [38] Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteriaAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (02) : 344 - 354Hale, Caitlin L.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USANiederriter, Adrienne N.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Med Scientist Training Program, Ann Arbor, MI 48109 USA Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USAGreen, Glenn E.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Dept Otolaryngol, Ann Arbor, MI 48109 USA Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USAMartin, Donna M.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA Univ Michigan, Sch Med, Med Scientist Training Program, Ann Arbor, MI 48109 USA Univ Michigan, Sch Med, Dept Pediat & Communicable Dis, 3520A MSRBI,1150 Med Ctr Dr,SPC 5652, Ann Arbor, MI 48109 USA Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA
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- [40] An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and DevelopmentNeuroscience Bulletin, 2021, 37 : 1091 - 1106Ran Zhang论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Sciences,Institute of Neuroscience, State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, Center for Excellence in Brain Science and Intelligence TechnologyHui He论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Sciences,Institute of Neuroscience, State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, Center for Excellence in Brain Science and Intelligence TechnologyBo Yuan论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Sciences,Institute of Neuroscience, State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, Center for Excellence in Brain Science and Intelligence TechnologyZiyan Wu论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Sciences,Institute of Neuroscience, State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, Center for Excellence in Brain Science and Intelligence TechnologyXiuzhen Wang论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Sciences,Institute of Neuroscience, State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, Center for Excellence in Brain Science and Intelligence TechnologyYasong Du论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Sciences,Institute of Neuroscience, State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, Center for Excellence in Brain Science and Intelligence TechnologyYuejun Chen论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Sciences,Institute of Neuroscience, State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, Center for Excellence in Brain Science and Intelligence TechnologyZilong Qiu论文数: 0 引用数: 0 h-index: 0机构: Chinese Academy of Sciences,Institute of Neuroscience, State Key Laboratory of Neuroscience, Key Laboratory of Primate Neurobiology, Center for Excellence in Brain Science and Intelligence Technology