共 50 条
- [21] Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosisBLOOD, 2018, 132 (13) : 1455 - 1458Sinnema, Margje论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, NetherlandsSong, Daisheng论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA 19104 USA Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, NetherlandsGuan, Wei论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA 19104 USA Huazhong Univ Sci & Technol, Union Hosp, Dept Ultrasound, Tongji Med Coll, Wuhan, Hubei, Peoples R China Hubei Prov Key Lab Mol Imaging, Wuhan, Hubei, Peoples R China Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, NetherlandsJanssen, Johanna W. H.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, Netherlandsvan Wijk, Richard论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Utrecht, Dept Clin Chem & Hematol, Utrecht, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, NetherlandsNavalsky, Bradleigh E.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA 19104 USA Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, NetherlandsPeng, Kai论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA 19104 USA Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, NetherlandsDonker, Albertine E.论文数: 0 引用数: 0 h-index: 0机构: Maxima Med Ctr, Dept Pediat Hematol, Veldhoven, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, NetherlandsStegmann, Alexander P. A.论文数: 0 引用数: 0 h-index: 0机构: Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, Netherlands Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, NetherlandsLee, Frank S.论文数: 0 引用数: 0 h-index: 0机构: Univ Penn, Dept Pathol & Lab Med, Perelman Sch Med, Philadelphia, PA 19104 USA Maastricht Univ, Med Ctr, Dept Clin Genet, POB 5800, NL-6202 AZ Maastricht, Netherlands
- [22] Loss-of-Function Mutation in APC2 Causes Sotos Syndrome FeaturesCELL REPORTS, 2015, 10 (09): : 1585 - 1598Almuriekhi, Mariam论文数: 0 引用数: 0 h-index: 0机构: Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, Qatar Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, QatarShintani, Takafumi论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Basic Biol, Div Mol Neurobiol, Okazaki, Aichi 4448787, Japan Grad Univ Adv Studies SOKENDAI, Sch Life Sci, Okazaki, Aichi 4448787, Japan Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, QatarFahiminiya, Somayyeh论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Fac Med, Dept Human Genet, Montreal, PQ H3A 1B1, Canada McGill Univ, Montreal, PQ H3A 0G1, Canada Genome Quebec Innovat Ctr, Montreal, PQ H3A 0G1, Canada Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, QatarFujikawa, Akihiro论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Basic Biol, Div Mol Neurobiol, Okazaki, Aichi 4448787, Japan Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, QatarKuboyama, Kazuya论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Basic Biol, Div Mol Neurobiol, Okazaki, Aichi 4448787, Japan Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, QatarTakeuchi, Yasushi论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Basic Biol, Div Mol Neurobiol, Okazaki, Aichi 4448787, Japan Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, QatarNawaz, Zafar论文数: 0 引用数: 0 h-index: 0机构: Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, QatarNadaf, Javad论文数: 0 引用数: 0 h-index: 0机构: McGill Univ, Fac Med, Dept Human Genet, Montreal, PQ H3A 1B1, Canada McGill Univ, Montreal, PQ H3A 0G1, Canada Genome Quebec Innovat Ctr, Montreal, PQ H3A 0G1, Canada Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, QatarKamel, Hussein论文数: 0 引用数: 0 h-index: 0机构: Hamad Med Corp, Dept Radiol, Doha, Qatar Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, QatarKitam, Abu Khadija论文数: 0 引用数: 0 h-index: 0机构: Hamad Med Corp, Dept Lab Med & Pathol, Cytogenet & Mol Cytogenet Lab, Doha, Qatar Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, QatarSamiha, Zaineddin论文数: 0 引用数: 0 h-index: 0机构: Hamad Med Corp, Dept Lab Med & Pathol, Cytogenet & Mol Cytogenet Lab, Doha, Qatar Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, QatarMahmoud, Laila论文数: 0 引用数: 0 h-index: 0机构: Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, Qatar Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, QatarBen-Omran, Tawfeg论文数: 0 引用数: 0 h-index: 0机构: Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, Qatar Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, Qatar论文数: 引用数: h-index:机构:Noda, Masaharu论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Basic Biol, Div Mol Neurobiol, Okazaki, Aichi 4448787, Japan Grad Univ Adv Studies SOKENDAI, Sch Life Sci, Okazaki, Aichi 4448787, Japan Hamad Med Corp, Dept Pediat, Sect Clin & Metab Genet, Doha, Qatar
- [23] Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial PorokeratosisScientific Reports, 6Jiuxiang Wang论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyYing Liu论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyFei Liu论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyChangzheng Huang论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyShanshan Han论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyYuexia Lv论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyChun-Jie Liu论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologySu Zhang论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyYayun Qin论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyLei Ling论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyMeng Gao论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyShanshan Yu论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyChang Li论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyMi Huang论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyShengjie Liao论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyXuebin Hu论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyZhaojing Lu论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyXiliang Liu论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyTao Jiang论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyZhaohui Tang论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyHuiping Zhang论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyAn-Yuan Guo论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental BiologyMugen Liu论文数: 0 引用数: 0 h-index: 0机构: Key Laboratory of Molecular Biophysics of Ministry of Education,Department of Genetics and Developmental Biology
- [24] Loss-of-function Mutation in PMVK Causes Autosomal Dominant Disseminated Superficial PorokeratosisSCIENTIFIC REPORTS, 2016, 6Wang, Jiuxiang论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaLiu, Ying论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaLiu, Fei论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaHuang, Changzheng论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Dermatol, Union Hosp, Tongji Med Coll, Wuhan 430022, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaHan, Shanshan论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaLv, Yuexia论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaLiu, Chun-Jie论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Dept Bioinformat & Syst Biol, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaZhang, Su论文数: 0 引用数: 0 h-index: 0机构: Hubei Polytech Inst, Xiaogan 432000, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaQin, Yayun论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaLing, Lei论文数: 0 引用数: 0 h-index: 0机构: Chibi Peoples Hosp, Dept Dermatol, Xianning 537300, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaGao, Meng论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaYu, Shanshan论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaLi, Chang论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaHuang, Mi论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaLiao, Shengjie论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaHu, Xuebin论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaLu, Zhaojing论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaLiu, Xiliang论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaJiang, Tao论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaTang, Zhaohui论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaZhang, Huiping论文数: 0 引用数: 0 h-index: 0机构: Yale Univ, Sch Med, Dept Psychiat, Div Human Genet, 333 Cedar St, New Haven, CT 06511 USA Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaGuo, An-Yuan论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Coll Life Sci & Technol, Dept Bioinformat & Syst Biol, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R ChinaLiu, Mugen论文数: 0 引用数: 0 h-index: 0机构: Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China Huazhong Univ Sci & Technol, Dept Genet & Dev Biol, Coll Life Sci & Technol, Key Lab Mol Biophys,Minist Educ, Wuhan 430074, Hubei, Peoples R China
- [25] HAND2 loss-of-function mutation causes familial dilated cardiomyopathyEUROPEAN JOURNAL OF MEDICAL GENETICS, 2019, 62 (09)Liu, Hua论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R ChinaXu, Ying-Jia论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Peoples Hosp Shanghai 5, Dept Cardiol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R ChinaLi, Ruo-Gu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R ChinaWang, Zhang-Sheng论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Peoples Hosp Shanghai 5, Dept Cardiol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R ChinaZhang, Min论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R ChinaQu, Xin-Kai论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R ChinaQiao, Qi论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Peoples Hosp Shanghai 5, Dept Cardiol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R ChinaLi, Xiu-Mei论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Peoples Hosp Shanghai 5, Dept Cardiol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R ChinaDi, Ruo-Min论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Peoples Hosp Shanghai 5, Dept Cardiol, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R ChinaQiu, Xing-Biao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R China Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R ChinaYang, Yi-Qing论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Peoples Hosp Shanghai 5, Dept Cardiol, Shanghai, Peoples R China Fudan Univ, Peoples Hosp Shanghai 5, Dept Cardiovasc Res Lab, Shanghai 200240, Peoples R China Fudan Univ, Peoples Hosp Shanghai 5, Dept Cent Lab, Shanghai, Peoples R China Shanghai Jiao Tong Univ, Shanghai Chest Hosp, Dept Cardiol, 241 West Huaihai Rd, Shanghai 200030, Peoples R China
- [26] A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrinANNALS OF HEMATOLOGY, 2022, 101 (04) : 731 - 738Li, Shan论文数: 0 引用数: 0 h-index: 0机构: Lanzhou Univ, Sch Clin Med 1, Lanzhou, Gansu, Peoples R China Lanzhou Univ, Sch Clin Med 1, Lanzhou, Gansu, Peoples R ChinaGuo, Ping论文数: 0 引用数: 0 h-index: 0机构: Hexi Univ, Dept Obstet & Gynecol, Zhangye Peoples Hosp, Zhangye, Gansu, Peoples R China Lanzhou Univ, Sch Clin Med 1, Lanzhou, Gansu, Peoples R ChinaMi, Leyuan论文数: 0 引用数: 0 h-index: 0机构: Lanzhou Univ, Sch Clin Med 1, Lanzhou, Gansu, Peoples R China Gansu Prov Matern & Child Care Hosp, Clin Lab Ctr, Lanzhou, Gansu, Peoples R China Lanzhou Univ, Sch Clin Med 1, Lanzhou, Gansu, Peoples R ChinaChai, Xiaojing论文数: 0 引用数: 0 h-index: 0机构: Lanzhou Univ, Cent Lab, Hosp 1, 1 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China Lanzhou Univ, Sch Clin Med 1, Lanzhou, Gansu, Peoples R ChinaXi, Kewang论文数: 0 引用数: 0 h-index: 0机构: Lanzhou Univ, Sch Clin Med 1, Lanzhou, Gansu, Peoples R China Lanzhou Univ, Sch Clin Med 1, Lanzhou, Gansu, Peoples R ChinaLiu, Ting论文数: 0 引用数: 0 h-index: 0机构: Lanzhou Univ, Sch Clin Med 1, Lanzhou, Gansu, Peoples R China Lanzhou Univ, Sch Clin Med 1, Lanzhou, Gansu, Peoples R ChinaLu, Li论文数: 0 引用数: 0 h-index: 0机构: Lanzhou Univ, Cent Lab, Hosp 1, 1 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China Lanzhou Univ, Sch Clin Med 1, Lanzhou, Gansu, Peoples R ChinaLi, Juan论文数: 0 引用数: 0 h-index: 0机构: Lanzhou Univ, Cent Lab, Hosp 1, 1 Donggang West Rd, Lanzhou 730000, Gansu, Peoples R China Lanzhou Univ, Sch Clin Med 1, Lanzhou, Gansu, Peoples R China
- [27] A novel SPTB mutation causes hereditary spherocytosis via loss-of-function of β-spectrinAnnals of Hematology, 2022, 101 : 731 - 738Shan Li论文数: 0 引用数: 0 h-index: 0机构: Lanzhou University,The First School of Clinical MedicinePing Guo论文数: 0 引用数: 0 h-index: 0机构: Lanzhou University,The First School of Clinical MedicineLeyuan Mi论文数: 0 引用数: 0 h-index: 0机构: Lanzhou University,The First School of Clinical MedicineXiaojing Chai论文数: 0 引用数: 0 h-index: 0机构: Lanzhou University,The First School of Clinical MedicineKewang Xi论文数: 0 引用数: 0 h-index: 0机构: Lanzhou University,The First School of Clinical MedicineTing Liu论文数: 0 引用数: 0 h-index: 0机构: Lanzhou University,The First School of Clinical MedicineLi Lu论文数: 0 引用数: 0 h-index: 0机构: Lanzhou University,The First School of Clinical MedicineJuan Li论文数: 0 引用数: 0 h-index: 0机构: Lanzhou University,The First School of Clinical Medicine
- [28] A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disabilityMOLECULAR PSYCHIATRY, 2016, 21 (08) : 1125 - 1129Figueiredo, T.论文数: 0 引用数: 0 h-index: 0机构: Fed Univ Paraiba UFPB, Northeast Biotechnol Network RENORBIO, Joao Pessoa, Paraiba, Brazil Paraiba State Univ UEPB, Dept Biol, Campina Grande, Brazil Univ Sao Paulo, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Biosci Inst, Sao Paulo, Brazil Fed Univ Paraiba UFPB, Northeast Biotechnol Network RENORBIO, Joao Pessoa, Paraiba, BrazilMelo, U. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Biosci Inst, Sao Paulo, Brazil Fed Univ Paraiba UFPB, Northeast Biotechnol Network RENORBIO, Joao Pessoa, Paraiba, BrazilPessoa, A. L. S.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Med, Dept Neurol, Rua Dr Eneas Carvalho Aguiar,255-S 5040, BR-05403010 Sao Paulo, Brazil Fortaleza Univ UNIFOR, Sch Med, Fortaleza, Ceara, Brazil Fed Univ Paraiba UFPB, Northeast Biotechnol Network RENORBIO, Joao Pessoa, Paraiba, BrazilNobrega, P. R.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Med, Dept Neurol, Rua Dr Eneas Carvalho Aguiar,255-S 5040, BR-05403010 Sao Paulo, Brazil Fed Univ Paraiba UFPB, Northeast Biotechnol Network RENORBIO, Joao Pessoa, Paraiba, BrazilKitajima, J. P.论文数: 0 引用数: 0 h-index: 0机构: Mendel Genom Anal, Sao Paulo, Brazil Fed Univ Paraiba UFPB, Northeast Biotechnol Network RENORBIO, Joao Pessoa, Paraiba, BrazilRusch, H.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Chem, Lab Genet Metab Dis, Amsterdam, Netherlands Fed Univ Paraiba UFPB, Northeast Biotechnol Network RENORBIO, Joao Pessoa, Paraiba, BrazilVaz, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Amsterdam, Acad Med Ctr, Dept Clin Chem, Lab Genet Metab Dis, Amsterdam, Netherlands Fed Univ Paraiba UFPB, Northeast Biotechnol Network RENORBIO, Joao Pessoa, Paraiba, BrazilLucato, L. T.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Sch Med, Inst Radiol, Sao Paulo, Brazil Fed Univ Paraiba UFPB, Northeast Biotechnol Network RENORBIO, Joao Pessoa, Paraiba, BrazilZatz, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Biosci Inst, Sao Paulo, Brazil Fed Univ Paraiba UFPB, Northeast Biotechnol Network RENORBIO, Joao Pessoa, Paraiba, BrazilKok, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Sao Paulo, Dept Genet & Evolutionary Biol, Human Genome & Stem Cell Res Ctr, Biosci Inst, Sao Paulo, Brazil Univ Sao Paulo, Sch Med, Dept Neurol, Rua Dr Eneas Carvalho Aguiar,255-S 5040, BR-05403010 Sao Paulo, Brazil Mendel Genom Anal, Sao Paulo, Brazil Fed Univ Paraiba UFPB, Northeast Biotechnol Network RENORBIO, Joao Pessoa, Paraiba, BrazilSantos, S.论文数: 0 引用数: 0 h-index: 0机构: Fed Univ Paraiba UFPB, Northeast Biotechnol Network RENORBIO, Joao Pessoa, Paraiba, Brazil Paraiba State Univ UEPB, Dept Biol, Campina Grande, Brazil Fed Univ Paraiba UFPB, Northeast Biotechnol Network RENORBIO, Joao Pessoa, Paraiba, Brazil
- [29] A homozygous loss-of-function mutation in inositol monophosphatase 1 (IMPA1) causes severe intellectual disabilityMolecular Psychiatry, 2016, 21 : 1125 - 1129T Figueiredo论文数: 0 引用数: 0 h-index: 0机构: Northeast Biotechnology Network (RENORBIO),Department of BiologyU S Melo论文数: 0 引用数: 0 h-index: 0机构: Northeast Biotechnology Network (RENORBIO),Department of BiologyA L S Pessoa论文数: 0 引用数: 0 h-index: 0机构: Northeast Biotechnology Network (RENORBIO),Department of BiologyP R Nobrega论文数: 0 引用数: 0 h-index: 0机构: Northeast Biotechnology Network (RENORBIO),Department of BiologyJ P Kitajima论文数: 0 引用数: 0 h-index: 0机构: Northeast Biotechnology Network (RENORBIO),Department of BiologyH Rusch论文数: 0 引用数: 0 h-index: 0机构: Northeast Biotechnology Network (RENORBIO),Department of BiologyF Vaz论文数: 0 引用数: 0 h-index: 0机构: Northeast Biotechnology Network (RENORBIO),Department of BiologyL T Lucato论文数: 0 引用数: 0 h-index: 0机构: Northeast Biotechnology Network (RENORBIO),Department of BiologyM Zatz论文数: 0 引用数: 0 h-index: 0机构: Northeast Biotechnology Network (RENORBIO),Department of BiologyF Kok论文数: 0 引用数: 0 h-index: 0机构: Northeast Biotechnology Network (RENORBIO),Department of BiologyS Santos论文数: 0 引用数: 0 h-index: 0机构: Northeast Biotechnology Network (RENORBIO),Department of Biology
- [30] Loss-of-function mutation of the galanin gene is associated with perturbed islet function in miceENDOCRINOLOGY, 2004, 145 (07) : 3190 - 3196Ahrén, B论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Dept Med, Biomed Ctr B11, SE-22184 Lund, SwedenPacini, G论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Dept Med, Biomed Ctr B11, SE-22184 Lund, SwedenWynick, D论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Dept Med, Biomed Ctr B11, SE-22184 Lund, SwedenWierup, N论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Dept Med, Biomed Ctr B11, SE-22184 Lund, SwedenSundler, F论文数: 0 引用数: 0 h-index: 0机构: Lund Univ, Dept Med, Biomed Ctr B11, SE-22184 Lund, Sweden