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- [21] Whole exome sequencing reveals novel EYS mutations in Chinese patients with autosomal recessive retinitis pigmentosaMOLECULAR VISION, 2019, 25 : 35 - 46Xiao, Xiaoqiang论文数: 0 引用数: 0 h-index: 0机构: Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R China Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R ChinaCao, Yingjie论文数: 0 引用数: 0 h-index: 0机构: Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R China Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R ChinaChen, Shaowan论文数: 0 引用数: 0 h-index: 0机构: Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R China Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R ChinaChen, Min论文数: 0 引用数: 0 h-index: 0机构: Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R China Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R ChinaMai, Xiaoting论文数: 0 引用数: 0 h-index: 0机构: Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R China Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R ChinaZheng, Yuqian论文数: 0 引用数: 0 h-index: 0机构: Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R China Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R ChinaZhuang, Xi论文数: 0 引用数: 0 h-index: 0机构: Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R China Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R ChinaNg, Tsz Kin论文数: 0 引用数: 0 h-index: 0机构: Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R China Shantou Univ, Med Coll, Shantou, Guangdong, Peoples R China Chinese Univ Hong Kong, Dept Ophthalmol & Visual Sci, Hong Kong, Peoples R China Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R ChinaChen, Haoyu论文数: 0 引用数: 0 h-index: 0机构: Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R China Joint Shantou Int Eye Ctr Shantou Univ & Chinese, North Dongxia Rd, Shantou 515041, Guangdong, Peoples R China
- [22] Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndromeMOLECULAR GENETICS & GENOMIC MEDICINE, 2019, 7 (12):Luo, Minna论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Family Planning, Beijing, Peoples R China Natl Human Genet Resources Ctr, Beijing, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaCao, Li论文数: 0 引用数: 0 h-index: 0机构: Sichuan Prov Hosp Women & Children, Child Early Dev Ctr, Child Healthcare Dept, Chengdu, Sichuan, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaCao, Zongfu论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Family Planning, Beijing, Peoples R China Natl Human Genet Resources Ctr, Beijing, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaMa, Siyu论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Family Planning, Beijing, Peoples R China Peking Union Med Coll, Grad Sch, Beijing, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaShen, Yue论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Family Planning, Beijing, Peoples R China Natl Human Genet Resources Ctr, Beijing, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaYang, Di论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Chinese Minist Educ, Dept Pathophysiol, Key Lab Cell Differentiat & Apoptosis,Sch Med, Shanghai, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaLu, Chao论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Family Planning, Beijing, Peoples R China Natl Human Genet Resources Ctr, Beijing, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaLin, Zaisheng论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Chinese Minist Educ, Dept Pathophysiol, Key Lab Cell Differentiat & Apoptosis,Sch Med, Shanghai, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaLiu, Zhimin论文数: 0 引用数: 0 h-index: 0机构: Capital Med Univ, Beijing Childrens Hosp, Natl Ctr Childrens Hlth, Dept Radiol, Beijing, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaYu, Yufei论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Family Planning, Beijing, Peoples R China Natl Human Genet Resources Ctr, Beijing, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaCai, Ruikun论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Family Planning, Beijing, Peoples R China Natl Human Genet Resources Ctr, Beijing, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaChen, Cuixia论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Family Planning, Beijing, Peoples R China Natl Human Genet Resources Ctr, Beijing, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaGao, Huafeng论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Family Planning, Beijing, Peoples R China Natl Human Genet Resources Ctr, Beijing, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaWang, Xueyan论文数: 0 引用数: 0 h-index: 0机构: Sichuan Prov Hosp Women & Children, Dept Prenatal Diag, Chengdu, Sichuan, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaCao, Muqing论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Chinese Minist Educ, Dept Pathophysiol, Key Lab Cell Differentiat & Apoptosis,Sch Med, Shanghai, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R ChinaMa, Xu论文数: 0 引用数: 0 h-index: 0机构: Natl Res Inst Family Planning, Beijing, Peoples R China Natl Human Genet Resources Ctr, Beijing, Peoples R China Natl Res Inst Family Planning, Beijing, Peoples R China
- [23] Novel compound heterozygous mutations in the PEX1 gene in two Chinese newborns with Zellweger syndrome based on whole exome sequencingCLINICA CHIMICA ACTA, 2017, 470 : 24 - 28Ge, Meng-Meng论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R ChinaHu, LiYuan论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R ChinaLi, ZhiHua论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R ChinaCheng, GuoQiang论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R ChinaYan, Kai论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R ChinaKong, YanTing论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R ChinaWang, HuiJun论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Birth Defect Lab, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R ChinaYang, Lin论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Clin Genet Ctr, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R ChinaZhou, WenHao论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R China Fudan Univ, Childrens Hosp, Birth Defect Lab, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Dept Neonates, 399 Wan Yuan Rd, Shanghai 201102, Peoples R China
- [24] Identification of two novel TPK1 gene mutations in a Chinese patient with thiamine pyrophosphokinase deficiency undergoing whole exome sequencingJOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2019, 32 (03): : 295 - 300Zhu, Lina论文数: 0 引用数: 0 h-index: 0机构: Peoples Liberat Army Gen Hosp, Med Ctr 7, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Med Ctr 7, Dept Neurol & Dev, Beijing, Peoples R ChinaWu, Ruijuan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Baize Med Lab, Shanghai, Peoples R China Peoples Liberat Army Gen Hosp, Med Ctr 7, Dept Neurol & Dev, Beijing, Peoples R ChinaYe, Zhenlong论文数: 0 引用数: 0 h-index: 0机构: Shanghai Baize Med Lab, Shanghai, Peoples R China Peoples Liberat Army Gen Hosp, Med Ctr 7, Dept Neurol & Dev, Beijing, Peoples R ChinaGu, Ruijie论文数: 0 引用数: 0 h-index: 0机构: Peoples Liberat Army Gen Hosp, Med Ctr 7, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Med Ctr 7, Dept Neurol & Dev, Beijing, Peoples R ChinaWang, Yongxia论文数: 0 引用数: 0 h-index: 0机构: Peoples Liberat Army Gen Hosp, Med Ctr 7, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Med Ctr 7, Dept Neurol & Dev, Beijing, Peoples R ChinaHou, Yu论文数: 0 引用数: 0 h-index: 0机构: Peoples Liberat Army Gen Hosp, Med Ctr 7, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Med Ctr 7, Dept Neurol & Dev, Beijing, Peoples R ChinaFeng, Zhichun论文数: 0 引用数: 0 h-index: 0机构: Peoples Liberat Army Gen Hosp, Med Ctr 7, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Med Ctr 7, Dept Neurol & Dev, Beijing, Peoples R ChinaMa, Xiuwei论文数: 0 引用数: 0 h-index: 0机构: Peoples Liberat Army Gen Hosp, Med Ctr 7, Dept Neurol & Dev, Beijing, Peoples R China Peoples Liberat Army Gen Hosp, Med Ctr 7, Dept Neurol & Dev, Beijing, Peoples R China
- [25] Exome sequencing analysis reveals two novel mutations in TTC37 in Chinese patients with Crohn's diseaseQJM-AN INTERNATIONAL JOURNAL OF MEDICINE, 2024, 117 (02) : 145 - 147Zhang, Y.论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Gastroenterol, Changsha, Peoples R China Cent South Univ, Hunan Key Lab Organ Fibrosis, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Gastroenterol, Changsha, Peoples R ChinaYang, X.论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Gastroenterol, Changsha, Peoples R China Cent South Univ, Hunan Key Lab Organ Fibrosis, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Gastroenterol, Changsha, Peoples R ChinaGuo, S.论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Sch Life Sci, Dept Cell Biol, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Gastroenterol, Changsha, Peoples R ChinaTao, L.论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Gastroenterol, Changsha, Peoples R China Cent South Univ, Hunan Key Lab Organ Fibrosis, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Gastroenterol, Changsha, Peoples R ChinaXiang, R.论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Hunan Key Lab Organ Fibrosis, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Dept Cell Biol, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Gastroenterol, Changsha, Peoples R ChinaHuang, H.论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Hunan Key Lab Organ Fibrosis, Changsha, Peoples R China Cent South Univ, Sch Life Sci, Dept Cell Biol, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Gastroenterol, Changsha, Peoples R ChinaYang, H.论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Gastroenterol, Changsha, Peoples R China Cent South Univ, Hunan Key Lab Organ Fibrosis, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Natl Clin Res Ctr Geriatr Disorders, Changsha, Peoples R China Cent South Univ, Xiangya Hosp, Dept Gastroenterol, Changsha 410008, Hunan, Peoples R China Cent South Univ, Xiangya Hosp, Dept Gastroenterol, Changsha, Peoples R China
- [26] Whole-exome sequencing analysis to identify novel potential pathogenetic NPC1 mutations in two Chinese families with Niemann-Pick disease type CNEUROLOGICAL SCIENCES, 2022, 43 (06) : 3957 - 3966Guan, Chengcheng论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Med Genet Dept, Affiliated Hosp, Qingdao, Peoples R China Qingdao Univ, Med Genet Dept, Affiliated Hosp, Qingdao, Peoples R ChinaGan, Xinhui论文数: 0 引用数: 0 h-index: 0机构: Zaozhuang Maternal & Child Hlth Hosp, Neonatal Dis Screening Dept, Zaozhuang, Peoples R China Qingdao Univ, Med Genet Dept, Affiliated Hosp, Qingdao, Peoples R ChinaYang, Chengqing论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Pediat Neurol Dept, Affiliated Hosp, Qingdao, Peoples R China Qingdao Univ, Med Genet Dept, Affiliated Hosp, Qingdao, Peoples R ChinaYi, Mingji论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Child Healthcare Dept, Affiliated Hosp, Qingdao, Peoples R China Qingdao Univ, Med Genet Dept, Affiliated Hosp, Qingdao, Peoples R ChinaZhang, Ying论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Neuroendocrine Pediat Dept, Affiliated Hosp, Qingdao, Peoples R China Qingdao Univ, Med Genet Dept, Affiliated Hosp, Qingdao, Peoples R ChinaLiu, Shiguo论文数: 0 引用数: 0 h-index: 0机构: Qingdao Univ, Med Genet Dept, Affiliated Hosp, Qingdao, Peoples R China Qingdao Univ, Med Genet Dept, Affiliated Hosp, Qingdao, Peoples R China
- [27] A novel GREB1L c.705G>T missense variant identified by whole-exome sequencing in a three-generation family with Mullerian and renal agenesis: a new candidate gene in Mayer-Rokitansky-Kuster-Hauser (MRKH) syndromeEUROPEAN JOURNAL OF HUMAN GENETICS, 2020, 28 (SUPPL 1) : 473 - 473论文数: 引用数: h-index:机构:Hojland, A. T.论文数: 0 引用数: 0 h-index: 0机构: Aalborg Univ Hosp, Aalborg, Denmark Aalborg Univ, Aalborg, Denmark Aalborg Univ Hosp, Aalborg, DenmarkLe, V. Q.论文数: 0 引用数: 0 h-index: 0机构: Aalborg Univ Hosp, Aalborg, Denmark Aalborg Univ Hosp, Aalborg, DenmarkErnst, A.论文数: 0 引用数: 0 h-index: 0机构: Aalborg Univ Hosp, Aalborg, Denmark Aalborg Univ Hosp, Aalborg, DenmarkOkkels, H.论文数: 0 引用数: 0 h-index: 0机构: Aalborg Univ Hosp, Aalborg, Denmark Aalborg Univ Hosp, Aalborg, DenmarkPetersen, A. C.论文数: 0 引用数: 0 h-index: 0机构: Aalborg Univ Hosp, Aalborg, Denmark Aalborg Univ Hosp, Aalborg, DenmarkPetersen, M. B.论文数: 0 引用数: 0 h-index: 0机构: Aalborg Univ Hosp, Aalborg, Denmark Aalborg Univ, Aalborg, Denmark Aalborg Univ Hosp, Aalborg, Denmark论文数: 引用数: h-index:机构:
- [28] Whole Exome Sequencing reveals novel biallelic UBE3B mutations in two unrelated patients with undiagnosed conditionEUROPEAN JOURNAL OF HUMAN GENETICS, 2019, 27 : 383 - 384Pagliazzi, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Med Genet Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, ItalyProvenzano, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Med Genet Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, ItalyPeluso, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Med Genet Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, ItalyBargiacchi, S.论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Univ Hosp, Med Genet Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, ItalyDella Monica, M.论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Univ Hosp, Med Genet Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, ItalyCarignani, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Med Genet Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, ItalyForzano, G.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Med Genet Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, ItalyCiabattoni, S.论文数: 0 引用数: 0 h-index: 0机构: Santa Maria Nuova Hosp, Med Genet Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, ItalyAgostini, E.论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Univ Hosp, Neonatal Intens Care Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, ItalyFiorini, P.论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Univ Hosp, Neonatal Intens Care Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, ItalyLa Barbera, A.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Med Genet Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, ItalyGuarducci, S.论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Univ Hosp, Med Genet Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, ItalyPantaleo, M.论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Univ Hosp, Med Genet Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, ItalyLucherini, B.论文数: 0 引用数: 0 h-index: 0机构: Meyer Childrens Univ Hosp, Med Genet Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, ItalyGiglio, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Florence, Meyer Childrens Univ Hosp, Med Genet Unit, Florence, Italy Univ Florence, Med Genet Unit, Florence, Italy
- [29] Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNSCURRENT ISSUES IN MOLECULAR BIOLOGY, 2023, 45 (07) : 5293 - 5304Pal, Margit论文数: 0 引用数: 0 h-index: 0机构: Univ Szeged, Dept Med Genet, H-6720 Szeged, Hungary Eotv Lorand Res Network, ELKH SZTE Funct Clin Genet Res Grp, H-6720 Szeged, Hungary Univ Szeged, Dept Med Genet, H-6720 Szeged, HungaryVetro, Eva论文数: 0 引用数: 0 h-index: 0机构: Univ Szeged, Dept Oral & Maxillofacial Surg, H-6725 Szeged, Hungary Univ Szeged, Dept Med Genet, H-6720 Szeged, HungaryNagy, Nikoletta论文数: 0 引用数: 0 h-index: 0机构: Univ Szeged, Dept Med Genet, H-6720 Szeged, Hungary Eotv Lorand Res Network, ELKH SZTE Funct Clin Genet Res Grp, H-6720 Szeged, Hungary Univ Szeged, Dept Med Genet, H-6720 Szeged, HungaryNagy, Dora论文数: 0 引用数: 0 h-index: 0机构: Univ Szeged, Dept Med Genet, H-6720 Szeged, Hungary Johannes Kepler Univ Linz, Kepler Univ Hosp Med, Inst Med Genet, Campus 4, A-4020 Linz, Austria Univ Szeged, Dept Med Genet, H-6720 Szeged, HungaryHorvath, Emese论文数: 0 引用数: 0 h-index: 0机构: Univ Szeged, Dept Med Genet, H-6720 Szeged, Hungary Univ Szeged, Dept Med Genet, H-6720 Szeged, HungaryBokor, Barbara Anna论文数: 0 引用数: 0 h-index: 0机构: Univ Szeged, Dept Med Genet, H-6720 Szeged, Hungary Univ Szeged, Dept Med Genet, H-6720 Szeged, HungaryVarga, Anita论文数: 0 引用数: 0 h-index: 0机构: Univ Szeged, Dept Dermatol & Allergol, H-6720 Szeged, Hungary Univ Szeged, Dept Med Genet, H-6720 Szeged, HungarySeres, Laszlo论文数: 0 引用数: 0 h-index: 0机构: Univ Szeged, Dept Oral & Maxillofacial Surg, H-6725 Szeged, Hungary Univ Szeged, Dept Med Genet, H-6720 Szeged, HungaryOlah, Judit论文数: 0 引用数: 0 h-index: 0机构: Univ Szeged, Dept Dermatol & Allergol, H-6720 Szeged, Hungary Univ Szeged, Dept Oncotherapy, H-6720 Szeged, Hungary Univ Szeged, Dept Med Genet, H-6720 Szeged, HungaryPiffko, Jozsef论文数: 0 引用数: 0 h-index: 0机构: Univ Szeged, Dept Oral & Maxillofacial Surg, H-6725 Szeged, Hungary Univ Szeged, Dept Med Genet, H-6720 Szeged, HungarySzell, Marta论文数: 0 引用数: 0 h-index: 0机构: Univ Szeged, Dept Med Genet, H-6720 Szeged, Hungary
- [30] Whole Exome Sequencing Identifies Two Novel Mutations in a Patient with UC Associated with PSC and SSACANADIAN JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, 2021, 2021Wu, Dong论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Gastroenterol, Beijing 100730, Peoples R China Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Ctr Rare Dis Res, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Gastroenterol, Beijing 100730, Peoples R ChinaChen, Dan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Gastroenterol, Beijing 100730, Peoples R China Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Gastroenterol, Beijing 100730, Peoples R ChinaShi, Wen论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Gastroenterol, Beijing 100730, Peoples R China Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Gastroenterol, Beijing 100730, Peoples R ChinaLiu, Wei论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Radiol, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Gastroenterol, Beijing 100730, Peoples R ChinaZhou, Weixun论文数: 0 引用数: 0 h-index: 0机构: Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Pathol, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Gastroenterol, Beijing 100730, Peoples R ChinaQian, Jiaming论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Gastroenterol, Beijing 100730, Peoples R China Peking Union Med Coll Hosp, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Dept Gastroenterol, Beijing 100730, Peoples R China