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- [1] Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfectaOSTEOPOROSIS INTERNATIONAL, 2017, 28 (04) : 1473 - 1480Zhang, H.论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaYue, H.论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaWang, C.论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaGu, J.论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaHe, J.论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaFu, W.论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaHu, W.论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaZhang, Z.论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis,Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China
- [2] Novel mutations of the SERPINF1 and FKBP10 genes in Chinese families with autosomal recessive osteogenesis imperfectaINTERNATIONAL JOURNAL OF MOLECULAR MEDICINE, 2018, 41 (06) : 3662 - 3670Zhang, Hao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaXu, Yang论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaYue, Hua论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaWang, Chun论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaGu, Jiemei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaHe, Jinwei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaFu, Wenzhen论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaHu, Weiwei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaZhang, Zhenlin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Sixth Peoples Hosp, Shanghai Key Clin Ctr Metab Dis, Dept Osteoporosis & Bone Dis Metab Bone Dis & Gen, 600 Yishan Rd, Shanghai 200233, Peoples R China
- [3] Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis ImperfectaFRONTIERS IN GENETICS, 2020, 11Tang, Yen-An论文数: 0 引用数: 0 h-index: 0机构: Natl Cheng Kung Univ, Ctr Genom Med Res & Serv Headquarter, Tainan, Taiwan Natl Cheng Kung Univ, Inst Mol Med, Coll Med, Tainan, Taiwan Natl Cheng Kung Univ, Ctr Genom Med Res & Serv Headquarter, Tainan, TaiwanWang, Lin-Yen论文数: 0 引用数: 0 h-index: 0机构: Chi Mei Med Ctr, Div Hematol Oncol, Dept Pediat, Tainan, Taiwan Chia Nan Univ Pharm & Sci, Dept Childhood Educ & Nursery, Tainan, Taiwan Kaohsiung Med Univ, Sch Med, Coll Med, Kaohsiung, Taiwan Natl Cheng Kung Univ, Ctr Genom Med Res & Serv Headquarter, Tainan, TaiwanChang, Chiao-May论文数: 0 引用数: 0 h-index: 0机构: Natl Cheng Kung Univ, Ctr Genom Med Res & Serv Headquarter, Tainan, Taiwan Natl Cheng Kung Univ, Ctr Genom Med Res & Serv Headquarter, Tainan, TaiwanLee, I-Wen论文数: 0 引用数: 0 h-index: 0机构: FMC Fetal Med Ctr, Tainan, Taiwan Natl Cheng Kung Univ, Ctr Genom Med Res & Serv Headquarter, Tainan, TaiwanTsai, Wen-Hui论文数: 0 引用数: 0 h-index: 0机构: Chi Mei Med Ctr, Div Genet & Metab, Dept Pediat, Tainan, Taiwan Chang Jung Christian Univ, Grad Inst Med Sci, Coll Hlth Sci, Tainan, Taiwan Natl Cheng Kung Univ, Ctr Genom Med Res & Serv Headquarter, Tainan, TaiwanSun, H. Sunny论文数: 0 引用数: 0 h-index: 0机构: Natl Cheng Kung Univ, Ctr Genom Med Res & Serv Headquarter, Tainan, Taiwan Natl Cheng Kung Univ, Inst Mol Med, Coll Med, Tainan, Taiwan Natl Cheng Kung Univ, Ctr Genom Med Res & Serv Headquarter, Tainan, Taiwan
- [4] Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfectaMOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (06):Xi, Lei论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Shanghai Clin Res Ctr Bone Dis, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Shanghai Clin Res Ctr Bone Dis, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaLv, Shanshan论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Shanghai Clin Res Ctr Bone Dis, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Shanghai Clin Res Ctr Bone Dis, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaZhang, Hao论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Shanghai Clin Res Ctr Bone Dis, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Shanghai Clin Res Ctr Bone Dis, 600 Yishan Rd, Shanghai 200233, Peoples R ChinaZhang, Zhen-Lin论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Shanghai Clin Res Ctr Bone Dis, 600 Yishan Rd, Shanghai 200233, Peoples R China Shanghai Jiao Tong Univ, Affiliated Peoples Hosp 6, Dept Osteoporosis & Bone Dis, Shanghai Clin Res Ctr Bone Dis, 600 Yishan Rd, Shanghai 200233, Peoples R China
- [5] FAM46A mutations are responsible for autosomal recessive osteogenesis imperfectaJOURNAL OF MEDICAL GENETICS, 2018, 55 (04) : 278 - 284Doyard, Mathilde论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Dept Med Genet, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Inst Salud Carlos II, CIBERER, Madrid, SpainBacrot, Severine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Dept Med Genet, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Inst Salud Carlos II, CIBERER, Madrid, Spain论文数: 引用数: h-index:机构:Di Rocco, Maja论文数: 0 引用数: 0 h-index: 0机构: Giannina Gaslini Inst, Dept Pediat, Unit Rare Dis, Genoa, Italy Inst Salud Carlos II, CIBERER, Madrid, SpainGoldenberg, Alice论文数: 0 引用数: 0 h-index: 0机构: CHU Rouen, Dept Genet, Ctr Normand Genom Med & Med Personnalisee, Rouen, France Inst Salud Carlos II, CIBERER, Madrid, SpainAglan, Mona S.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Ctr Excellence Human Genet, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt Inst Salud Carlos II, CIBERER, Madrid, SpainBrunelle, Perrine论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Dept Med Genet, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Inst Salud Carlos II, CIBERER, Madrid, SpainTemtamy, Samia论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Ctr Excellence Human Genet, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt Inst Salud Carlos II, CIBERER, Madrid, Spain论文数: 引用数: h-index:机构:Otaify, Ghada A.论文数: 0 引用数: 0 h-index: 0机构: Natl Res Ctr, Ctr Excellence Human Genet, Dept Clin Genet, Human Genet & Genome Res Div, Cairo, Egypt Inst Salud Carlos II, CIBERER, Madrid, SpainHaudry, Coralie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Dept Med Genet, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Inst Salud Carlos II, CIBERER, Madrid, SpainCastanet, Mireille论文数: 0 引用数: 0 h-index: 0机构: CHU Rouen, Dept Pediat, Rouen, France Inst Salud Carlos II, CIBERER, Madrid, SpainLeroux, Julien论文数: 0 引用数: 0 h-index: 0机构: CHU Rouen, Dept Pediat Surg, Rouen, France Inst Salud Carlos II, CIBERER, Madrid, Spain论文数: 引用数: h-index:机构:Munnich, Arnold论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Dept Med Genet, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Inst Salud Carlos II, CIBERER, Madrid, SpainBaujat, Genevieve论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Dept Med Genet, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Inst Salud Carlos II, CIBERER, Madrid, SpainLapunzina, Pablo论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos II, CIBERER, Madrid, Spain Univ Autonoma Madrid, Hosp Univ La Paz IdiPaz, Inst Genet Med & Mol INGEMM, Madrid, Spain Inst Salud Carlos II, CIBERER, Madrid, SpainMonnot, Sophie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Dept Med Genet, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Inst Salud Carlos II, CIBERER, Madrid, SpainRuiz-Perez, Victor L.论文数: 0 引用数: 0 h-index: 0机构: Inst Salud Carlos II, CIBERER, Madrid, Spain Univ Autonoma Madrid, CSIC, Inst Invest Biomed Madrid, Madrid, Spain Inst Salud Carlos II, CIBERER, Madrid, SpainCormier-Daire, Valerie论文数: 0 引用数: 0 h-index: 0机构: Univ Paris 05, Dept Med Genet, Hop Necker Enfants Malad, INSERM U1163,Inst Imagine, Paris, France Inst Salud Carlos II, CIBERER, Madrid, Spain
- [6] Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis ImperfectaFRONTIERS IN GENETICS, 2020, 11Li, Shan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R China Peking Union Med Coll, Sch Basic Med, Beijing, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaCao, Yixuan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R China Peking Union Med Coll, Sch Basic Med, Beijing, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaWang, Han论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R China Peking Union Med Coll, Sch Basic Med, Beijing, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaLi, Lulu论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R China Peking Union Med Coll, Sch Basic Med, Beijing, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaRen, Xiuzhi论文数: 0 引用数: 0 h-index: 0机构: Peoples Hosp Wuqing Dist, Tianjin, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaMi, Huan论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R China Peking Union Med Coll, Sch Basic Med, Beijing, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaWang, Yanzhou论文数: 0 引用数: 0 h-index: 0机构: Shandong Univ, Shandong Prov Hosp, Jinan, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaGuan, Yun论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, Dept Anesthesiol & Crit Care Med, Baltimore, MD 21205 USA Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaZhao, Feiyue论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R China Peking Union Med Coll, Sch Basic Med, Beijing, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaMao, Bin论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R China Peking Union Med Coll, Sch Basic Med, Beijing, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaYang, Tao论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R China Peking Union Med Coll, Sch Basic Med, Beijing, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaYou, Yi论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R China Peking Union Med Coll, Sch Basic Med, Beijing, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaGuan, Xin论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R China Peking Union Med Coll, Sch Basic Med, Beijing, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaYang, Yujiao论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R China Peking Union Med Coll, Sch Basic Med, Beijing, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaZhang, Xue论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R China Peking Union Med Coll, Sch Basic Med, Beijing, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R ChinaZhao, Xiuli论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R China Peking Union Med Coll, Sch Basic Med, Beijing, Peoples R China Chinese Acad Med Sci, Inst Basic Med Sci, Dept Med Genet, Beijing, Peoples R China
- [7] Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patientEUROPEAN JOURNAL OF MEDICAL GENETICS, 2017, 60 (08) : 411 - 415Won, Joon Yeon论文数: 0 引用数: 0 h-index: 0机构: Sookmyung Womens Univ, Dept Biol Sci, 100 Cheongpa Ro 47 Gil, Seoul 04310, South Korea Sookmyung Womens Univ, Dept Biol Sci, 100 Cheongpa Ro 47 Gil, Seoul 04310, South KoreaJang, Woo Young论文数: 0 引用数: 0 h-index: 0机构: Korea Univ, Dept Orthopaed Surg, Anam Hosp, Seoul, South Korea Sookmyung Womens Univ, Dept Biol Sci, 100 Cheongpa Ro 47 Gil, Seoul 04310, South KoreaLee, Hye-Ran论文数: 0 引用数: 0 h-index: 0机构: Seoul Natl Univ, Div Pediat Orthopaed, Childrens Hosp, 28 Daehak Ro, Seoul 03080, South Korea Sookmyung Womens Univ, Dept Biol Sci, 100 Cheongpa Ro 47 Gil, Seoul 04310, South KoreaPark, Seon Young论文数: 0 引用数: 0 h-index: 0机构: Sookmyung Womens Univ, Dept Biol Sci, 100 Cheongpa Ro 47 Gil, Seoul 04310, South Korea Sookmyung Womens Univ, Dept Biol Sci, 100 Cheongpa Ro 47 Gil, Seoul 04310, South Korea论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:论文数: 引用数: h-index:机构:
- [8] Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese familiesMOLECULAR GENETICS & GENOMIC MEDICINE, 2022, 10 (04):Zhou, Cheng论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Dermatol, Peoples Hosp, Beijing 100044, Peoples R China Peking Univ, Dept Dermatol, Peoples Hosp, Beijing 100044, Peoples R ChinaWang, Pei论文数: 0 引用数: 0 h-index: 0机构: Guangdong Prov Peoples Hosp, Dept Dermatol, Guangzhou, Peoples R China Peking Univ, Dept Dermatol, Peoples Hosp, Beijing 100044, Peoples R ChinaYang, Dingquan论文数: 0 引用数: 0 h-index: 0机构: China Japan Friendship Hosp, Dept Dermatol, Beijing, Peoples R China Peking Univ, Dept Dermatol, Peoples Hosp, Beijing 100044, Peoples R ChinaLiao, Wenjun论文数: 0 引用数: 0 h-index: 0机构: Fourth Mil Med Univ, Xijing Hosp, Dept Dermatol, Xian, Peoples R China Peking Univ, Dept Dermatol, Peoples Hosp, Beijing 100044, Peoples R ChinaGuo, Qing论文数: 0 引用数: 0 h-index: 0机构: Sun Yat Sen Univ, Sun Yat Sen Mem Hosp, Dept Dermatol, Guangzhou, Peoples R China Peking Univ, Dept Dermatol, Peoples Hosp, Beijing 100044, Peoples R ChinaLi, Jiacheng论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Hosp 3, Beijing Adv Innovat Ctr Genom, Dept Obstet & Gynecol,Sch Life Sci, Beijing, Peoples R China Peking Univ, Dept Dermatol, Peoples Hosp, Beijing 100044, Peoples R ChinaWen, Guangdong论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Dermatol, Peoples Hosp, Beijing 100044, Peoples R China Peking Univ, Dept Dermatol, Peoples Hosp, Beijing 100044, Peoples R ChinaZheng, Shuying论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Electron Microscopy Lab, Peoples Hosp, Beijing, Peoples R China Peking Univ, Dept Dermatol, Peoples Hosp, Beijing 100044, Peoples R ChinaZhang, Xue论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med, State Key Lab Med Mol Biol,Inst Basic Med Sci,Sch, Beijing 100005, Peoples R China Peking Univ, Dept Dermatol, Peoples Hosp, Beijing 100044, Peoples R ChinaWang, Rongrong论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll, McKusick Zhang Ctr Genet Med, State Key Lab Med Mol Biol,Inst Basic Med Sci,Sch, Beijing 100005, Peoples R China Peking Univ, Dept Dermatol, Peoples Hosp, Beijing 100044, Peoples R ChinaZhang, Jianzhong论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Dept Dermatol, Peoples Hosp, Beijing 100044, Peoples R China Peking Univ, Dept Dermatol, Peoples Hosp, Beijing 100044, Peoples R China
- [9] Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type XOSTEOPOROSIS INTERNATIONAL, 2018, 29 (06) : 1389 - 1396Song, Y.论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R China Peking Union Med Coll, Shuaifuyuan 1, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R ChinaZhao, D.论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R China Peking Union Med Coll, Shuaifuyuan 1, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R ChinaXu, X.论文数: 0 引用数: 0 h-index: 0机构: Peking Univ, Clin Med Coll 4, Beijing Jishuitan Hosp, Dept Endocrinol, Beijing 100035, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R ChinaLv, F.论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R China Peking Union Med Coll, Shuaifuyuan 1, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R ChinaLi, L.论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R China Peking Union Med Coll, Shuaifuyuan 1, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R ChinaJiang, Y.论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R China Peking Union Med Coll, Shuaifuyuan 1, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R ChinaWang, O.论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R China Peking Union Med Coll, Shuaifuyuan 1, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R ChinaXia, W.论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R China Peking Union Med Coll, Shuaifuyuan 1, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R ChinaXing, X.论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R China Peking Union Med Coll, Shuaifuyuan 1, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R ChinaLi, M.论文数: 0 引用数: 0 h-index: 0机构: Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R China Peking Union Med Coll, Shuaifuyuan 1, Beijing 100730, Peoples R China Chinese Acad Med Sci, Peking Union Med Coll Hosp, Natl Hlth & Family Planning Commiss, Dept Endocrinol,Key Lab Endocrinol, Shuaifuyuan 1, Beijing 100730, Peoples R China
- [10] Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type XOsteoporosis International, 2018, 29 : 1389 - 1396Y. Song论文数: 0 引用数: 0 h-index: 0机构: Peking Union Medical College Hospital,Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning CommissionD. Zhao论文数: 0 引用数: 0 h-index: 0机构: Peking Union Medical College Hospital,Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning CommissionX. Xu论文数: 0 引用数: 0 h-index: 0机构: Peking Union Medical College Hospital,Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning CommissionF. Lv论文数: 0 引用数: 0 h-index: 0机构: Peking Union Medical College Hospital,Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning CommissionL. Li论文数: 0 引用数: 0 h-index: 0机构: Peking Union Medical College Hospital,Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning CommissionY. Jiang论文数: 0 引用数: 0 h-index: 0机构: Peking Union Medical College Hospital,Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning CommissionO. Wang论文数: 0 引用数: 0 h-index: 0机构: Peking Union Medical College Hospital,Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning CommissionW. Xia论文数: 0 引用数: 0 h-index: 0机构: Peking Union Medical College Hospital,Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning CommissionX. Xing论文数: 0 引用数: 0 h-index: 0机构: Peking Union Medical College Hospital,Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning CommissionM. Li论文数: 0 引用数: 0 h-index: 0机构: Peking Union Medical College Hospital,Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning Commission