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- [21] Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assaysNPJ GENOMIC MEDICINE, 2025, 10 (01)Chen, Fuying论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R ChinaWei, Ruoqu论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Dermatol, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R ChinaWang, Yumeng论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Dermatol, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R ChinaCao, Qiaoyu论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R ChinaWang, Jianbo论文数: 0 引用数: 0 h-index: 0机构: Henan Univ, Henan Prov Peoples Hosp, Peoples Hosp, Dept Dermatol, Zhengzhou, Peoples R China Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R ChinaWang, Chenfei论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R ChinaYao, Dingjin论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R ChinaYao, Zhirong论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Dermatol, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R ChinaNi, Cheng论文数: 0 引用数: 0 h-index: 0机构: Shanghai Jiao Tong Univ, Xinhua Hosp, Sch Med, Dept Dermatol, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R ChinaLi, Ming论文数: 0 引用数: 0 h-index: 0机构: Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R China Fudan Univ, Childrens Hosp, Natl Childrens Med Ctr, Dept Dermatol, Shanghai, Peoples R China
- [22] Novel BMP1, CRTAP, and SERPINF1 variants causing autosomal recessive osteogenesis imperfectaCLINICAL GENETICS, 2022, 102 (03) : 242 - 243Kuptanon, Chulaluck论文数: 0 引用数: 0 h-index: 0机构: Queen Sirikit Natl Inst Child Hlth, Dept Pediat, Bangkok, Thailand Rangsit Univ, Dept Pediat, Coll Med, Bangkok, Thailand Queen Sirikit Natl Inst Child Hlth, Dept Pediat, Bangkok, ThailandThamkunanon, Verasak论文数: 0 引用数: 0 h-index: 0机构: Queen Sirikit Natl Inst Child Hlth, Dept Orthoped, Bangkok, Thailand Queen Sirikit Natl Inst Child Hlth, Dept Pediat, Bangkok, ThailandSrichomthong, Chalurmpon论文数: 0 引用数: 0 h-index: 0机构: Chulalongkorn Univ, Dept Pediat, Ctr Excellence Med Genom, Fac Med, Bangkok, Thailand King Chulalongkorn Mem Hosp, Excellence Ctr Genom & Precis Med, Thai Red Cross Soc, Bangkok, Thailand Queen Sirikit Natl Inst Child Hlth, Dept Pediat, Bangkok, ThailandTheerapanon, Thanakorn论文数: 0 引用数: 0 h-index: 0机构: Queen Sirikit Natl Inst Child Hlth, Dept Pediat, Bangkok, ThailandSuphapeetiporn, Kanya论文数: 0 引用数: 0 h-index: 0机构: Chulalongkorn Univ, Dept Pediat, Ctr Excellence Med Genom, Fac Med, Bangkok, Thailand King Chulalongkorn Mem Hosp, Excellence Ctr Genom & Precis Med, Thai Red Cross Soc, Bangkok, Thailand Queen Sirikit Natl Inst Child Hlth, Dept Pediat, Bangkok, ThailandPorntaveetus, Thantrira论文数: 0 引用数: 0 h-index: 0机构: Chulalongkorn Univ, Dept Physiol, Ctr Excellence Genom & Precis Dent, Fac Dent, Bangkok 10330, Thailand Queen Sirikit Natl Inst Child Hlth, Dept Pediat, Bangkok, ThailandShotelersuk, Vorasuk论文数: 0 引用数: 0 h-index: 0机构: Chulalongkorn Univ, Dept Pediat, Ctr Excellence Med Genom, Fac Med, Bangkok, Thailand King Chulalongkorn Mem Hosp, Excellence Ctr Genom & Precis Med, Thai Red Cross Soc, Bangkok, Thailand Queen Sirikit Natl Inst Child Hlth, Dept Pediat, Bangkok, Thailand
- [23] Mutations in CRTAP or P3H1 cause dysregulation of prolyl-3-hydroxylation and recessive osteogenesis imperfectaJOURNAL OF BONE AND MINERAL RESEARCH, 2007, 22 : S73 - S73Baldridge, D.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USASchwarze, U.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Baylor Coll Med, Houston, TX 77030 USAMorello, R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USALennington, J.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USABertin, T. K.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USAEyre, D. R.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USAWeis, M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Baylor Coll Med, Houston, TX 77030 USAGreen, A.论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Hosp Sick Children, Dublin, Ireland Baylor Coll Med, Houston, TX 77030 USAWalsh, J.论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Hosp Sick Children, Dublin, Ireland Baylor Coll Med, Houston, TX 77030 USALambert, D.论文数: 0 引用数: 0 h-index: 0机构: Our Ladys Hosp Sick Children, Dublin, Ireland Baylor Coll Med, Houston, TX 77030 USAKrakow, D.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA Baylor Coll Med, Houston, TX 77030 USARimoin, D. L.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA Baylor Coll Med, Houston, TX 77030 USACohn, D. H.论文数: 0 引用数: 0 h-index: 0机构: Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA Baylor Coll Med, Houston, TX 77030 USAByers, P. H.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Seattle, WA 98195 USA Baylor Coll Med, Houston, TX 77030 USALee, B.论文数: 0 引用数: 0 h-index: 0机构: Baylor Coll Med, Houston, TX 77030 USA Baylor Coll Med, Houston, TX 77030 USA
- [24] A novel deep intronic variant strongly associates with Alkaptonurianpj Genomic Medicine, 6Chien-Yi Lai论文数: 0 引用数: 0 h-index: 0机构: National Taiwan University Hospital,Department of Medical GeneticsI-Jung Tsai论文数: 0 引用数: 0 h-index: 0机构: National Taiwan University Hospital,Department of Medical GeneticsPao-Chin Chiu论文数: 0 引用数: 0 h-index: 0机构: National Taiwan University Hospital,Department of Medical GeneticsDavid B. Ascher论文数: 0 引用数: 0 h-index: 0机构: National Taiwan University Hospital,Department of Medical GeneticsYin-Hsiu Chien论文数: 0 引用数: 0 h-index: 0机构: National Taiwan University Hospital,Department of Medical GeneticsYu-Hsuan Huang论文数: 0 引用数: 0 h-index: 0机构: National Taiwan University Hospital,Department of Medical GeneticsYi-Lin Lin论文数: 0 引用数: 0 h-index: 0机构: National Taiwan University Hospital,Department of Medical GeneticsWuh-Liang Hwu论文数: 0 引用数: 0 h-index: 0机构: National Taiwan University Hospital,Department of Medical GeneticsNi-Chung Lee论文数: 0 引用数: 0 h-index: 0机构: National Taiwan University Hospital,Department of Medical Genetics
- [25] A novel deep intronic variant strongly associates with AlkaptonuriaNPJ GENOMIC MEDICINE, 2021, 6 (01)Lai, Chien-Yi论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Natl Taiwan Univ, Dept Pediat, Children Hosp, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Pediat, Hsin Chu Branch, Hsinchu, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, TaiwanTsai, I-Jung论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ, Dept Pediat, Children Hosp, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, TaiwanChiu, Pao-Chin论文数: 0 引用数: 0 h-index: 0机构: Kaohsiung Vet Gen Hosp, Dept Pediat, Kaohsiung, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, TaiwanAscher, David B.论文数: 0 引用数: 0 h-index: 0机构: Baker Heart & Diabet Inst, Computat Biol & Clin Informat, Melbourne, Vic, Australia Univ Melbourne, Dept Biochem & Pharmacol, Struct Biol & Bioinformat, Melbourne, Vic, Australia Univ Melbourne, Bio21 Inst, Syst & Computat Biol, Melbourne, Vic, Australia Univ Cambridge, Bio21 Inst, Dept Biochem, Cambridge, England Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, TaiwanChien, Yin-Hsiu论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Natl Taiwan Univ, Dept Pediat, Children Hosp, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, TaiwanHuang, Yu-Hsuan论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, TaiwanLin, Yi-Lin论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, TaiwanHwu, Wuh-Liang论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Natl Taiwan Univ, Dept Pediat, Children Hosp, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, TaiwanLee, Ni-Chung论文数: 0 引用数: 0 h-index: 0机构: Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan Natl Taiwan Univ, Dept Pediat, Children Hosp, Taipei, Taiwan Natl Taiwan Univ Hosp, Dept Med Genet, Taipei, Taiwan
- [26] Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotypeMATRIX BIOLOGY, 2020, 90 : 40 - 60Tonelli, F.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, Italy Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, Italy论文数: 引用数: h-index:机构:Leoni, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, Italy Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, ItalyBesio, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, Italy Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, ItalyGioia, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, Italy Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, Italy论文数: 引用数: h-index:机构:Giorgetti, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, Italy Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, ItalyVillani, S.论文数: 0 引用数: 0 h-index: 0机构: Univ Pavia, Dept Publ Hlth & Expt & Forens Med, Unit Biostat & Clin Epidemiol, Pavia, Italy Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, ItalyGistelinck, C.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Orthoped & Sports Med, Seattle, WA 98195 USA Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, ItalyWagener, R.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Med Fac, Ctr Biochem, Ctr Mol Med, Cologne, Germany Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, ItalyKobbe, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Cologne, Med Fac, Ctr Biochem, Ctr Mol Med, Cologne, Germany Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, ItalyFiedler, I. A. K.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Osteol & Biomech, Hamburg, Germany Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, Italy论文数: 引用数: h-index:机构:Busse, B.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr Hamburg Eppendorf, Dept Osteol & Biomech, Hamburg, Germany Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, ItalyEyre, D.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Orthoped & Sports Med, Seattle, WA 98195 USA Univ Pavia, Dept Mol Med, Biochem Unit, Pavia, Italy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:
- [27] A novel intronic variant in UBE3A identified by genome sequencing in a patient with an atypical presentation of Angelman syndromeAMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (09) : 2145 - 2151Curtis, Meredith论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Genet Med, Toronto, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, CanadaBaribeau, Danielle论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Psychiat, Toronto, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, CanadaWalker, Susan论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, CanadaCarter, Melissa论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Eastern Ontario, Reg Genet Program, Ottawa, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, CanadaCostain, Gregory论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Genet Med, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, CanadaLamoureux, Sylvia论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, CanadaListon, Eriskay论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, CanadaMarshall, Christian R.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Genet Med, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, Canada Univ Toronto, Lab Med & Pathobiol, Toronto, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, CanadaReuter, Miriam S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Appl Genom, Toronto, ON, Canada Hosp Sick Children, CGEn, Toronto, ON, Canada Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, CanadaSnell, Meaghan论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Genet Med, Toronto, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, CanadaSummers, Jane论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Psychiat, Toronto, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, CanadaVorstman, Jacob论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Psychiat, Toronto, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, CanadaJobling, Rebekah K.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Ctr Genet Med, Toronto, ON, Canada Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON, Canada Hosp Sick Children, Dept Paediat Lab Med, Genome Diagnost, Toronto, ON, Canada Hosp Sick Children, Ctr Genet Med, Toronto, ON, Canada
- [28] A novel COL1A1 mutation causing a variant of osteogenesis imperfectaCLINICAL DYSMORPHOLOGY, 2017, 26 (04) : 243 - 246McVey, Lindsey C.论文数: 0 引用数: 0 h-index: 0机构: Univ Glasgow, Royal Hosp Children, Sch Med, Dev Endocrinol Res Grp,Child Hlth, Glasgow, Lanark, Scotland Univ Glasgow, Royal Hosp Children, Sch Med, Dev Endocrinol Res Grp,Child Hlth, Glasgow, Lanark, ScotlandMason, Avril论文数: 0 引用数: 0 h-index: 0机构: Univ Glasgow, Royal Hosp Children, Sch Med, Dev Endocrinol Res Grp,Child Hlth, Glasgow, Lanark, Scotland Univ Glasgow, Royal Hosp Children, Sch Med, Dev Endocrinol Res Grp,Child Hlth, Glasgow, Lanark, ScotlandPollitt, Rebecca论文数: 0 引用数: 0 h-index: 0机构: Sheffield Childrens NHS Fdn Trust, Western Bank, Sheffield Diagnost Genet Serv, Sheffield, S Yorkshire, England Univ Glasgow, Royal Hosp Children, Sch Med, Dev Endocrinol Res Grp,Child Hlth, Glasgow, Lanark, ScotlandAhmed, Syed Faisal论文数: 0 引用数: 0 h-index: 0机构: Univ Glasgow, Royal Hosp Children, Sch Med, Dev Endocrinol Res Grp,Child Hlth, Glasgow, Lanark, Scotland Univ Glasgow, Royal Hosp Children, Sch Med, Dev Endocrinol Res Grp,Child Hlth, Glasgow, Lanark, ScotlandKinning, Esther论文数: 0 引用数: 0 h-index: 0机构: Queen Elizabeth Hosp, West Scotland Genet Serv, Lab Med Bldg, 1345 Govan Rd, Glasgow G51 4TF, Lanark, Scotland Univ Glasgow, Royal Hosp Children, Sch Med, Dev Endocrinol Res Grp,Child Hlth, Glasgow, Lanark, Scotland
- [29] Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant ExonizationINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2020, 61 (10)Di Scipio, Matteo论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaTavares, Erika论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaDeshmukh, Shriya论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaAudo, Isabelle论文数: 0 引用数: 0 h-index: 0机构: Sorbonne Univ, CNRS, INSERM, Inst Vis, Paris, France INSERM, DGOS CIC1423, CHNO Quinze Vingts, Paris, France UCL, Inst Ophthalmol, London, England Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaGreen-Sanderson, Kit论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaZubak, Yuliya论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaZine-Eddine, Faycal论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaPearson, Alexander论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaVig, Anjali论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaTang, Chen Yu论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaMollica, Antonio论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaKaras, Jonathan论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaTumber, Anupreet论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON M5G 1X8, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaYu, Caberry W.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaBillingsley, Gail论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaWilson, Michael D.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Univ Toronto, Dept Mol Genet, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada论文数: 引用数: h-index:机构:Heon, Elise论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, CanadaVincent, Ajoy论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada Hosp Sick Children, Dept Ophthalmol & Vis Sci, Toronto, ON M5G 1X8, Canada Univ Toronto, Dept Ophthalmol & Vis Sci, Toronto, ON, Canada Hosp Sick Children, Genet & Genom Biol, Toronto, ON, Canada
- [30] A progeroid syndrome with severe osteogenesis imperfecta segregates with an intronic TAPT1 homozygous variant that creates a knockout alleleEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 402 - 403论文数: 引用数: h-index:机构:Bressin, Annkatrin论文数: 0 引用数: 0 h-index: 0机构: Max Planck Inst Mol Genet, Berlin, Germany ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, SingaporeChia, PohHui论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, Singapore ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, SingaporeTraspas, Ricardo Moreno论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, Singapore ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, SingaporeEscande-Beillard, Nathalie论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, Singapore Koc Univ, Med Genet Dept, Sch Med, Istanbul, Turkiye ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, SingaporeBonnard, Carine论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, Singapore ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, SingaporeHojat, Zohreh论文数: 0 引用数: 0 h-index: 0机构: Univ Isfahan, Fac Biol Sci & Technol, Div Genet, Dept Cell & Mol Biol & Microbiol, Esfahan, Iran ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, SingaporeDrutman, Scott论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY USA ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, SingaporeCasanova, Jean-Laurent论文数: 0 引用数: 0 h-index: 0机构: Rockefeller Univ, St Giles Lab Human Genet Infect Dis, Rockefeller Branch, New York, NY USA Necker Hosp Sick Children, Necker Branch, Lab Human Genet Infect Dis, INSERM U1163, Paris, France Univ Paris, Imagine Inst, Paris, France ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, Singapore论文数: 引用数: h-index:机构:Mayor, Andreas论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, SingaporeReversade, Bruno论文数: 0 引用数: 0 h-index: 0机构: ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, Singapore Koc Univ, Med Genet Dept, Sch Med, Istanbul, Turkiye ASTAR, Inst Mol & Cell Biol, 61 Biopolis Dr, Singapore, Singapore ASTAR, Genome Inst Singapore, Lab Human Genet & Therapeut, Singapore, Singapore