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- [31] A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1)DOCUMENTA OPHTHALMOLOGICA, 2021, 143 (01) : 61 - 73Pappalardo, Juanita论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, Australia Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, AustraliaHeath Jeffery, Rachael C.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, Australia Royal Perth Hosp, Dept Ophthalmol, Perth, WA, Australia Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, AustraliaThompson, Jennifer A.论文数: 0 引用数: 0 h-index: 0机构: Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Australian Inherited Retinal Dis Registry & DNA B, Perth, WA, Australia Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, AustraliaChelva, Enid论文数: 0 引用数: 0 h-index: 0机构: Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Australian Inherited Retinal Dis Registry & DNA B, Perth, WA, Australia Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, AustraliaPham, Quang论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, Australia Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, AustraliaConstable, Ian J.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, Australia Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, AustraliaMcLaren, Terri L.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, Australia Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Australian Inherited Retinal Dis Registry & DNA B, Perth, WA, Australia Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, AustraliaLamey, Tina M.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, Australia Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Australian Inherited Retinal Dis Registry & DNA B, Perth, WA, Australia Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, AustraliaDe Roach, John N.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, Australia Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Australian Inherited Retinal Dis Registry & DNA B, Perth, WA, Australia Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, AustraliaChen, Fred K.论文数: 0 引用数: 0 h-index: 0机构: Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, Australia Sir Charles Gairdner Hosp, Dept Med Technol & Phys, Australian Inherited Retinal Dis Registry & DNA B, Perth, WA, Australia Royal Perth Hosp, Dept Ophthalmol, Perth, WA, Australia Perth Childrens Hosp, Dept Ophthalmol, Nedlands, WA, Australia Univ Western Australia, Incorporating Lions Eye Inst, Ctr Ophthalmol & Visual Sci, 2 Verdun St, Nedlands, WA, Australia
- [32] TCIRG1 Transgenic Rescue of Osteoclast Function Using Induced Pluripotent Stem Cells Derived from Patients with Infantile Malignant Autosomal Recessive OsteopetrosisJOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME, 2019, 101 (21): : 1939 - 1947Chen, Weili论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA Univ Minnesota, Dept Pediat, Stem Cell Inst, Minneapolis, MN 55455 USA Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USATwaroski, Kirk论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA Univ Minnesota, Dept Pediat, Stem Cell Inst, Minneapolis, MN 55455 USA Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USAEide, Cindy论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA Univ Minnesota, Dept Pediat, Div Blood & Marrow Transplantat, Minneapolis, MN 55455 USA Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USARiddle, Megan J.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA Univ Minnesota, Dept Pediat, Div Blood & Marrow Transplantat, Minneapolis, MN 55455 USA Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USAOrchard, Paul J.论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA Univ Minnesota, Dept Pediat, Div Blood & Marrow Transplantat, Minneapolis, MN 55455 USA Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USATolar, Jakub论文数: 0 引用数: 0 h-index: 0机构: Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA Univ Minnesota, Dept Pediat, Stem Cell Inst, Minneapolis, MN 55455 USA Univ Minnesota, Dept Pediat, Div Blood & Marrow Transplantat, Minneapolis, MN 55455 USA Univ Minnesota, Dept Pediat, Minneapolis, MN 55455 USA
- [33] Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1JOURNAL OF CLINICAL INVESTIGATION, 2002, 110 (11): : 1695 - 1702Eden, ER论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, MRC, Ctr Clin Sci, London, EnglandPatel, DD论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, MRC, Ctr Clin Sci, London, EnglandSun, XM论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, MRC, Ctr Clin Sci, London, EnglandBurden, JJ论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, MRC, Ctr Clin Sci, London, EnglandThemis, M论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, MRC, Ctr Clin Sci, London, EnglandEdwards, M论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, MRC, Ctr Clin Sci, London, EnglandLee, P论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, MRC, Ctr Clin Sci, London, EnglandNeuwirth, C论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, MRC, Ctr Clin Sci, London, EnglandNaoumova, RP论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, MRC, Ctr Clin Sci, London, EnglandSoutar, AK论文数: 0 引用数: 0 h-index: 0机构: Univ London Imperial Coll Sci & Technol, MRC, Ctr Clin Sci, London, England
- [34] MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cellsNEUROBIOLOGY OF DISEASE, 2015, 76 : 37 - 45Djuric, Ugljesa论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, Canada Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, CanadaCheung, Aaron Y. L.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, Canada Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, CanadaZhang, Wenbo论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Neurosci & Mental Hlth, Toronto, ON M5G 0A4, Canada Univ Toronto, Dept Physiol, Toronto, ON M5S 1A8, Canada Univ Toronto, Ctr Study Pain, Toronto, ON M5T 1P8, Canada Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, CanadaMok, Rebecca S.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, Canada Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, CanadaLai, Wesley论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, Canada Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, CanadaPiekna, Alina论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, Canada Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, CanadaHendry, Jason A.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, Canada Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, CanadaRoss, P. Joel论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, Canada Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, CanadaPasceri, Peter论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, Canada Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, CanadaKim, Dae-Sung论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, Canada Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, CanadaSalter, Michael W.论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Neurosci & Mental Hlth, Toronto, ON M5G 0A4, Canada Univ Toronto, Dept Physiol, Toronto, ON M5S 1A8, Canada Univ Toronto, Ctr Study Pain, Toronto, ON M5T 1P8, Canada Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, CanadaEllis, James论文数: 0 引用数: 0 h-index: 0机构: Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, Canada Univ Toronto, Dept Mol Genet, Toronto, ON M5S 1A8, Canada Hosp Sick Children, Program Dev & Stem Cell Biol, Toronto, ON M5G 0A4, Canada