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- [31] Current insights in ultra-rare adenylosuccinate synthetase 1 myopathy - meeting report on the First Clinical and Scientific Conference. 3 June 2024, National Centre for Advancing Translational Science, Rockville, Maryland, the United States of AmericaORPHANET JOURNAL OF RARE DISEASES, 2024, 19 (01)Rybalka, Emma论文数: 0 引用数: 0 h-index: 0机构: Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, Australia Australian Inst Musculoskeletal Sci, Inherited & Acquired Myopathies Program, St Albans, Vic, Australia Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaPark, Hyung Jun论文数: 0 引用数: 0 h-index: 0机构: Yonshei Univ, Gangnam Severance Hosp, Dept Neurol, Coll Med, Seoul, South Korea Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaNalini, Atchayaram论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci NIMHANS, Dept Neurol, Bengaluru, India Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaBaskar, Dipti论文数: 0 引用数: 0 h-index: 0机构: Natl Inst Mental Hlth & Neurosci NIMHANS, Dept Neurol, Bengaluru, India Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaPolavarapu, Kiran论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON K1H 5B2, Canada Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaDurmus, Hacer论文数: 0 引用数: 0 h-index: 0机构: Istanbul Univ, Istanbul Fac Med, Dept Neurol, Istanbul, Turkiye Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaXia, Yang论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Natl Med Metabol Int Collaborat Res Ctr, Changsha, Peoples R China Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaWan, Linlin论文数: 0 引用数: 0 h-index: 0机构: Cent South Univ, Xiangya Hosp, Dept Radiol, Changsha, Peoples R China Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaShieh, Perry B.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif Los Angeles, Dept Neurol, Los Angeles, CA 90024 USA Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaMoghadaszadeh, Behzad论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston Childrens Hosp, Boston, MA USA Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaBeggs, Alan H.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Manton Ctr Orphan Dis Res, Boston Childrens Hosp, Boston, MA USA Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaMack, David L.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Inst Stem Cell & Regenerat Med, Seattle, WA USA Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaSmith, Alec S. T.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Inst Stem Cell & Regenerat Med, Seattle, WA USA Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaHanna-Rose, Wendy论文数: 0 引用数: 0 h-index: 0机构: Penn State Univ, Dept Biochem & Mol Biol, University Pk, PA USA Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaJinnah, Hyder A.论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Neurol Human Genet & Pediat, Atlanta, GA 30322 USA Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaTimpani, Cara A.论文数: 0 引用数: 0 h-index: 0机构: Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, Australia Australian Inst Musculoskeletal Sci, Inherited & Acquired Myopathies Program, St Albans, Vic, Australia Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaShen, Min论文数: 0 引用数: 0 h-index: 0机构: NIH, Div Preclin Innovat, Natl Ctr Adv Translat Sci, Rockville, MD 20850 USA Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaUpadhyay, Jaymin论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston Childrens Hosp, Dept Anaesthesia Crit Care & Pain Management, Boston, MA 02115 USA Harvard Med Sch, McLean Hosp, Dept Psychiat, Belmont, MA 02478 USA Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaBrault, Jeffrey J.论文数: 0 引用数: 0 h-index: 0机构: Indiana Sch Med, Ctr Musculoskeletal Hlth, Dept Anat Cell Biol & Physiol, Indianapolis, IN 46202 USA Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaHall, Matthew D.论文数: 0 引用数: 0 h-index: 0机构: NIH, Div Preclin Innovat, Natl Ctr Adv Translat Sci, Rockville, MD 20850 USA Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaBaweja, Naveen论文数: 0 引用数: 0 h-index: 0机构: Cure ADSSL1, Glendale, CA USA Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, AustraliaKakkar, Priyanka论文数: 0 引用数: 0 h-index: 0机构: Cure ADSSL1, Glendale, CA USA Victoria Univ, Inst Hlth & Sport, Melbourne, Vic, Australia
- [32] A Case of Solitary Fibrous Tumor of the Lung and Menetrier's Disease in 1 Patient: An Extremely Rare Clinical Pathological FindingAMERICAN JOURNAL OF GASTROENTEROLOGY, 2017, 112 : S1444 - S1445Buivydiene, Arida论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ Hosp Santaros Klin, Vilnius, Vilniaus Apskri, Lithuania Vilnius Univ Hosp Santaros Klin, Vilnius, Vilniaus Apskri, LithuaniaGaveliene, Edita论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ Hosp Santaros Klin, Vilnius, Vilniaus Apskri, Lithuania Vilnius Univ Hosp Santaros Klin, Vilnius, Vilniaus Apskri, LithuaniaPoskus, Eligijus论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ Hosp Santaros Klin, Vilnius, Vilniaus Apskri, Lithuania Vilnius Univ Hosp Santaros Klin, Vilnius, Vilniaus Apskri, LithuaniaValanciene, Dileta论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ Hosp Santaros Klin, Vilnius, Vilniaus Apskri, Lithuania Vilnius Univ Hosp Santaros Klin, Vilnius, Vilniaus Apskri, LithuaniaBarakauskiene, Ausrine论文数: 0 引用数: 0 h-index: 0机构: Dept Pathol, Vilnius, Vilniaus Apskri, Lithuania Dept Forens Med, Vilnius, Vilniaus Apskri, Lithuania Dept Pharmacol, Vilnius, Vilniaus Apskri, Lithuania Vilnius Univ Hosp Santaros Klin, Vilnius, Vilniaus Apskri, LithuaniaValantinas, Jonas论文数: 0 引用数: 0 h-index: 0机构: Vilnius Univ Hosp Santaros Klin, Vilnius, Vilniaus Apskri, Lithuania Vilnius Univ Hosp Santaros Klin, Vilnius, Vilniaus Apskri, Lithuania论文数: 引用数: h-index:机构:
- [33] Interim results for RGX-381: a first in human phase 1/2 clinical trial of AAV.CB7.hCLN2 gene therapy for CLN2 Batten disease-associated retinopathyINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (07)Henderson, Robert论文数: 0 引用数: 0 h-index: 0机构: Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, England UCL, Great Ormond St Inst Child Hlth, London, England Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, EnglandGissen, Paul论文数: 0 引用数: 0 h-index: 0机构: UCL, Great Ormond St Inst Child Hlth, London, England Children NHS Fdn Trust, Great Ormond St Hosp, Metab Med, London, England Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, EnglandPrise, Katrina论文数: 0 引用数: 0 h-index: 0机构: Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, England Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, EnglandVithlani, Ayeesha论文数: 0 引用数: 0 h-index: 0机构: Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, England Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, EnglandCornelius, Sarah论文数: 0 引用数: 0 h-index: 0机构: Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, England Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, EnglandRoche, Dermot论文数: 0 引用数: 0 h-index: 0机构: Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, England Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, EnglandThompson, Dorothy A.论文数: 0 引用数: 0 h-index: 0机构: Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, England UCL, Great Ormond St Inst Child Hlth, London, England Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, EnglandBuss, Nicholas论文数: 0 引用数: 0 h-index: 0机构: Akouos Inc, Boston, MA USA Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, EnglandBailey, Alexander论文数: 0 引用数: 0 h-index: 0机构: REGENXBIO Inc, Rockville, MD USA Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, EnglandPaulo, Falabella论文数: 0 引用数: 0 h-index: 0机构: REGENXBIO Inc, Rockville, MD USA Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, EnglandHuang, Wei Chieh论文数: 0 引用数: 0 h-index: 0机构: REGENXBIO Inc, Rockville, MD USA Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, EnglandBurke, Jenna论文数: 0 引用数: 0 h-index: 0机构: REGENXBIO Inc, Rockville, MD USA Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, EnglandOhnsman, Christina论文数: 0 引用数: 0 h-index: 0机构: REGENXBIO Inc, Rockville, MD USA Children NHS Fdn Trust, Great Ormond St Hosp, Ophthalmol, London, England
- [34] Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 casesCELL GENOMICS, 2023, 3 (02):Clause, Amanda R.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, Med Genom Res, San Diego, CA 92122 USA Illumina Inc, Med Genom Res, San Diego, CA 92122 USATaylor, Julie P.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, Med Genom Res, San Diego, CA 92122 USA Illumina Inc, Med Genom Res, San Diego, CA 92122 USARajkumar, Revathi论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, Med Genom Res, San Diego, CA 92122 USA Illumina Inc, Med Genom Res, San Diego, CA 92122 USABluske, Krista论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, Med Genom Res, San Diego, CA 92122 USA Illumina Inc, Med Genom Res, San Diego, CA 92122 USABennett, Maren论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, Med Genom Res, San Diego, CA 92122 USA Illumina Inc, Med Genom Res, San Diego, CA 92122 USAAmendola, Laura M.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, Med Genom Res, San Diego, CA 92122 USA Illumina Inc, Med Genom Res, San Diego, CA 92122 USABentley, David R.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, Med Genom Res, San Diego, CA 92122 USA Illumina Inc, Med Genom Res, San Diego, CA 92122 USATaft, Ryan J.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, Med Genom Res, San Diego, CA 92122 USA Illumina Inc, Med Genom Res, San Diego, CA 92122 USAPerry, Denise L.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, Med Genom Res, San Diego, CA 92122 USA Illumina Inc, Med Genom Res, San Diego, CA 92122 USACoffey, Alison J.论文数: 0 引用数: 0 h-index: 0机构: Illumina Inc, Med Genom Res, San Diego, CA 92122 USA Illumina Inc, Med Genom Res, San Diego, CA 92122 USA
- [35] HEMOFILTRATION (HF) WITH SORBENT REGENERATION OF ULTRA-FILTRATE (SRU) - 1ST CLINICAL EXPERIENCE IN END-STAGE RENAL-DISEASE (ESRD)KIDNEY INTERNATIONAL, 1978, 14 (01) : 111 - 111SHALDON, S论文数: 0 引用数: 0 h-index: 0机构: UNIV HOSP NIMES,DEPT NEPHROL,NIMES,FRANCEBEAU, MC论文数: 0 引用数: 0 h-index: 0机构: UNIV HOSP NIMES,DEPT NEPHROL,NIMES,FRANCECLARET, G论文数: 0 引用数: 0 h-index: 0机构: UNIV HOSP NIMES,DEPT NEPHROL,NIMES,FRANCEDESCHODT, G论文数: 0 引用数: 0 h-index: 0机构: UNIV HOSP NIMES,DEPT NEPHROL,NIMES,FRANCERAMPEREZ, P论文数: 0 引用数: 0 h-index: 0机构: UNIV HOSP NIMES,DEPT NEPHROL,NIMES,FRANCEMION, C论文数: 0 引用数: 0 h-index: 0机构: UNIV HOSP NIMES,DEPT NEPHROL,NIMES,FRANCE