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- [1] The Italian National Registry for FSHD: an enhanced data integration and an analytics framework towards Smart Health Care and Precision Medicine for a rare diseaseORPHANET JOURNAL OF RARE DISEASES, 2021, 16 (01)Bettio, Cinzia论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, Modena, Italy Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, Modena, ItalySalsi, Valentina论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Life Sci, Modena, Italy Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, Modena, ItalyOrsini, Mirko论文数: 0 引用数: 0 h-index: 0机构: DataRiver Srl, Modena, Italy Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, Modena, ItalyCalanchi, Enrico论文数: 0 引用数: 0 h-index: 0机构: DataRiver Srl, Modena, Italy Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, Modena, ItalyMagnotta, Luca论文数: 0 引用数: 0 h-index: 0机构: DataRiver Srl, Modena, Italy Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, Modena, ItalyGagliardelli, Luca论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Engn Enzo Ferrari, Modena, Italy Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, Modena, ItalyKinoshita, June论文数: 0 引用数: 0 h-index: 0机构: FSHD Soc, Reading, MA USA Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, Modena, ItalyBergamaschi, Sonia论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Engn Enzo Ferrari, Modena, Italy Univ Modena & Reggio Emilia, Dept Biomed Metab & Neural Sci, Modena, Italy论文数: 引用数: h-index:机构:
- [2] The Italian FSHD Registry: an enhanced data integration and analytics framework for Smart Health Care2017 IEEE 3RD INTERNATIONAL FORUM ON RESEARCH AND TECHNOLOGIES FOR SOCIETY AND INDUSTRY (RTSI), 2017, : 510 - 515Orsini, Mirko论文数: 0 引用数: 0 h-index: 0机构: DataRiver Srl, Modena, Italy DataRiver Srl, Modena, ItalyCalanchi, Enrico论文数: 0 引用数: 0 h-index: 0机构: DataRiver Srl, Modena, Italy DataRiver Srl, Modena, ItalyMagnotta, Luca论文数: 0 引用数: 0 h-index: 0机构: DataRiver Srl, Modena, Italy DataRiver Srl, Modena, ItalyGagliardelli, Luca论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Engn Enzo Ferrari, Modena, Italy DataRiver Srl, Modena, ItalyGovi, Monica论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Life Sci, Modena, Italy DataRiver Srl, Modena, ItalyMele, Fabiano论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Life Sci, Modena, Italy DataRiver Srl, Modena, ItalyTupler, Rossella论文数: 0 引用数: 0 h-index: 0机构: Univ Modena & Reggio Emilia, Dept Life Sci, Modena, Italy DataRiver Srl, Modena, Italy
- [3] The Italian National Rare Diseases Registry: a model of comparison and integration with Hospital Discharge DataJOURNAL OF PUBLIC HEALTH, 2019, 41 (01) : 46 - 54Kodra, Yllka论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Natl Ctr Rare Dis, Rome, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyMinelli, Giada论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Serv Stat, Rome, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyRocchetti, Adele论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Natl Ctr Rare Dis, Rome, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyManno, Valerio论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Serv Stat, Rome, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyCarinci, Annamaria论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Serv Stat, Rome, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyConti, Susanna论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Serv Stat, Rome, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyTaruscio, Domenica论文数: 0 引用数: 0 h-index: 0机构: Ist Super Sanita, Natl Ctr Rare Dis, Rome, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyLombardi, Giuliano论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Abruzzo Reg, Abruzzo, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyPalka, Giandomenico论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Abruzzo Reg, Abruzzo, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyAngione, Antonella论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Basilicata Reg, Basilicata, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyTripaldi, Domenico论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Basilicata Reg, Basilicata, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyBarone, Rosalba论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Calabria Reg, Calabria, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyAndria, Generoso论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Campania Reg, Campania, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyDella Casa, Roberto论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Campania Reg, Campania, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyFecarotta, Simona论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Campania Reg, Campania, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyScala, Iris论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Campania Reg, Campania, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyVizioli, Maria论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Emilia Romagna Reg, Emilia Romagna, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyVolta, Matteo论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Emilia Romagna Reg, Emilia Romagna, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyBembi, Bruno论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Friuli Venezia Giulia Reg, Friuli Venezia Giulia, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyDeroma, Laura论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Friuli Venezia Giulia Reg, Friuli Venezia Giulia, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyDi Lallo, Domenico论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Latium Reg, Latium, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyCastronuovo, Esmeralda论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Latium Reg, Latium, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyPignocco, Marco论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Latium Reg, Latium, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyRossi, Mirella论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Liguria Reg, Liguria, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyBottanelli, Laura论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Lombardy Reg, Lombardy, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyDaina, Erica论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Lombardy Reg, Lombardy, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyGamba, Sara论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Lombardy Reg, Lombardy, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyGabrielli, Orazio论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Marche Reg, Marche, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyDi Nunzio, Maria Lucia论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Molise Reg, Molise, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyAnnicchiarico, Giuseppina论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Apulia Reg, Apulia, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyMalerba, Maria论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Apulia Reg, Apulia, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyBaldovino, Simone论文数: 0 引用数: 0 h-index: 0机构: Interreg Registry Piedmont & Aosta Valley Reg, Aosta, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyRoccaiello, Dario论文数: 0 引用数: 0 h-index: 0机构: Interreg Registry Piedmont & Aosta Valley Reg, Aosta, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyAntonelli, Antonello论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Sardinia Reg, Sardinia, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyMoi, Paolo论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Sardinia Reg, Sardinia, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyPalmas, Maria Antonietta论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Sardinia Reg, Sardinia, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyPorcu, Rosanna论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Sardinia Reg, Sardinia, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyScondotto, Salvatore论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Sicily Reg, Sicily, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyBianchi, Fabrizio论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Tuscany Reg, Tuscany, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyPierini, Anna论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Tuscany Reg, Tuscany, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyPieroni, Federica论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Tuscany Reg, Tuscany, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyCasucci, Paola论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Umbria Reg, Umbria, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyChecconi, Ombretta论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Umbria Reg, Umbria, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyPatisso, Maria Concetta论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Umbria Reg, Umbria, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyFacchin, Paola论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Veneto Reg, Veneto, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyMazzucato, Monica论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Veneto Reg, Veneto, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyBenedicenti, Francesco论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Bolzano Autonomous Prov, Bolzano, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyMelani, Carla论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Bolzano Autonomous Prov, Bolzano, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyZuech, Paola论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Bolzano Autonomous Prov, Bolzano, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, ItalyDi Palma, Annunziata论文数: 0 引用数: 0 h-index: 0机构: Reg Registry Trento Autonomous Prov, Trento, Italy Ist Super Sanita, Natl Ctr Rare Dis, Rome, Italy
- [4] If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)CONTEMPORARY CLINICAL TRIALS, 2012, 33 (02) : 302 - 311Hilbert, James E.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USAKissel, John T.论文数: 0 引用数: 0 h-index: 0机构: Ohio Univ, Dept Neurol, Columbus, OH USA Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USALuebbe, Elizabeth A.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USAMartens, William B.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USAMcDermott, Michael P.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Biostat & Computat Biol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USASanders, Donald B.论文数: 0 引用数: 0 h-index: 0机构: Duke Univ, Med Ctr, Div Neurol, Durham, NC 27710 USA Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USATawil, Rabi论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USAThornton, Charles A.论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USAMoxley, Richard T., III论文数: 0 引用数: 0 h-index: 0机构: Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA Univ Rochester, Med Ctr, Dept Neurol, Rochester, NY 14642 USA
- [5] MMFP-Tableau: enabling precision mitochondrial medicine through integration, visualization, and analytics of clinical and research health system electronic dataJAMIA OPEN, 2024, 7 (04)George-Sankoh, Ibrahim论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Biomed & Hlth Informat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USAMacmullen, Laura E.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USAChinwalla, Asif T.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Biomed & Hlth Informat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USATaylor, Deanne论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Biomed & Hlth Informat, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USAGanetzky, Rebecca D.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Ctr Computat Genom Med, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USAStanley, Katelynn论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USAMccormick, Elizabeth M.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USAZolkipli-Cunningham, Zarazuela论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USAFalk, Marni J.论文数: 0 引用数: 0 h-index: 0机构: Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USA Univ Penn, Perelman Sch Med, Dept Pediat, Philadelphia, PA 19104 USA Childrens Hosp Philadelphia, Dept Pediat, Mitochondrial Med Frontier Program MMFP, Div Human Genet, ARC 1002c,3615 Civic Ctr Blvd, Philadelphia, PA 19104 USA
- [6] The Irish National Rare Disease Office (NRDO): A national step towards improving access to health and care services for individuals and families living with Rare DiseasesINTERNATIONAL JOURNAL OF INTEGRATED CARE, 2017, 17Lambert, Deborah论文数: 0 引用数: 0 h-index: 0机构: Natl Rare Dis Off, Dublin, Ireland HSE RCPI Natl Clin Programme Rare Dis, Dublin, IrelandMarron, Rita论文数: 0 引用数: 0 h-index: 0机构: Natl Rare Dis Off, Dublin, Ireland HSE RCPI Natl Clin Programme Rare Dis, Dublin, IrelandTurner, Jackie论文数: 0 引用数: 0 h-index: 0机构: Natl Rare Dis Off, Dublin, Ireland HSE RCPI Natl Clin Programme Rare Dis, Dublin, IrelandO'Connell, Susan M.论文数: 0 引用数: 0 h-index: 0机构: HSE RCPI Natl Clin Programme Rare Dis, Dublin, Ireland Natl Rare Dis Off, Dublin, Ireland HSE RCPI Natl Clin Programme Rare Dis, Dublin, IrelandO'Sullivan, Grace论文数: 0 引用数: 0 h-index: 0机构: HSE RCPI Natl Clin Programme Rare Dis, Dublin, Ireland Natl Rare Dis Off, Dublin, Ireland HSE RCPI Natl Clin Programme Rare Dis, Dublin, IrelandLynch, Sally Ann论文数: 0 引用数: 0 h-index: 0机构: HSE RCPI Natl Clin Programme Rare Dis, Dublin, Ireland Natl Rare Dis Off, Dublin, Ireland HSE RCPI Natl Clin Programme Rare Dis, Dublin, IrelandTreacy, Eileen P.论文数: 0 引用数: 0 h-index: 0机构: HSE RCPI Natl Clin Programme Rare Dis, Dublin, Ireland Natl Rare Dis Off, Dublin, Ireland HSE RCPI Natl Clin Programme Rare Dis, Dublin, Ireland
- [7] Prominent signs of disease progression: Data from the National Institute of Health's (NIH) Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Dystrophy (FSHD) patients and family membersNEUROLOGY, 2006, 66 (05) : A151 - A151Hilbert, JE论文数: 0 引用数: 0 h-index: 0Donlin-Smith, CM论文数: 0 引用数: 0 h-index: 0Martens, WB论文数: 0 引用数: 0 h-index: 0Moxley, RT论文数: 0 引用数: 0 h-index: 0
- [8] Integration of clinical AI into health care of patients with rare diseases: experiences in the German national diagnostic framework for molecular testing beyond the exomeEUROPEAN JOURNAL OF HUMAN GENETICS, 2023, 31 : 63 - 63Danyel, Magdalena论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanySchmidt, Axel论文数: 0 引用数: 0 h-index: 0机构: Univ klinikum Bonn, Inst Human Genet, Bonn, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyBrunet, Theresa论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyEngels, Hartmut论文数: 0 引用数: 0 h-index: 0机构: Univ klinikum Bonn, Inst Human Genet, Bonn, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyKnaus, Alexej论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Bonn, Inst Genom Stat & Bioinformat, Bonn, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyGrundmann-Hauser, Kathrin论文数: 0 引用数: 0 h-index: 0机构: Univ klinikum Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyHaack, Tobias论文数: 0 引用数: 0 h-index: 0机构: Univ klinikum Tubingen, Inst Med Genet & Appl Genom, Tubingen, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyMoosa, Shahida论文数: 0 引用数: 0 h-index: 0机构: Univ Stellenbosch, Cape Town, South Africa Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyKlinkhammer, Hannah论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Bonn, Inst Genom Stat & Bioinformat, Bonn, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyEhmke, Nadja论文数: 0 引用数: 0 h-index: 0机构: Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyWagner, Matias论文数: 0 引用数: 0 h-index: 0机构: Tech Univ Munich, Inst Human Genet, Munich, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, GermanyKrawitz, Peter论文数: 0 引用数: 0 h-index: 0机构: Univ Klinikum Bonn, Inst Genom Stat & Bioinformat, Bonn, Germany Charite Univ Med Berlin, Inst Med Genet & Human Genet, Berlin, Germany