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Clinical and geneti...
Clinical and genetic profile of patients enrolled in the Transthyretin Amyloidosis Outcomes Survey (THAOS) : 14-year update
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- Dispenzieri, Angela (författare)
- Division of Hematology, Mayo Clinic, MN, Rochester, United States
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- Coelho, Teresa (författare)
- Unidade Corino Andrade, Hospital Santo António, Centro Hospitalar Universitário do Porto, Porto, Portugal
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- Conceição, Isabel (författare)
- Department of Neurosciences, CHULN, Hospital de Santa Maria, Universidade de Lisboa, Lisbon, Portugal
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visa fler...
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- Waddington-Cruz, Márcia (författare)
- University Hospital, Federal University of Rio de Janeiro, National Amyloidosis Referral Center, CEPARM, Rio de Janeiro, Brazil
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- Wixner, Jonas (författare)
- Umeå universitet,Avdelningen för medicin
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- Kristen, Arnt V. (författare)
- Department of Cardiology, Angiology, Respiratory Medicine, Medical University of Heidelberg, Heidelberg, Germany
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- Rapezzi, Claudio (författare)
- Cardiological Centre, University of Ferrara, Ferrara, Italy; Maria Cecilia Hospital, GVM Care & Research, Cotignola, Ravenna, Italy
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- Planté-Bordeneuve, Violaine (författare)
- Hôpital Henri Mondor – AP-HP, East Paris University, Créteil, France
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- Gonzalez-Moreno, Juan (författare)
- Servicio de Medicina Interna, Hospital Universitario Son Llatzer, Instituto de Investigación Sanitaria Illes Balears, Palma de Mallorca, Spain
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- Maurer, Mathew S. (författare)
- Columbia University College of Physicians and Surgeons, NY, New York, United States
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- Grogan, Martha (författare)
- Department of Cardiovascular Diseases, Mayo Clinic, MN, Rochester, United States
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- Chapman, Doug (författare)
- Pfizer Inc, NY, New York, United States
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- Amass, Leslie (författare)
- Pfizer Inc, NY, New York, United States
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- Pavia, Pablo Garcia (författare)
- Hospital Universitario Puerta de Hierro, Majadahonda, Spain
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- Tarnev, Ivaylo (författare)
- Alexandrovska University Hospital Clinic of Neurology, Sofia, Bulgaria
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- Costello, Jose Gonzalez (författare)
- Hospital Universitari de Bellvitge, Barcelona, Spain
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- Briseno, Maria Alejandra Gonzalez Duarte (författare)
- Instituto Nacional de Ciencia Medicas y Nutricion Salvador Zubiran, Distrito Federal, Mexico
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- Schmidt, Hartmut (författare)
- Universitatsklinikum Muenster – Transplant Hepatology, Muenster, Germany
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- Drachman, Brian (författare)
- University of Pennsylvania – Perelman Center for Advanced Medicine, PA, Philadelphia, United States
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- Barroso, Fabio Adrian (författare)
- FLENI, Ciudad Autonoma de Buenos Aires, Argentina
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- Yamashita, Taro (författare)
- Kumamoto University, Kumamoto-City, Japan
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- Lairez, Olivier (författare)
- CHU de Toulouse – Hôpital Rangueil, Toulouse, France
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- Sekijima, Yoshiki (författare)
- Shinshu University School of Medicine, Matsumoto, Japan
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- Vita, Giuseppe (författare)
- AOU Policlinico G. Martino – Messina – Dr. Vita, Messina, Italy
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- Jeon, Eun-Seok (författare)
- Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea
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- Hanna, Mazen (författare)
- Cleveland Clinic Foundation, OH, Cleveland, United States
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- Slosky, David (författare)
- Vanderbilt University School of Medicine, TN, Nashville, United States
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- Luigetti, Marco (författare)
- Fondazione Policlinico Gemelli, Universita Cattolica del Sacro Cuore, Rome, Italy
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- LoRusso, Samantha (författare)
- The Ohio University College of Medicine, OH, Columbus, United States
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- Beamud, Francisco Munoz (författare)
- Hospital Juan Ramon Jimenez, Huelva, Spain
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- Adams, David (författare)
- CHU de Bicêtre, Paris, France
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- Moelgaard, Henning (författare)
- Aarhus University Hospital, Skejby, Aarhus, Denmark
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- Press, Rayomand (författare)
- Karolinska University Hospital, Stockholm, Sweden
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- Cirami, Calogero Lino (författare)
- Azienda Ospedaliero-Universitaria Di Careggi, Florence, Italy
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- Nienhuis, Hans (författare)
- University Medical Center Groningen, Groningen, Netherlands
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- Plana, Josep Maria Campistol (författare)
- Institut Clinic de Nefrologia i Urologia – ICNU, Hospital Clinic i Provincial de Barcelona, Barcelona, Spain
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- Inamo, Jocelyn (författare)
- CHU de Fort-de-France, Fort-de-France, France
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- Jacoby, Daniel (författare)
- Smilow Cancer Hospital at Yale-New Haven, CT, New Haven, United States
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- Emdin, Michele (författare)
- Fondazione Toscana Gabriele Monasterio Per La Ricerca Medica E Di Sanita Pubblica, Pisa, Italy
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- Quan, Dianna (författare)
- UC Denver, CO, Aurora, United States
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- Hummel, Scott (författare)
- University of Michigan, MI, Ann Arbor, United States
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- Witteles, Ronald (författare)
- Stanford University School of Medicine, CA, Stanford, United States
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- Dori, Amir (författare)
- Sheba Medical Center, Ramat Gan, Israel
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- Shah, Sanjiv (författare)
- Northwestern University, IL, Chicago, United States
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- Lenihan, Daniel (författare)
- Washington University School of Medicine, WA, St. Louis, United States
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- Azevedo, Olga (författare)
- Centro Hospitalar Do Alto Ave, Epe, Guimaraes, Portugal
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- Murali, Srinivas (författare)
- Wexford Health and Wellness Pavillion, PA, Pittsburgh, United States
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- Zivkovic, Sasa (författare)
- University of Pittsburgh Medical Center (UPMC), PA, Pittsburgh, United States; University of Pittsburgh Medical Center (UPMC), Pittsburgh, United States
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- Low, Soon Chai (författare)
- University Malaya Medical Centre (UMMC), Kuala Lumpur, Malaysia
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- Nativi-Nicolau, Jose (författare)
- The University of Utah Health Sciences Center, UT, Salt Lake City, United States
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- Fine, Nowell (författare)
- University of Alberta Foothills Medical Centre, AB, Calgary, Canada
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- Tallaj, Jose (författare)
- University of Alabama at Birmingham, AL, Birmingham, United States
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- Tschoepe, Carsten (författare)
- Charité Campus Rudolf-Virchow-Klinikum, Berlin, Germany
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- Torrón, Roberto Fernandéz (författare)
- Hospital Universitario Donostia, Gipuzkoa, San Sebastian, Spain
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- Polydefkis, Michael (författare)
- Johns Hopkins Hospital, MD, Baltimore, United States
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- Merlini, Giampaolo (författare)
- Centro per lo Studio e la Cura delle Amiloidosi Sistemiche, Pavia, Italy
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- Badelita, Sorina (författare)
- Institutul de Cardiologie Prof. Dr. C. C. Iliescu Spitalului Fundeni, Bucharest, Romania
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- Gottlieb, Stephen (författare)
- University of Maryland, MD, Baltimore, United States
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- Tauras, James (författare)
- Montefiore Medical Center-Jack D. Weiler Hospital, NY, Bronx, United States
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- Correia, Edileide Barros (författare)
- Instituto Dante Pazzanese De Cardiologia, Sao Paulo, Brazil
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- Ventura, Hector (författare)
- John Ochsner Heart & Vascular Institute, LA, New Orleans, United States
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- Gess, Burkhard (författare)
- University Hospital of RWTH Aachen, Aachen, Germany
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- Darstein, Felix (författare)
- Johann-Gutenberg-Universität, Mainz, Germany
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- Oh, Jeeyoung (författare)
- Konkuk University Medical Center, Seoul, South Korea
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- Marburger, Tessa (författare)
- Oregon Health and Science University, OR, Portland, United States
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- Van Cleemput, Johan (författare)
- Afdeling Klinische Cardiologie, O&N I, Louvain, Belgium
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- Salutto, Valeria Lujan (författare)
- Instituto De Investigaciones Medicas Dr Alfredo Lanari, Buenos Aires, Argentina
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- Parman, Yesim (författare)
- Department of Neurology, Istanbul University, Istanbul, Turkey
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- Chao, Chi-Chao (författare)
- National Taiwan University Hospital, Taipei, Taiwan
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- Sarswat, Nitasha (författare)
- University of Chicago Medical Center, IL, Chicago, United States
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- Mueller, Christopher (författare)
- Medical College of Wisconsin, WI, Milwaukee, United States
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- Steidley, David (författare)
- Mayo Clinic Arizona, AZ, Phoenix, United States
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- Ralph, Jeffrey (författare)
- Department of Neurology, University of CA – San Francisco, CA, San Francisco, United States
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- Warner, Alberta (författare)
- VA Greater Los Angeles Healthcare System, CA, Los Angeles, United States
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- Cotts, William (författare)
- Advocate Christ Medical Centre, IL, Oak Lawn, United States
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- Hoffman, James (författare)
- University of Miami Hospital & Clinics, FL, Miami, United States
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- Rugiero, Marcelo (författare)
- Hospital Italiano de Buenos Aires (HIBA), Buenos Aires, Argentina
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- Misawa, Sonoko (författare)
- Chiba University Hospital, Chiba-shi, Japan
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- Blanco, Jose Luis Munoz (författare)
- Hospital Gregorio Marañón, Madrid, Spain
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- Davila, Lucia Galan (författare)
- Hospital Clinico San Carlos, Madrid, Spain
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- Sadeh, Menachem (författare)
- Wolfson Medical Center, Holon, Israel
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- Luo, Jin (författare)
- Temple University School of Medicine, PA, Philadelphia, United States
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- Kyriakides, Theodoros (författare)
- Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus
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- Wang, Annabel (författare)
- University of California Irvine, CA, Orange, United States
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- Kaufmann, Horacio (författare)
- NYU Medical Center, NY, New York, United States
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(creator_code:org_t)
- 2022-06-18
- 2022
- Engelska.
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Ingår i: Orphanet Journal of Rare Diseases. - : BioMed Central (BMC). - 1750-1172. ; 17:1
- Relaterad länk:
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https://doi.org/10.1...
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visa fler...
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https://umu.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Background: Transthyretin amyloidosis (ATTR amyloidosis) is a rare, life-threatening disease caused by the accumulation of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in the heart, peripheral nerves, and other tissues and organs.Methods: Established in 2007, the Transthyretin Amyloidosis Outcomes Survey (THAOS) is the largest ongoing, global, longitudinal observational study of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic carriers of pathogenic TTR mutations. This descriptive analysis examines baseline characteristics of symptomatic patients and asymptomatic gene carriers enrolled in THAOS since its inception in 2007 (data cutoff: August 1, 2021).Results: This analysis included 3779 symptomatic patients and 1830 asymptomatic gene carriers. Symptomatic patients were predominantly male (71.4%) and had a mean (standard deviation [SD]) age of symptom onset of 56.3 (17.8) years. Val30Met was the most common genotype in symptomatic patients in South America (80.9%), Europe (55.4%), and Asia (50.5%), and more patients had early- versus late-onset disease in these regions. The majority of symptomatic patients in North America (58.8%) had ATTRwt amyloidosis. The overall distribution of phenotypes in symptomatic patients was predominantly cardiac (40.7%), predominantly neurologic (40.1%), mixed (16.6%), and no phenotype (2.5%). In asymptomatic gene carriers, mean (SD) age at enrollment was 42.4 (15.7) years, 42.4% were male, and 73.2% carried the Val30Met mutation.Conclusions: This 14-year global overview of THAOS in over 5000 patients represents the largest analysis of ATTR amyloidosis to date and highlights the genotypic and phenotypic heterogeneity of the disease.ClinicalTrials.gov Identifier: NCT00628745.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Neurologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Neurology (hsv//eng)
Nyckelord
- Amyloidosis
- Cardiomyopathy
- Polyneuropathy
- Registry
- Transthyretin
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Dispenzieri, Ang ...
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Coelho, Teresa
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Conceição, Isabe ...
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Waddington-Cruz, ...
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Wixner, Jonas
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Kristen, Arnt V.
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Rapezzi, Claudio
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Planté-Bordeneuv ...
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Gonzalez-Moreno, ...
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Maurer, Mathew S ...
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Grogan, Martha
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Chapman, Doug
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Amass, Leslie
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Pavia, Pablo Gar ...
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Tarnev, Ivaylo
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Costello, Jose G ...
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Briseno, Maria A ...
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Schmidt, Hartmut
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Drachman, Brian
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Barroso, Fabio A ...
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Yamashita, Taro
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Lairez, Olivier
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Sekijima, Yoshik ...
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Vita, Giuseppe
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Jeon, Eun-Seok
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Hanna, Mazen
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Slosky, David
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Luigetti, Marco
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LoRusso, Samanth ...
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Beamud, Francisc ...
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Adams, David
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Moelgaard, Henni ...
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Press, Rayomand
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Cirami, Calogero ...
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Nienhuis, Hans
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Plana, Josep Mar ...
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Inamo, Jocelyn
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Jacoby, Daniel
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Emdin, Michele
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Quan, Dianna
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Hummel, Scott
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Witteles, Ronald
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Dori, Amir
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Shah, Sanjiv
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Lenihan, Daniel
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Azevedo, Olga
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Murali, Srinivas
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Zivkovic, Sasa
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Low, Soon Chai
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Nativi-Nicolau, ...
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Fine, Nowell
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Tallaj, Jose
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Tschoepe, Carste ...
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Torrón, Roberto ...
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Polydefkis, Mich ...
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Merlini, Giampao ...
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Badelita, Sorina
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Gottlieb, Stephe ...
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Tauras, James
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Correia, Edileid ...
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Ventura, Hector
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Gess, Burkhard
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Darstein, Felix
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Oh, Jeeyoung
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Marburger, Tessa
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Van Cleemput, Jo ...
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Salutto, Valeria ...
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Parman, Yesim
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Chao, Chi-Chao
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Sarswat, Nitasha
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Mueller, Christo ...
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Steidley, David
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Ralph, Jeffrey
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Warner, Alberta
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Cotts, William
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Hoffman, James
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Rugiero, Marcelo
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Misawa, Sonoko
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Blanco, Jose Lui ...
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Davila, Lucia Ga ...
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Sadeh, Menachem
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Luo, Jin
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Kyriakides, Theo ...
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Wang, Annabel
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Kaufmann, Horaci ...
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