학술논문


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'학술논문' 에서 검색결과 18건 | 목록 1~20
Academic Journal
Westenberger A; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Verdura E; Therapeutics and Innovation in Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Radefeldt M; CENTOGENE GmbH, Rostock, Germany.; Sanderson LE; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Tripolszki K; CENTOGENE GmbH, Rostock, Germany.; Marcé-Grau A; Therapeutics and Innovation in Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Cazurro-Gutiérrez A; Therapeutics and Innovation in Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Herzog R; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Al-Ali R; CENTOGENE GmbH, Rostock, Germany.; Ferreira M; CENTOGENE GmbH, Rostock, Germany.; Almeida LS; CENTOGENE GmbH, Rostock, Germany.; Silveira TRD; CENTOGENE GmbH, Rostock, Germany.; Khan S; CENTOGENE GmbH, Rostock, Germany.; Maia RD; Department of Neurology, Hospital Universitário Cassiano Antônio de Moraes, Universidade Federal do Espírito Santo, Vitória, Brazil.; Klivényi P; Department of Neurology, University of Szeged, Szeged, Hungary.; MTA-SZTE Neuroscience Research Group of the Hungarian Academy of Sciences, Szeged, Hungary.; Salamon A; Department of Neurology, University of Szeged, Szeged, Hungary.; Baltaci V; Mikrogen, Istanbul, Turkey.; Subasioglu A; Department of Medical Genetics, Izmir Katip Çelebi University, Izmir, Turkey.; Prada-Arismendy J; Biomedical Research and Innovation Group (GI2B), Instituto Tecnológico Metropolitano ITM, Medellin, Colombia.; Čuturilo G; Department of Clinical Genetics, University Children's Hospital Belgrade, Belgrade, Serbia.; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Loens S; Institute of Systems Motor Science, University of Lübeck, Lübeck, Germany.; Tadic V; Department of Neurology, University Medical Center Schleswig-Holstein, Lübeck, Germany.; Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium.; URPHyM, Faculté de Médecine, Unamur, Namur, Belgium.; Karadurmus D; Institut de Pathologie et de Génétique, Gosselies, Belgium.; Leube B; Institute of Human Genetics, University Hospital and Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; De Winter J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Monticelli A; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; De Waele L; University Hospitals Leuven, Department of Child Neurology, Leuven, Belgium.; KU Leuven, Department of Development and Regeneration, Leuven, Belgium.; Baets J; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, Antwerp, Belgium.; Vinkšel M; University Medical Centre Ljubljana, Clinical Institute of Genomic Medicine, Ljubljana, Slovenia.; Maver A; University Medical Centre Ljubljana, Clinical Institute of Genomic Medicine, Ljubljana, Slovenia.; University of Ljubljana, Faculty of Medicine, Ljubljana, Slovenia.; Tschopp L; Sección de Movimientos Anormales, Servicio de Neurología, Hospital Churruca, Buenos Aires, Argentina.; Ziegler G; Sección de Movimientos Anormales, Servicio de Neurología, Hospital Churruca, Buenos Aires, Argentina.; Sanguinetti A; Sección de Movimientos Anormales, Servicio de Neurología, Hospital Churruca, Buenos Aires, Argentina.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Bauer P; CENTOGENE GmbH, Rostock, Germany.; Perez-Dueñas B; Therapeutics and Innovation in Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.; Department of Pediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Biomedical Research Networking Center on Rare Diseases (CIBERER), Madrid, Spain.; Bertoli-Avella AM; CENTOGENE GmbH, Rostock, Germany.
Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE
Academic Journal
Pardo LM; CENTOGENE GmbH, Rostock, Germany.; Martini J; CENTOGENE GmbH, Rostock, Germany.; Zonic E; CENTOGENE GmbH, Rostock, Germany.; Almeida LS; CENTOGENE GmbH, Rostock, Germany.; Iqbal M; CENTOGENE GmbH, Rostock, Germany.; Sadagopan M; CENTOGENE GmbH, Rostock, Germany.; Reyes AP; CENTOGENE GmbH, Rostock, Germany.; León NY; CENTOGENE GmbH, Rostock, Germany.; Musambil M; Genetics Department, Thuriah Medical Center, Riyadh, Saudi Arabia.; Alfadhel M; Medical Genomic Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences (KSAU-HS), Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital (KASCH), King Abdulaziz Medical City, Ministry of National Guard Health Affairs (MNG-HA), Riyadh, Saudi Arabia.; Dar FJ; Department of Pathology, Laboratory Medicine and Blood Bank, International Medical Center, Jeddah, Saudi Arabia.; Tahir F; Department of Obstetrics and Gynecology, Umm Al-Qura University, Makkah, Saudi Arabia.; AlSulmi E; Department of Obstetrics and Gynecology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.; Al Qahtani N; Department of Obstetrics and Gynecology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.; Al Taifi HA; Department of Obstetrics and Gynecology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.; Al Hamad M; Department of Pathology, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.; Alhaddad B; Department of Laboratory Medicine, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.; Lifera Omics, Riyadh, Saudi Arabia.; Almubayedh S; Department of Laboratory Medicine, College of Medicine, Imam Abdulrahman Bin Faisal University, Dammam, Saudi Arabia.; Alabdi L; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Alkuraya FS; Lifera Omics, Riyadh, Saudi Arabia.; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Tabarki B; Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Tawhari A; Prince Sultan Military Medical City, Riyadh, Saudi Arabia.; Alhashem A; King Fahad Specialist Hospital, Dammam, Saudi Arabia.; Bauer P; CENTOGENE GmbH, Rostock, Germany.; Pomeranian Medical University, Szczecin, Poland.; Bertoli-Avella A; CENTOGENE GmbH, Rostock, Germany.
Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Academic Journal
Bertoli-Avella AM; CENTOGENE GmbH, Rostock, Germany. Aida.Bertoli-Avella@centogene.com.; Radefeldt M; CENTOGENE GmbH, Rostock, Germany.; Al-Ali R; CENTOGENE GmbH, Rostock, Germany.; Pardo LM; CENTOGENE GmbH, Rostock, Germany.; Lemke S; CENTOGENE GmbH, Rostock, Germany.; Leubauer A; CENTOGENE GmbH, Rostock, Germany.; Polla DL; CENTOGENE GmbH, Rostock, Germany.; Hörnicke R; CENTOGENE GmbH, Rostock, Germany.; Almeida LS; CENTOGENE GmbH, Rostock, Germany.; Kandaswamy KK; CENTOGENE GmbH, Rostock, Germany.; Beetz C; CENTOGENE GmbH, Rostock, Germany.; Pinto Basto J; CENTOGENE GmbH, Rostock, Germany.; Bauer P; CENTOGENE GmbH, Rostock, Germany.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Guatibonza Moreno P; CENTOGENE GmbH, Rostock, Germany.; Pardo LM; CENTOGENE GmbH, Rostock, Germany.; Pereira C; CENTOGENE GmbH, Rostock, Germany.; Schroeder S; CENTOGENE GmbH, Rostock, Germany.; Vagiri D; CENTOGENE GmbH, Rostock, Germany.; Almeida LS; CENTOGENE GmbH, Rostock, Germany.; Juaristi C; CENTOGENE GmbH, Rostock, Germany.; Hosny H; CENTOGENE GmbH, Rostock, Germany.; Loh CCY; CENTOGENE GmbH, Rostock, Germany.; Leubauer A; CENTOGENE GmbH, Rostock, Germany.; Torres Morales G; CENTOGENE GmbH, Rostock, Germany.; Oppermann S; CENTOGENE GmbH, Rostock, Germany.; Iurașcu MI; CENTOGENE GmbH, Rostock, Germany.; Fischer S; CENTOGENE GmbH, Rostock, Germany.; Steinicke TM; CENTOGENE GmbH, Rostock, Germany.; Viceconte N; CENTOGENE GmbH, Rostock, Germany.; Cozma C; CENTOGENE GmbH, Rostock, Germany.; Kandaswamy KK; CENTOGENE GmbH, Rostock, Germany.; Pinto Basto J; CENTOGENE GmbH, Rostock, Germany.; Böttcher T; CENTOGENE GmbH, Rostock, Germany.; Bauer P; CENTOGENE GmbH, Rostock, Germany. Peter.Bauer@centogene.com.; Univesrity of Rostock, Rostock, Germany. Peter.Bauer@centogene.com.; Bertoli-Avella A; CENTOGENE GmbH, Rostock, Germany.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Zonic E; CENTOGENE GmbH, Rostock, Germany.; Ferreira M; CENTOGENE GmbH, Rostock, Germany.; Pardo LM; CENTOGENE GmbH, Rostock, Germany.; Martini J; CENTOGENE GmbH, Rostock, Germany.; Rocha ME; CENTOGENE GmbH, Rostock, Germany.; Aanicai R; CENTOGENE GmbH, Rostock, Germany.; Ordonez-Herrera N; CENTOGENE GmbH, Rostock, Germany.; Saravanakumar D; CENTOGENE GmbH, Rostock, Germany.; Almeida LS; CENTOGENE GmbH, Rostock, Germany.; Fernandes IC; CENTOGENE GmbH, Rostock, Germany.; Gulati N; CENTOGENE GmbH, Rostock, Germany.; Mannepalli S; CENTOGENE GmbH, Rostock, Germany.; Hercegovac A; University of Tuzla, Faculty of Natural Sciences and Mathematics, Bosnia and Herzegovina.; Al-Ali R; CENTOGENE GmbH, Rostock, Germany.; Pereira C; CENTOGENE GmbH, Rostock, Germany.; Paknia O; CENTOGENE GmbH, Rostock, Germany.; Hladnik U; CENTOGENE GmbH, Rostock, Germany.; Bauer P; CENTOGENE GmbH, Rostock, Germany.; University of Rostock, Rostock, Germany.; Pinto Basto J; CENTOGENE GmbH, Rostock, Germany.; Bertoli-Avella AM; CENTOGENE GmbH, Rostock, Germany.
Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE
Academic Journal
Almeida LS; CENTOGENE GmbH, 18055, Rostock, Germany.; Pereira C; CENTOGENE GmbH, 18055, Rostock, Germany.; Aanicai R; CENTOGENE GmbH, 18055, Rostock, Germany.; Schröder S; CENTOGENE GmbH, 18055, Rostock, Germany.; Bochinski T; CENTOGENE GmbH, 18055, Rostock, Germany.; Kaune A; CENTOGENE GmbH, 18055, Rostock, Germany.; Urzi A; CENTOGENE GmbH, 18055, Rostock, Germany.; Spohr TCLS; CENTOGENE GmbH, 18055, Rostock, Germany.; Viceconte N; CENTOGENE GmbH, 18055, Rostock, Germany.; Oppermann S; CENTOGENE GmbH, 18055, Rostock, Germany.; Alasel M; CENTOGENE GmbH, 18055, Rostock, Germany.; Ebadat S; CENTOGENE GmbH, 18055, Rostock, Germany.; Iftikhar S; CENTOGENE GmbH, 18055, Rostock, Germany.; Jasinge E; Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.; Elsayed SM; Medical Genetics Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.; Tomoum H; Department of Pediatrics, Faculty of Medicine, Ain Shams University, Cairo, Egypt.; Marzouk I; Alexandria University Children Hospital, Alexandria, Egypt.; Jalan AB; Navi Mumbai Institute of Research In Mental And Neurological Handicap (NIRMAN) / Pediatric Geneticist, Navi Mumbai, India.; Cerkauskaite A; Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Cerkauskiene R; Faculty of Medicine, Vilnius University, Vilnius, Lithuania.; Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.; Nadeem AM; Pediatric Gastroenterology, Hepatology and Nutrition, the Children's Hospital and Institute of Child Health, Lahore, Pakistan.; El Din Mahmoud IG; Cairo University Children Hospital (Abu El Reesh Children's Hospital), Metabolic, Neurology, Cairo, Egypt.; Mossad FA; Cairo University Children Hospital (Abu El Reesh Children's Hospital), Metabolic, Neurology, Cairo, Egypt.; Kamel M; Cairo University Children Hospital (Abu El Reesh Children's Hospital), Metabolic, Neurology, Cairo, Egypt.; Selim LA; Cairo University Children Hospital (Abu El Reesh Children's Hospital), Metabolic, Neurology, Cairo, Egypt.; Cheema HA; Pediatric Gastroenterology, Hepatology and Nutrition, the Children's Hospital and Institute of Child Health, Lahore, Pakistan.; Paknia O; CENTOGENE GmbH, 18055, Rostock, Germany.; Cozma C; CENTOGENE GmbH, 18055, Rostock, Germany.; Juaristi-Manrique C; CENTOGENE GmbH, 18055, Rostock, Germany.; Guatibonza-Moreno P; CENTOGENE GmbH, 18055, Rostock, Germany.; Böttcher T; CENTOGENE GmbH, 18055, Rostock, Germany.; Vogel F; CENTOGENE GmbH, 18055, Rostock, Germany.; Pinto-Basto J; CENTOGENE GmbH, 18055, Rostock, Germany.; Bertoli-Avella A; CENTOGENE GmbH, 18055, Rostock, Germany. aida.bertoli-avella@centogene.com.; Bauer P; CENTOGENE GmbH, 18055, Rostock, Germany.; Department of Oncology, University Medical Center Rostock, Rostock, Germany.
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Arquivos de Medicina, Volume: 29, Issue: 1, Pages: 11-19, Published: FEB 2015
Academic Journal
Betsalel OT; Metabolic Unit, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.; Rosenberg EHAlmeida LSKleefstra TSchwartz CEValayannopoulos VAbdul-Rahman OPoplawski NVilarinho LWolf Pden Dunnen JTJakobs CSalomons GS
Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Academic Journal
Clark AJ; J.C. Self Research Institute, Greenwood Genetic Center, 1 Gregor Mendel Circle, Greenwood, SC 29646, USA.; Rosenberg EHAlmeida LSWood TCJakobs CStevenson RESchwartz CESalomons GS
Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0340-6717 (Print) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE
Academic Journal
David D; Department of Human Genetics, National Institute of Health Dr Ricardo Jorge, Lisbon, Portugal, dezso.david@insa.min-saude.pt.; Almeida LSMaggi MAraújo CImreh SValentini GFekete GHaltrich I
Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE
Academic Journal
Ferreira F; Newborn Screening, Metabolic and Genetics Unit, Department of Human Genetics, National Institute of Health Dr Ricardo Jorge, 4000-055 Porto, Portugal.; Esteves SAlmeida LSGaspar Ada Costa CDJaneiro PBandeira AMartins ETeles ELGarcia PAzevedo LVilarinho L
Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-0038 (Electronic) Linking ISSN: 03781119 NLM ISO Abbreviation: Gene Subsets: MEDLINE
Academic Journal
Ferreira M; Centro de Genética Médica Jacinto de Magalhães, Instituto Nacional Saúde Ricardo Jorge, Porto, Portugal.; Evangelista TAlmeida LSMartins JMacario MCMartins EMoleirinho AAzevedo LVilarinho LSantorelli FM
Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE
Academic Journal
Almeida LS; Department of Clinical Chemistry, Metabolic Unit, VU medical center, Amsterdam, The Netherlands.; Salomons GSHogenboom FJakobs CSchoffelmeer AN
Publisher: Wiley Country of Publication: United States NLM ID: 8806914 Publication Model: Print Cited Medium: Print ISSN: 0887-4476 (Print) Linking ISSN: 08874476 NLM ISO Abbreviation: Synapse Subsets: MEDLINE
Academic Journal
Rosenberg EH; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam, The Netherlands.; Almeida LSKleefstra TdeGrauw RSYntema HGBahi NMoraine CRopers HHFryns JPdeGrauw TJJakobs CSalomons GS
Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0002-9297 (Print) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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[AR] Almeida, Lígia S
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