학술논문
'학술논문'
에서 검색결과 312건 | 목록
1~10
Academic Journal
Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L.; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C.; Ganesh, Vijay S.; Ma, Jialan; Ellingford, Jamie M.; Delage, Erwan; D’Souza, Elston N.; Dong, Shan; Adams, David R.; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E.; Berger, Seth I.; Bernstein, Jonathan A.; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J.; Burrage, Lindsay C.; Chapman, Kimberly; Coman, David J.; Compton, Alison G.; Cunningham, Chloe A.; D’Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C.; Dias, Kerith-Rae; Elias, Ellen R.; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L.; Gallacher, Lyndon; Genetti, Casie A.; Goriely, Anne; Grant, Christina L.; Haack, Tobias; Higgs, Jenny E.; Hinch, Anjali G.; Hurles, Matthew E.; Kuechler, Alma; Lachlan, Katherine L.; Lalani, Seema R.; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J.; Liebelt, Jan E.; Lindsay, Sarah; Lockhart, Paul J.; Ma, Alan S.; Macnamara, Ellen F.; Mansour, Sahar; Maurer, Taylor M.; Mendez, Hector R.; Metcalfe, Kay; Montgomery, Stephen B.; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O’Donoghue, Michael; O’Leary, Melanie; Palmer, Elizabeth E.; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L.; Reuter, Chloe M.; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A.; Sachdev, Rani; Shaw-Smith, Charles J.; Simons, Cas; Sisodiya, Sanjay M.; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S.; Tan, Tiong Yang; Tan, Natalie B.; Temple, Suzanna E. L.; Thorburn, David R.; Tifft, Cynthia J.; Uebergang, Eloise; VanNoy, Grace E.; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H.; Wedd, Laura; Wheeler, Matthew T.; White, Susan M.; Wojcik, Monica; Wolfe, Lynne A.; Wolfenson, Zoe; Wright, Caroline F.; Xiao, Changrui; Zocche, David; Rubenstein, John L.; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M.; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G.; Howson, Joanna M. M.; Sanders, Stephan J.; O’Donnell-Luria, Anne; Whiffin, Nicola
Nature: International weekly journal of science. 632(8026):832-840
Academic Journal
Revencu, N; Eijkelenboom, A; Bracquemart, C; Alhopuro, P; Armstrong, J; Baselga, E; Cesario, C; Dentici, ML; Eyries, M; Frisk, S; Karstensen, HG; Gene-Olaciregui, N; Kivirikko, S; Lavarino, C; Mero, IL; Michiels, R; Pisaneschi, E; Schoenewolf-Greulich, B; Wieland, I; Zenker, M; Vikkula, M
Orphanet journal of rare diseases. 19(1):213
Academic Journal
Meester, Josephina A. N.; Hebert, Anne; Bastiaansen, Maaike; Rabaut, Laura; Bastianen, Jarl; Boeckx, Nele; Ashcroft, Kathryn; Atwal, Paldeep S.; Benichou, Antoine; Billon, Clarisse; Blankensteijn, Jan D.; Brennan, Paul; Bucks, Stephanie A.; Campbell, Ian M.; Conrad, Solène; Curtis, Stephanie L.; Dasouki, Majed; Dent, Carolyn L.; Eden, James; Goel, Himanshu; Hartill, Verity; Houweling, Arjan C.; Isidor, Bertrand; Jackson, Nicola; Koopman, Pieter; Korpioja, Anita; Kraatari-Tiri, Minna; Kuulavainen, Liina; Lee, Kelvin; Low, Karen J.; Lu, Alan C.; McManus, Morgan L.; Oakley, Stephen P.; Oliver, James; Organ, Nicole M.; Overwater, Eline; Revencu, Nicole; Trainer, Alison H.; Trivedi, Bhavya; Turner, Claire L. S.; Whittington, Rebecca; Zankl, Andreas; Zentner, Dominica; Van Laer, Lut; Verstraeten, Aline; Loeys, Bart L.
npj Genomic Medicine. 9(1)
Academic Journal
Josephina A. N. Meester; Anne Hebert; Maaike Bastiaansen; Laura Rabaut; Jarl Bastianen; Nele Boeckx; Kathryn Ashcroft; Paldeep S. Atwal; Antoine Benichou; Clarisse Billon; Jan D. Blankensteijn; Paul Brennan; Stephanie A. Bucks; Ian M. Campbell; Solène Conrad; Stephanie L. Curtis; Majed Dasouki; Carolyn L. Dent; James Eden; Himanshu Goel; Verity Hartill; Arjan C. Houweling; Bertrand Isidor; Nicola Jackson; Pieter Koopman; Anita Korpioja; Minna Kraatari-Tiri; Liina Kuulavainen; Kelvin Lee; Karen J. Low; Alan C. Lu; Morgan L. McManus; Stephen P. Oakley; James Oliver; Nicole M. Organ; Eline Overwater; Nicole Revencu; Alison H. Trainer; Bhavya Trivedi; Claire L. S. Turner; Rebecca Whittington; Andreas Zankl; Dominica Zentner; Lut Van Laer; Aline Verstraeten; Bart L. Loeys
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-9 (2024)
Academic Journal
Alpaslan M; Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74, Brussels 1200, Belgium.; Fastré E; Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74, Brussels 1200, Belgium.; Mestre S; Department of vascular medicine, Hospital Saint-Eloi, University Hospital of Montpellier, Avenue Augustin Fliche 80, Montpellier 34090, France.; van Haeringen A; Leiden University Medical Center, Albinusdreef 2, Leiden 2333, the Netherlands.; Repetto GM; Clinica Alemana Universidad del Desarrollo, Av Plaza 680, Las Condes, Lo Barnechea, Región Metropolitana 7710167, Chile.; Keymolen K; Clinical Sciences, Research Group Reproduction and Genetics, Centre for Medical Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan 101, Brussels 1090, Belgium.; Boon LM; Center for Vascular Anomalies, Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, University of Louvain, Avenue Hippocrate 10, Brussels 1200, Belgium.; Belva F; Department of Lymphatic Surgery, AZ Sint-Maarten Hospital, VASCERN PPL European Reference Centre, Liersesteenweg 435, Mechelen 2800, Belgium.; Giacalone G; Department of Lymphatic Surgery, AZ Sint-Maarten Hospital, VASCERN PPL European Reference Centre, Liersesteenweg 435, Mechelen 2800, Belgium.; Revencu N; Center for Human Genetics, Cliniques Universitaires Saint-Luc, University of Louvain, Avenue Hippocrate 10, Brussels 1200, Belgium.; Sznajer Y; Center for Human Genetics, Cliniques Universitaires Saint-Luc, University of Louvain, Avenue Hippocrate 10, Brussels 1200, Belgium.; Riches K; University Hospitals of Derby and Burton NHS Foundation Trust, Uttoxeter Rd, Derby DE22 3NE, United Kingdom.; Keeley V; University Hospitals of Derby and Burton NHS Foundation Trust, Uttoxeter Rd, Derby DE22 3NE, United Kingdom.; University of Nottingham Medical School, Nottingham, East Block, Lenton, Nottingham NG7 2UH, United Kingdom.; Mansour S; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom.; South West Thames Regional Centre for Genomics, St. George's Universities Hospitals NHS Foundation Trust, Blackshaw Rd, London SW17 0QT, United Kingdom.; Gordon K; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom.; Dermatology and Lymphovascular Medicine, St. George's Universities NHS Foundation Trust, Blackshaw Rd, London SW17 0QT, United Kingdom.; Martin-Almedina S; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom.; Dobbins S; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom.; Ostergaard P; Cardiovascular and Genomics Research Institute, St. George's University of London, Blackshaw Rd, London SW17 0QT, United Kingdom.; Quere I; Department of vascular medicine, Hospital Saint-Eloi, University Hospital of Montpellier, Avenue Augustin Fliche 80, Montpellier 34090, France.; Brouillard P; Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74, Brussels 1200, Belgium.; Vikkula M; Human Molecular Genetics, de Duve Institute, University of Louvain, Avenue Hippocrate 74, Brussels 1200, Belgium.; WELBIO Department, WEL Research Institute, Avenue Pasteur, 6, Wavre 1300, Belgium.
Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE
Chen Y; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Dawes R; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Kim HC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Stenton SL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Walker S; Genomics England, London, UK.; Ljungdahl A; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; Lord J; Sheffield Institute for Translational Neuroscience (SITraN), University of Sheffield, Sheffield, UK.; Ganesh VS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.; Ma J; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Martin-Geary AC; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Lemire G; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; D'Souza EN; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Dong S; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; Ellingford JM; Genomics England, London, UK.; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicines and Health, University of Manchester, Manchester, UK.; Adams DR; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Allan K; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Bakshi M; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia.; Baldwin EE; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Berger SI; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Brown NJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Chapman K; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Compton AG; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Cunningham CA; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; D'Souza P; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Délot EC; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Dias KR; Neuroscience Research Australia, Sydney, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; Elias ER; Department of Pediatrics, Children's Hospital Colorado, Aurora, CO, USA.; University of Colorado School of Medicine, University of Colorado, Aurora, CO, USA.; Evans CA; Neuroscience Research Australia, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Ewans L; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Genomics and Inherited Disease Program, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; Ezell K; Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Fraser JL; Center for Genetic Medicine Research, Children's National Research Institute, Washington, DC, USA.; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Grant CL; Division of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.; Haack T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Center for Rare Diseases Tübingen, University of Tübingen, Tübingen, Germany.; Kuechler A; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Leitão E; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; Fevre AL; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Leventer RJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Royal Children's Hospital, Melbourne, VIC, Australia.; Liebelt JE; Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.; Repromed, Dulwich, SA, Australia.; Lockhart PJ; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Ma AS; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, NSW, Australia.; Specialty of Genomic Medicine, University of Sydney, Sydney, NSW, Australia.; Macnamara EF; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Maurer TM; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.; Mendez HR; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Montgomery SB; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Pathology, Department of Genetics, Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, USA.; Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200, Brussels, Belgium.; Institut des Maladies Rares, Cliniques Universitaires Saint-Luc, UCLouvain, B-1200, Brussels, Belgium.; Neumann S; Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; O'Leary M; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Palmer EE; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Phillips J; Division of Medical Genetics & Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.; Pitsava G; Institute for Clinical and Translational Research, University of California, Irvine, CA, USA.; Pysar R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, NSW, Australia.; Rehm HL; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Reuter CM; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; Revencu N; Center for Human Genetics, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, Belgium.; Riess A; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Rius R; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Roscioli T; Neuroscience Research Australia, Sydney, NSW, Australia.; Prince of Wales Clinical School, Faculty of Medicine, University of New South Wales, Sydney, NSW, Australia.; New South Wales Health Pathology Randwick Genomics, Prince of Wales Hospital, Sydney, NSW, Australia.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Sachdev R; Discipline of Paediatrics and Child Health, Faculty of Medicine and Health, University of New South Wales, Sydney, NSW, Australia.; Centre for Clinical Genetics, Sydney Children's Hospitals Network, Randwick, NSW, Australia.; Simons C; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.; UK and Chalfont Centre for Epilepsy, Bucks, UK.; Snell P; Bruce Lefroy Centre, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Clair L; Department of Clinical Genetics, Sydney Children's Hospitals Network Westmead, Sydney, NSW, Australia.; Stark Z; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Tan NB; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Temple SE; Department of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia.; School of Women's and Childrens's Health, University of New South Wales, Sydney, NSW, Australia.; Thorburn DR; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Tifft CJ; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Uebergang E; Murdoch Children's Research Institute, Melbourne, VIC, Australia.; VanNoy GE; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Vilain E; Institute for Clinical and Translational Science, University of California, Irvine, CA, USA.; Viskochil DH; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.; Wedd L; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Wheeler MT; GREGoR Stanford Site, Stanford University School of Medicine, Stanford, CA, USA.; Center for Undiagnosed Diseases, Stanford University School of Medicine, Stanford, CA, USA.; Department of Medicine - Cardiovascular Medicine, Stanford University School of Medicine, Stanford, CA, USA.; White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia.; Wojcik M; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Newborn Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Wolfe LA; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Wolfenson Z; Undiagnosed Disesases Program, National Human Genome Research Institute, Bethesda, MD, USA.; Xiao C; Department of Neurology, University of California, Irvine, CA, USA.; Zocche D; North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK.; Rubenstein JL; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; Markenscoff-Papadimitriou E; Department of Psychiatry, Langley Porter Psychiatric Institute, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; Fica SM; Department of Biochemistry, University of Oxford, Oxford, UK.; Baralle D; School of Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; National Institute for Health Research (NIHR) Southampton Biomedical Research Centre, University Hospital Southampton National Health Service (NHS) Foundation Trust, Southampton, UK.; Depienne C; Institute of Human Genetics, University Hospital Essen, University Duisburg-Essen, Essen, Germany.; MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Howson JM; Human Genetics Centre of Excellence, Novo Nordisk Research Centre, Oxford, UK.; Sanders SJ; Institute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.; Department of Psychiatry and Behavioral Sciences, UCSF Weill Institute for Neurosciences, University of California, San Francisco, USA.; O'Donnell-Luria A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA.; Whiffin N; Big Data Institute, University of Oxford, Oxford, UK.; Centre for Human Genetics, University of Oxford, Oxford, UK.; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Brouillard, P.; Potier, L.; Boon, L.M.; Vikkula, M.; Murtomäki, A.; Leppänen, V.-M.; Hyytiäinen, M.; Anisimov, A.; Alitalo, K.; Mestre, S.; Quéré, I.; Revencu, N.; Greene, A.; Salo, M.H.; Hinttala, R.; Eklund, L.
In: Journal of Clinical Investigation . (Journal of Clinical Investigation, 15 July 2024, 134(14))
Academic Journal
De Bortoli M; Human Molecular Genetics, de Duve Institute, UCLouvain, Brussels, Belgium.; Ivars M; Department of Dermatology, VASCERN VASCA European Reference Center, Hospital Sant Joan de Deu, Barcelona, Spain.; Revencu N; Center for Human Genetics, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.; Nassogne MC; Pediatric Neurology Unit, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.; Lavarino C; Laboratory of Molecular Oncology, VASCERN VASCA European Reference Center, Pediatric Cancer Center Barcelona, Hospital Sant Joan de Déu, Barcelona, Spain.; Paco S; Laboratory of Molecular Oncology, VASCERN VASCA European Reference Center, Pediatric Cancer Center Barcelona, Hospital Sant Joan de Déu, Barcelona, Spain.; Lammens M; Department of Pathology, Antwerp University Hospital, University of Antwerp, Edegem, Belgium.; Service d'anatomopathologie, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.; Renders A; Rehabilitation Department, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.; Dumitriu D; Pediatric Radiology Unit, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.; Helaers R; Human Molecular Genetics, de Duve Institute, UCLouvain, Brussels, Belgium.; Boon LM; Human Molecular Genetics, de Duve Institute, UCLouvain, Brussels, Belgium.; Center for Vascular Anomalies, Division of Plastic Surgery, VASCERN VASCA European Reference Center, Cliniques Universitaires Saint Luc, UCLouvain, Brussels, Belgium.; Baselga E; Department of Dermatology, VASCERN VASCA European Reference Center, Hospital Sant Joan de Deu, Barcelona, Spain.; Vikkula M; Human Molecular Genetics, de Duve Institute, UCLouvain, Brussels, Belgium.; WELBIO department, WEL Research Institute, Wavre, Belgium.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Academic Journal
Seront E; Institut Roi Albert II, Department of Medical Oncology, Center for Vascular Anomalies, Saint-Luc University Hospital, VASCERN VASCA European Reference Centre, UCLouvain, Brussels, Belgium.; Froidure A; Department of Pneumology, Center for Vascular Anomalies, Saint-Luc University Hospital, VASCERN VASCA European Reference Centre, UCLouvain, Brussels, Belgium.; Revencu N; Center for Human Genetics, Center for Vascular Anomalies, Saint-Luc University Hospital, VASCERN VASCA European Reference Centre, UCLouvain, Brussels, Belgium.; Dekeuleneer V; Division of Plastic Surgery, Center for Vascular Anomalies, Saint-Luc University Hospital, VASCERN VASCA European Reference Centre, UCLouvain, Cliniques Universitaires St Luc, Avenue Hippocrate 10, Brussels, B-1200, Belgium.; Clapuyt P; Department of Pediatric Radiology, Center for Vascular Anomalies, Saint-Luc University Hospital, VASCERN VASCA European Reference Centre, UCLouvain, Brussels, Belgium.; Dumitriu D; Department of Pediatric Radiology, Center for Vascular Anomalies, Saint-Luc University Hospital, VASCERN VASCA European Reference Centre, UCLouvain, Brussels, Belgium.; Vikkula M; Human Molecular Genetics, De Duve Institute, UCLouvain, Brussels, Belgium.; WELBIO Department, WEL Research Institute, Avenue Pasteur, 6, Wavre, 1300, Belgium.; Boon LM; Division of Plastic Surgery, Center for Vascular Anomalies, Saint-Luc University Hospital, VASCERN VASCA European Reference Centre, UCLouvain, Cliniques Universitaires St Luc, Avenue Hippocrate 10, Brussels, B-1200, Belgium. Laurence.boon@saintluc.uclouvain.be.; Human Molecular Genetics, De Duve Institute, UCLouvain, Brussels, Belgium. Laurence.boon@saintluc.uclouvain.be.
Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
Academic Journal
Lagneaux E; Division of Adult Hematology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), Brussels, Belgium.; Boon LM; Center for Vascular Anomalies, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), VASCERN VASCA European Reference Centre, Brussels, Belgium.; Division of Plastic Surgery, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), VASCERN VASCA European Reference Centre, Brussels, Belgium.; Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.; Revencu N; Center for Vascular Anomalies, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), VASCERN VASCA European Reference Centre, Brussels, Belgium.; Department of Clinical Genetics, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), VASCERN VASCA European Reference Centre, Brussels, Belgium.; Vikkula M; Center for Vascular Anomalies, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), VASCERN VASCA European Reference Centre, Brussels, Belgium.; Human Molecular Genetics, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.; Hermans C; Division of Adult Hematology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), Brussels, Belgium.; Center for Vascular Anomalies, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain (UCLouvain), VASCERN VASCA European Reference Centre, Brussels, Belgium.
Publisher: Elsevier Country of Publication: United States NLM ID: 101703775 Publication Model: eCollection Cited Medium: Internet ISSN: 2475-0379 (Electronic) Linking ISSN: 24750379 NLM ISO Abbreviation: Res Pract Thromb Haemost Subsets: PubMed not MEDLINE
검색 결과 제한하기
제한된 항목
[검색어] Revencu, N.
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어