학술논문
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'학술논문'
에서 검색결과 104건 | 목록
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Academic Journal
In Surface Science 1999 427:208-213
Academic Journal
Al-Jawahiri, R; Foroutan, A; Kerkhof, J; McConkey, H; Levy, M; Haghshenas, S; Rooney, K; Turner, J; Shears, D; Holder, M; Lefroy, H; Castle, B; Reis, LM; Semina, EV; Lachlan, K; Chandler, K; Wright, T; Clayton-Smith, J; Hug, FP; Pitteloud, N; Bartoloni, L; Hoffjan, S; Park, S-M; Thankamony, A; Lees, M; Wakeling, E; Naik, S; Hanker, B; Girisha, KM; Agolini, E; Giuseppe, Z; Alban, Z; Tessarech, M; Keren, B; Afenjar, A; Zweier, C; Reis, A; Smol, T; Tsurusaki, Y; Nobuhiko, O; Sekiguchi, F; Tsuchida, N; Matsumoto, N; Kou, I; Yonezawa, Y; Ikegawa, S; Callewaert, B; Freeth, M; Kleinendorst, L; Donaldson, A; Alders, M; De Paepe, A; Sadikovic, B; McNeill, A; Nickerson, D; Bamshad, M; Leal, S; Ambrose, JC; Arumugam, P; Bevers, R; Bleda, M; Boardman-Pretty, F; Boustred, CR; Brittain, H; Caulfield, MJ; Chan, GC; Elgar, G; Fowler, T; Giess, A; Hamblin, A; Henderson, S; Hubbard, TJP; Jackson, R; Jones, LJ; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Leigh, SEA; Leong, IUS; Lopez, JF; FionaMaleady-Crowe; McEntagart, M; Minneci, F; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; O’Donovan, P; Odhams, CA; Patch, C; Pereira, MB; Perez-Gil, D; Pullinger, J; TahrimaRahim; Rendon, A; TimRogers; Savage, K; Sawant, K; Scott, RH; Siddiq, A; Sieghart, A; Smith, SC; Sosinsky, A; Stuckey, A; Tanguy, M; Taylor Tavares, AL; Thomas, ERA; Thompson, SR; Tucci, A; Welland, MJ; Williams, E; Witkowska, K; Wood, SM
GENETICS IN MEDICINE
Academic Journal
Iqbal, Maria; Maroofian, Reza; Çavdarli, Büşranur; Riccardi, Florence; Field, Michael; Banka, Siddharth; Bubshait, Dalal; Li, Yun; Hertecant, Jozef; Baig, Shahid; Dyment, David; Efthymiou, Stephanie; Abdullah, Uzma; Makhdoom, Ehtisham; Ali, Zafar; Scherf de Almeida, Tobias; Molinari, Florence; Mignon-Ravix, Cécile; Chabrol, Brigitte; Antony, Jayne; Ades, Lesley; Pagnamenta, Alistair; Jackson, Adam; Douzgou, Sofia; Ambrose, J; Arumugam, P; Bleda, M; Boardman-Pretty, F; Boustred, C; Brittain, H; Caulfield, M; Chan, G; Fowler, T; Giess, A; Hamblin, A; Henderson, S; Hubbard, T; Jackson, R; Jones, L; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Leigh, S; Leong, I; Lopez, F; Maleady-Crowe, F; Moutsianas, L; Mueller, M; Murugaesu, N; Need, A; O’donovan, P; Odhams, C; Patch, C; Perez-Gil, D; Pereira, M; Pullinger, J; Rahim, T; Rendon, A; Rogers, T; Savage, K; Sawant, K; Scott, R; Siddiq, A; Sieghart, A; Smith, S; Sosinsky, A; Stuckey, A; Tanguy, M; Thomas, E; Thompson, S; Tucci, A; Walsh, E; Welland, M; Williams, E; Witkowska, K; Wood, S; Beetz, Christian; Karageorgou, Vasiliki; Vona, Barbara; Rad, Aboulfazl; Baig, Jamshaid; Sultan, Tipu; Alvi, Javeria; Maqbool, Shazia; Rahman, Fatima; Toosi, Mehran; Ashrafzadeh, Farah; Imannezhad, Shima; Karimiani, Ehsan; Sarwar, Yasra; Khan, Sheraz; Jameel, Muhammad; Noegel, Angelika; Budde, Birgit; Altmüller, Janine; Motameny, Susanne; Höhne, Wolfgang; Houlden, Henry; Nürnberg, Peter; Wollnik, Bernd; Villard, Laurent; Alkuraya, Fowzan; Osmond, Matthew; Hussain, Muhammad; Yigit, Gökhan
Genet Med
Genomics England Research Consortium 2021, 'Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01260-4
Genetics in Medicine
Genomics England Research Consortium 2021, 'Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies', Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01260-4
Genetics in Medicine
Academic Journal
Jackson, A; Lin, SJ; Jones, EA; Chandler, KE; Orr, D; Moss, C; Haider, Z; Ryan, G; Holden, S; Harrison, M; Burrows, N; Jones, WD; Loveless, M; Petree, C; Stewart, H; Low, K; Donnelly, D; Lovell, S; Drosou, K; Ambrose, JC; Arumugam, P; Bevers, R; Bleda, M; Boardman-Pretty, F; Boustred, CR; Brittain, H; Brown, MA; Caulfield, MJ; Chan, GC; Giess, A; Griffin, JN; Hamblin, A; Henderson, S; Hubbard, TJP; Jackson, R; Jones, LJ; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Lakey, A; Leigh, SEA; Leong, IUS; Lopez, FJ; Maleady-Crowe, F; McEntagart, M; Minneci, F; Mitchell, J; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; O‘Donovan, P; Odhams, CA; Patch, C; Perez-Gil, D; Pereira, MB; Pullinger, J; Rahim, T; Rendon, A; Rogers, T; Savage, K; Sawant, K; Scott, RH; Siddiq, A; Sieghart, A; Smith, SC; Sosinsky, A; Stuckey, A; Tanguy, M; Taylor Tavares, AL; Thomas, ERA; Thompson, SR; Tucci, A; Welland, MJ; Williams, E; Witkowska, K; Wood, SM; Zarowiecki, M; Riess, O; Haack, TB; Graessner, H; Zurek, B; Ellwanger, K; Ossowski, S; Demidov, G; Sturm, M; Schulze-Hentrich, JM; Schüle, R; Kessler, C; Wayand, M; Synofzik, M; Wilke, C; Traschütz, A; Schöls, L; Hengel, H; Heutink, P; Brunner, H; Scheffer, H; Hoogerbrugge, N
Academic Journal
In Gynécologie Obstétrique & Fertilité 2002 30(5):390-393
Academic Journal
Gibson, JT; Huang, M; Shenelli Croos Dabrera, M; Shukla, K; Rothe, H; Hilbert, P; Deltas, C; Storey, H; Lipska-Ziętkiewicz, BS; Chan, MMY; Sadeghi-Alavijeh, O; Gale, DP; Ambrose, JC; Arumugam, P; Baple, EL; Bleda, M; Boardman-Pretty, F; Boissiere, JM; Boustred, CR; Brittain, H; Caulfield, MJ; Chan, GC; Craig, CEH; Daugherty, LC; de Burca, A; Devereau, A; Elgar, G; Foulger, RE; Fowler, T; Furió-Tarí, P; Giess, A; Hackett, JM; Halai, D; Hamblin, A; Henderson, S; Holman, JE; Hubbard, TJP; Ibáñez, K; Jackson, R; Jones, LJ; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Lawson, K; Leigh, SEA; Leong, IUS; Lopez, FJ; Maleady-Crowe, F; Mason, J; McDonagh, EM; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; Odhams, CA; Orioli, A; Patch, C; Perez-Gil, D; Pereira, MB; Polychronopoulos, D; Pullinger, J; Rahim, T; Rendon, A; Riesgo-Ferreiro, P; Rogers, T; Ryten, M; Savage, K; Sawant, K; Scott, RH; Siddiq, A; Sieghart, A; Smedley, D; Smith, KR; Smith, SC; Sosinsky, A; Spooner, W; Stevens, HE; Stuckey, A; Sultana, R; Tanguy, M; Thomas, ERA; Thompson, SR; Tregidgo, C; Tucci, A; Walsh, E; Watters, SA; Welland, MJ; Williams, E; Witkowska, K; Wood, SM; Zarowiecki, M; Cerkauskaite, A; Savige, J
Sci Rep
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Scientific Reports
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)
Scientific Reports
Academic Journal
Shoemark, Amelia; Griffin, Helen; Wheway, Gabrielle; Hogg, Claire; Lucas, Jane S; Genomics England Research, Consortium; Camps, Carme; Taylor, Jenny; Carroll, Mary; Loebinger, Michael R; Chalmers, James D; Morris-Rosendahl, Deborah; Mitchison, Hannah M; Brown, D; De Soyza, Anthony; Ambrose, JC; Arumugam, P; Bevers, R; Bleda, M; Boardman-Pretty, F; Boustred, CR; Brittain, H; Caulfield, MJ; Chan, GC; Fowler, T; Giess, A; Hamblin, A; Henderson, S; Hubbard, TJP; Jackson, R; Jones, LJ; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Leigh, SEA; Leong, IUS; Lopez, FJ; Maleady-Crowe, F; McEntagart, M; Minneci, F; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; O'Donovan, P; Odhams, CA; Patch, C; Perez-Gil, D; Pereira, MB; Pullinger, J; Rahim, T; Rendon, A; Rogers, T; Savage, K; Sawant, K; Scott, RH; Siddiq, A; Sieghart, A; Smith, SC; Sosinsky, A; Stuckey, A; Tanguy, M; Taylor Tavares, AL; Thomas, ERA; Thompson, SR; Tucci, A; Welland, MJ; Williams, E; Witkowska, K; Wood, SM
Academic Journal
Lin, SJ; Vona, B; Barbalho, PG; Kaiyrzhanov, R; Maroofian, R; Petree, C; Severino, M; Stanley, V; Varshney, P; Bahena, P; Alzahrani, F; Alhashem, A; Pagnamenta, AT; Aubertin, G; Estrada-Veras, JI; Hernández, HAD; Mazaheri, N; Oza, A; Thies, J; Renaud, DL; Dugad, S; McEvoy, J; Sultan, T; Pais, LS; Tabarki, B; Villalobos-Ramirez, D; Rad, A; Ambrose, JC; Arumugam, P; Bleda, M; Boardman-Pretty, F; Boustred, CR; Brittain, H; Caulfield, MJ; Chan, GC; Fowler, T; Giess, A; Hamblin, A; Henderson, S; Hubbard, TJP; Jackson, R; Jones, LJ; Kasperaviciute, D; Kayikci, M; Kousathanas, A; Lahnstein, L; Leigh, SEA; Leong, IUS; Lopez, FJ; Maleady-Crowe, F; Moutsianas, L; Mueller, M; Murugaesu, N; Need, AC; O‘Donovan, P; Odhams, CA; Patch, C; Perez-Gil, D; Pereira, MB; Pullinger, J; Rahim, T; Rendon, A; Rogers, T; Savage, K; Sawant, K; Scott, RH; Siddiq, A; Sieghart, A; Smith, SC; Sosinsky, A; Stuckey, A; Tanguy, M; Thomas, ERA; Thompson, SR; Tucci, A; Walsh, E; Welland, MJ; Williams, E; Witkowska, K; Wood, SM; Galehdari, H; Ashrafzadeh, F; Sahebzamani, A; Saeidi, K; Torti, E; Elloumi, HZ; Mora, S; Palculict, TB; Yang, H; Wren, JD; Fowler, B; Joshi, M; Behra, M; Burgess, SM; Nath, SK; Hanna, MG; Kenna, M; Merritt, JL; Houlden, H; Karimiani, EG
Academic Journal
Trébéden-Negre, H; Vieillard, V; Rosenzwajg, M; Garderet, L; Cherai, M; Nguyen-Quoc, S; Tanguy, M; Norol, F
Bone Marrow Transplantation. 52:480-483
Academic Journal
Journal of Physics D: Applied Physics; 10/ 7/2000, Vol. 33 Issue 19, p2373-2378, 6p
Academic Journal
Seguin P; Le Rouzo A; Tanguy M; Guillou YM; Feuillu A; Mallédant Y; Seguin, P; Le Rouzo, A; Tanguy, M; Guillou, Y M; Feuillu, A; Mallédant, Y
Critical Care Medicine; 2000 Mar, Vol. 28 Issue 3, p703-706, 4p
Academic Journal
Tanguy, M; Queguiner, M; Oswald, Isabelle P.; Guerre, P; Grosjean, F; Cariolet, R; Burel, Christine; Fravalo, P
International Conference on the Epidemiology and Control of Biological, Chemical and Physical Hazards in Pigs and Pork. :332-336
Academic Journal
Choi DJ; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA.; Armstrong G; Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.; Lozzi B; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA.; Vijayaraghavan P; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Plon SE; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, USA.; Wong TC; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Boerwinkle E; The University of Texas Health Science Center School of Public Health, Houston, TX, USA.; Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Chen HC; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA.; Gibbs RA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Ostrom QT; Department of Neurosurgery, Duke University School of Medicine, Durham, NC, USA.; Melin B; Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden.; Deneen B; Center for Cell and Gene Therapy, Baylor College of Medicine, Houston, TX, USA.; Bondy ML; Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA, USA.; Bainbridge MN; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.; Amos CI; Barnholtz-Sloan JS; Bernstein JL; Claus EB; Houlston RS; Il'yasova D; Jenkins RB; Johansen C; Lachance D; Lai R; Melin BS; Merrell RT; Olson SH; Sadetzki S; Schildkraut J; Shete S; Ambrose JC; Arumugam P; Bevers R; Bleda M; Boardman-Pretty F; Boustred CR; Brittain H; Brown MA; Caulfield MJ; Chan GC; Giess A; Griffin JN; Hamblin A; Henderson S; Hubbard TJP; Jackson R; Jones LJ; Kasperaviciute D; Kayikci M; Kousathanas A; Lahnstein L; Lakey A; Leigh SEA; Leong IUS; Lopez FJ; Maleady-Crowe F; McEntagart M; Minneci F; Mitchell J; Moutsianas L; Mueller M; Murugaesu N; Need AC; O'Donovan P; Odhams CA; Patch C; Perez-Gil D; Pereira MB; Pullinger J; Rahim T; Rendon A; Rogers T; Savage K; Sawant K; Scott RH; Siddiq A; Sieghart A; Smith SC; Sosinsky A; Stuckey A; Tanguy M; Taylor Tavares AL; Thomas ERA; Thompson SR; Tucci A; Welland MJ; Williams E; Witkowska K; Wood SM; Zarowiecki M
Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101653440 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2375-2548 (Electronic) Linking ISSN: 23752548 NLM ISO Abbreviation: Sci Adv Subsets: MEDLINE
Academic Journal
Shoemark A; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee, UK a.shoemark@dundee.ac.uk.; Royal Brompton Hospital and NHLI, Imperial College London, London, UK.; Newcastle University and NIHR Biomedical Research Centre for Ageing, Freeman Hospital, Newcastle upon Tyne, UK.; Griffin H; Primary Immunodeficiency Group, Newcastle University Translational and Clinical Research Institute, Newcastle upon Tyne, UK.; Newcastle University and NIHR Biomedical Research Centre for Ageing, Freeman Hospital, Newcastle upon Tyne, UK.; Wheway G; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK.; Hogg C; Royal Brompton Hospital and NHLI, Imperial College London, London, UK.; Lucas JS; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Clinical and Experimental Sciences Academic Unit, University of Southampton Faculty of Medicine, Southampton, UK.; Camps C; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Clinical Informatics Research Office, John Radcliffe Hospital, Oxford, UK.; Taylor J; Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK.; NIHR Oxford Biomedical Research Centre, Clinical Informatics Research Office, John Radcliffe Hospital, Oxford, UK.; Carroll M; Primary Ciliary Dyskinesia Centre, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Loebinger MR; Royal Brompton Hospital and NHLI, Imperial College London, London, UK.; Chalmers JD; Respiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee, UK.; Morris-Rosendahl D; Clinical Genetics and Genomics, Royal Brompton Hospital, Guy's and St Thomas' NHS Foundation Trust and NHLI, Imperial College London, London, UK.; Mitchison HM; Genetics and Genomic Medicine Department, University College London, UCL Great Ormond Street Institute of Child Health, London, UK.; These authors contributed equally to this manuscript.; De Soyza A; Newcastle University and NIHR Biomedical Research Centre for Ageing, Freeman Hospital, Newcastle upon Tyne, UK.; These authors contributed equally to this manuscript.; Brown D; Ambrose JC; Arumugam P; Bevers R; Bleda M; Boardman-Pretty F; Boustred CR; Brittain H; Caulfield MJ; Chan GC; Fowler T; Giess A; Hamblin A; Henderson S; Hubbard TJP; Jackson R; Jones LJ; Kasperaviciute D; Kayikci M; Kousathanas A; Lahnstein L; Leigh SEA; Leong IUS; Lopez FJ; Maleady-Crowe F; McEntagart M; Minneci F; Moutsianas L; Mueller M; Murugaesu N; Need AC; O'Donovan P; Odhams CA; Patch C; Perez-Gil D; Pereira MB; Pullinger J; Rahim T; Rendon A; Rogers T; Savage K; Sawant K; Scott RH; Siddiq A; Sieghart A; Smith SC; Sosinsky A; Stuckey A; Tanguy M; Taylor Tavares AL; Thomas ERA; Thompson SR; Tucci A; Welland MJ; Williams E; Witkowska K; Wood SM
Publisher: European Respiratory Society Country of Publication: England NLM ID: 8803460 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 1399-3003 (Electronic) Linking ISSN: 09031936 NLM ISO Abbreviation: Eur Respir J Subsets: MEDLINE
Academic Journal
Annales francaises d'anesthesie et de reanimation. 17(8):899-899
Academic Journal
Marty, J; Martin, C; d'Athis, F; Bironneau, E; Charpentier, C; Decun, JF; Delhumeau, A; Eledjam, JJ; Fraisse, F; Joubert, P; Kienlen, J; Laxenaire, MC; Loubert, G; Malledant, Y; Pottecher, T; Sadoumy, F; Schoeffler, P; Tanguy, M; Virenque, C
Annales francaises d'anesthesie et de reanimation. 16(6):805-805
Academic Journal
Annales francaises d'anesthesie et de reanimation. 15(6):935-935
Academic Journal
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[AR] Tanguy, M
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