يعرض 1 - 10 نتائج من 54 نتيجة بحث عن '"Machado, RD"', وقت الاستعلام: 1.00s تنقيح النتائج
  1. 1
    دورية أكاديمية

    وصف الملف: application/pdf

    العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115602/6/Welch%20et%20al%202023_accepted.pdfTest; Welch, CL; Aldred, MA; Balachandar, S; Dooijes, D; Eichstaedt, CA; Graf, S; Houweling, AC; Machado, RD; Pandya, D; Prapa, M; et al. Welch, CL; Aldred, MA; Balachandar, S; Dooijes, D; Eichstaedt, CA; Graf, S; Houweling, AC; Machado, RD; Pandya, D; Prapa, M; Shaukat, M; Southgate, L; Tenorio-Castano, J; ClinGen PH VCEP; Chung, WK; International Consortium for Genetic Studies in Pulmonary Arteri (2023) Defining the Clinical Validity of Genes Reported to Cause Pulmonary Arterial Hypertension. Genet Med, 25 (11). p. 100925. ISSN 1530-0366 https://doi.org/10.1016/j.gim.2023.100925Test SGUL Authors: Southgate, Laura

  2. 2
    دورية أكاديمية

    وصف الملف: application/pdf

    العلاقة: https://openaccess.sgul.ac.uk/id/eprint/113689/6/jmedgenet-2021-107831.full.pdfTest; Machado, RD; Welch, CL; Haimel, M; Bleda, M; Colglazier, E; Coulson, JD; Debeljak, M; Ekstein, J; Fineman, JR; Golden, WC; et al. Machado, RD; Welch, CL; Haimel, M; Bleda, M; Colglazier, E; Coulson, JD; Debeljak, M; Ekstein, J; Fineman, JR; Golden, WC; Griffin, EL; Hadinnapola, C; Harris, MA; Hirsch, Y; Hoover-Fong, JE; Nogee, L; Romer, LH; Vesel, S; NIHR BioResource - Rare Diseases; Gräf, S; Morrell, NW; Southgate, L; Chung, WK (2022) Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterised by extreme morbidity and mortality. J Med Genet, 59 (9). pp. 906-911. ISSN 1468-6244 https://doi.org/10.1136/jmedgenet-2021-107831Test SGUL Authors: Southgate, Laura

  3. 3
    دورية أكاديمية

    وصف الملف: application/pdf

    العلاقة: https://openaccess.sgul.ac.uk/id/eprint/112830/6/CIRCGEN.120.003155.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/112830/1/CIRCGEN.120.003155.pdfTest; Swietlik, EM; Greene, D; Zhu, N; Megy, K; Cogliano, M; Rajaram, S; Pandya, D; Tilly, T; Lutz, KA; Welch, CCL; et al. Swietlik, EM; Greene, D; Zhu, N; Megy, K; Cogliano, M; Rajaram, S; Pandya, D; Tilly, T; Lutz, KA; Welch, CCL; Pauciulo, MW; Southgate, L; Martin, JM; Treacy, CM; Penkett, CJ; Stephens, JC; Bogaard, HJ; Church, C; Coghlan, G; Coleman, AW; Condliffe, R; Eichstaedt, CA; Eyries, M; Gall, H; Ghio, S; Girerd, B; Grünig, E; Holden, S; Howard, L; Humbert, M; Kiely, DG; Kovacs, G; Lordan, J; Machado, RD; Mackenzie Ross, RV; McCabe, C; Moledina, S; Montani, D; Olschewski, H; Pepke-Zaba, J; Price, L; Rhodes, CJ; Seeger, W; Soubrier, F; Suntharalingam, J; Toshner, MR; Vonk Noordegraaf, A; Wharton, J; Wild, JM; Wort, SJ; Lawrie, A; Wilkins, MR; Trembath, RC; Shen, Y; Chung, WK; Swift, AJ; Nichols, WC; Morrell, NW; Gräf, S (2021) Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension. Circ Genom Precis Med, 14 (1). ISSN 2574-8300 https://doi.org/10.1161/CIRCGEN.120.003155Test SGUL Authors: Southgate, Laura

  4. 4
    دورية أكاديمية

    وصف الملف: application/pdf

    العلاقة: https://openaccess.sgul.ac.uk/id/eprint/112651/1/Gelinas%20et%20al_Genes%202020.pdfTest; Gelinas, SM; Benson, CE; Khan, MA; Berger, RMF; Trembath, RC; Machado, RD; Southgate, L (2020) Whole Exome Sequence Analysis Provides Novel Insights into the Genetic Framework of Childhood-Onset Pulmonary Arterial Hypertension. Genes (Basel), 11 (11). p. 1328. ISSN 2073-4425 https://doi.org/10.3390/genes11111328Test SGUL Authors: Southgate, Laura

  5. 5
    دورية أكاديمية

    المؤلفون: Rhodes, CJ, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, MW, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Knight, J, Hanscombe, KB, Karnes, JH, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, EM, Ahmad, F, Amouyel, P, Archer, SL, Argula, R, Austin, ED, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, HJ, Burger, CD, Chakinala, M, Church, C, Coghlan, JG, Condliffe, R, Corris, PA, Danesino, C, Debette, S, Elliott, CG, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, RP, Frost, A, Garcia, JGN, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Harley, J, He, H, Hill, NS, Hirsch, R, Houweling, AC, Howard, LS, Ivy, D, Kiely, DG, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, RD, Ross, RV, Marsolo, K, Martin, LJ, Moledina, S, Montani, D, Nathan, SD, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, RJ, Ouwehand, WH, Peacock, AJ, Pepke-Zaba, J, Rehman, Z, Robbins, I, Roden, DM, Rosenzweig, EB, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, CM, Simms, RW, Simon, M, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, AY, Thenappan, T, Torres, F, Toshner, MR, Treacy, CM, Noordegraaf, A, Waisfisz, Q, Walsworth, AK, Walter, RE, Wharton, J, White, RJ, Wilt, J, Wort, SJ, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D-A, Prokopenko, I, Kittles, R, Gräf, S, Nichols, WC, Trembath, RC, Desai, AA, Morrell, NW, Wilkins, MR, Consortium, UK NIHR Bioresource Rare Diseases, Consortium, UK PAH Cohort Study, Consortium, US PAH Biobank, McCarthy, M

  6. 6
    دورية أكاديمية

    وصف الملف: application/pdf; application/vnd.ms-excel

    العلاقة: https://openaccess.sgul.ac.uk/id/eprint/109736/1/s41467-018-03672-4.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/109736/7/Graf%20et%20al.%202018%20%28Supplementary%20Info%29.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/109736/12/Description%20of%20additional%20supplementary%20files.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/109736/17/Peer%20review%20file.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/109736/22/Supplementary%20data%202.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/109736/23/Supplementary%20data%201.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/109736/24/Supplementary%20data%203.xlsxTest; https://openaccess.sgul.ac.uk/id/eprint/109736/25/Supplementary%20data%204.xlsxTest; Gräf, S; Haimel, M; Bleda, M; Hadinnapola, C; Southgate, L; Li, W; Hodgson, J; Liu, B; Salmon, RM; Southwood, M; et al. Gräf, S; Haimel, M; Bleda, M; Hadinnapola, C; Southgate, L; Li, W; Hodgson, J; Liu, B; Salmon, RM; Southwood, M; Machado, RD; Martin, JM; Treacy, CM; Yates, K; Daugherty, LC; Shamardina, O; Whitehorn, D; Holden, S; Aldred, M; Bogaard, HJ; Church, C; Coghlan, G; Condliffe, R; Corris, PA; Danesino, C; Eyries, M; Gall, H; Ghio, S; Ghofrani, H-A; Gibbs, JSR; Girerd, B; Houweling, AC; Howard, L; Humbert, M; Kiely, DG; Kovacs, G; MacKenzie Ross, RV; Moledina, S; Montani, D; Newnham, M; Olschewski, A; Olschewski, H; Peacock, AJ; Pepke-Zaba, J; Prokopenko, I; Rhodes, CJ; Scelsi, L; Seeger, W; Soubrier, F; Stein, DF; Suntharalingam, J; Swietlik, EM; Toshner, MR; van Heel, DA; Vonk Noordegraaf, A; Waisfisz, Q; Wharton, J; Wort, SJ; Ouwehand, WH; Soranzo, N; Lawrie, A; Upton, PD; Wilkins, MR; Trembath, RC; Morrell, NW (2018) Identification of rare sequence variation underlying heritable pulmonary arterial hypertension. Nat Commun, 9 (1). p. 1416. ISSN 2041-1723 https://doi.org/10.1038/s41467-018-03672-4Test SGUL Authors: Southgate, Laura

  7. 7
    دورية أكاديمية

    المؤلفون: Rhodes, CJ, Batai, K, Bleda, M, Haimel, M, Southgate, L, Germain, M, Pauciulo, MW, Hadinnapola, C, Aman, J, Girerd, B, Arora, A, Robbins, I, Roden, DM, Rosenzweig, EB, Saydain, G, Scelsi, L, Schilz, R, Seeger, W, Shaffer, CM, Simms, RW, Simon, M, Walter, RE, Sitbon, O, Suntharalingam, J, Tang, H, Tchourbanov, AY, Thenappan, T, Torres, F, Toshner, MR, Treacy, CM, Noordegraaf, AV, Waisfisz, Q, Wharton, J, Walsworth, AK, White, RJ, Wilt, J, Wort, SJ, Yung, D, Lawrie, A, Humbert, M, Soubrier, F, Trégouët, D-A, Knight, J, Prokopenko, I, Kittles, R, Gräf, S, Nichols, WC, Trembath, RC, Desai, AA, Morrell, NW, Wilkins, MR, UK NIHR BioResource Rare Diseases Consortium, UK PAH Cohort Study Consortium, Hanscombe, KB, US PAH Biobank Consortium, Karnes, JH, Kaakinen, M, Gall, H, Ulrich, A, Harbaum, L, Cebola, I, Ferrer, J, Lutz, K, Swietlik, EM, Ahmad, F, Amouyel, P, Archer, SL, Argula, R, Austin, ED, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Bogaard, HJ, Burger, CD, Chakinala, M, Church, C, Coghlan, JG, Condliffe, R, Corris, PA, Danesino, C, Debette, S, Elliott, CG, Elwing, J, Eyries, M, Fortin, T, Franke, A, Frantz, RP, Frost, A, Garcia, JGN, Ghio, S, Ghofrani, H-A, Gibbs, JSR, Harley, J, He, H, Hill, NS, Hirsch, R, Houweling, AC, Howard, LS, Ivy, D, Kiely, DG, Klinger, J, Kovacs, G, Lahm, T, Laudes, M, Machado, RD, Ross, RVM, Marsolo, K, Martin, LJ, Moledina, S, Montani, D, Nathan, SD, Newnham, M, Olschewski, A, Olschewski, H, Oudiz, RJ, Ouwehand, WH, Peacock, AJ, Pepke-Zaba, J, Rehman, Z

    المساهمون: British Heart Foundation, Wellcome Trust, Medical Research Council (MRC)

    المصدر: 238 ; 227

    العلاقة: Lancet Respiratory Medicine; http://hdl.handle.net/10044/1/65072Test; https://doi.org/10.1016/S2213-2600Test(18)30409-0; FS/15/59/31839; 205915/Z/17/Z; WT205915; MR/J011711/1

  8. 8
    دورية أكاديمية

    المساهمون: British Heart Foundation

    المصدر: 2033 ; 2022

    العلاقة: Circulation; http://hdl.handle.net/10044/1/51826Test; RG68204 13/EE/0203 A092860

  9. 9
    دورية أكاديمية

    المؤلفون: Harbaum, Lars, Rhodes, Christopher, Wharton, John, Lawrie, Allan, Karnes, Jason, Desai, Ankit, Nichols, William, Humbert, Marc, Montani, David, Girerd, Barbara, Sitbon, Olivier, Boehm, Mario, Novoyatleva, Tatyana, Schermuly, Ralph, Ghofrani, H. Ardeschir, Toshner, Mark, Kiely, David, Howard, Luke, Swietlik, Emilia, Gräf, Stefan, Pietzner, Maik, Morrell, Nicholas, Wilkins, Martin, Southgate, L, Machado, Rd, Martin, J, Ouwehand, Wh, Pauciulo, Mw, Arora, A, Lutz, K, Ahmad, F, Archer, Sl, Argula, R, Austin, Ed, Badesch, D, Bakshi, S, Barnett, C, Benza, R, Bhatt, N, Burger, Cd, Chakinala, M, Elwing, J, Fortin, T, Frantz, Rp, Frost, A, Garcia, Jgn, Harley, J, He, H, Hill, Ns, Hirsch, R, Ivy, D, Klinger, J, Lahm, T, Marsolo, K, Martin, Lj, Nathan, Sd, Oudiz, Rj, Rehman, Z, Robbins, I, Roden, Dm, Rosenzweig, Eb, Saydain, G, Schilz, R, Simms, Rw, Simon, M, Tang, H, Tchourbanov, Ay, Thenappan, T, Torres, F, Walsworth, Ak, Walter, Re, White, Rj, Wilt, J, Yung, D, Kittles, R, Aman, J, Knight, J, Hanscombe, Kb, Gall, H, Ulrich, A, Bogaard, Hj, Church, C, Coghlan, Jg, Condliffe, R, Corris, Pa, Danesino, C, Elliott, Cg, Franke, A, Ghio, S, Gibbs, Jsr, Houweling, Ac, Kovacs, G, Laudes, M, Mackenzie Ross, Rv, Moledina, S, Newnham, M, Olschewski, A, Olschewski, H, Peacock, Aj, Pepke-Zaba, J, Scelsi, L, Seeger, W, Shaffer, Cm, Sitbon, O, Suntharalingam, J, Treacy, C, Vonk Noordegraaf, A, Waisfisz, Q, Wort, Sj, Trembath, Rc, Germain, M, Cebola, I, Ferrer, J, Amouyel, P, Debette, S, Eyries, M, Soubrier, F, Trégouët, Da

    المساهمون: Imperial College London, University of Sheffield Sheffield, University of Arizona, University of Cincinnati (UC), Hypertension pulmonaire : physiopathologie et innovation thérapeutique (HPPIT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Université Paris-Saclay, Faculté de Médecine, 94270 Le Kremlin-Bicêtre, France, Centre de Référence de l’Hypertension Pulmonaire Sévère CHU Le Kremlin Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris-Saclay, Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Cardiology department, Hôpital Marie Lannelongue, Le Plessis Robinson, France, Pôle des Cardiopathies Congénitales du Nouveau-Né à L'adulte - Centre Constitutif Cardiopathies Congénitales Complexes M3C, Groupe Hospitalier Paris Saint-Joseph, Hôpital Marie-Lannelongue, Inserm U999, Université Paris-Saclay, Hôpital Marie-Lannelongue-Hypertension pulmonaire : physiopathologie et innovation thérapeutique (HPPIT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Justus-Liebig-Universität Gießen = Justus Liebig University (JLU), University of Cambridge UK (CAM), Royal Hallamshire Hospital

    المصدر: ISSN: 1073-449X.

    مصطلحات موضوعية: [SDV]Life Sciences [q-bio]

    العلاقة: hal-04521671; https://hal.inrae.fr/hal-04521671Test; PUBMEDCENTRAL: PMC9875902

  10. 10
    دورية أكاديمية

    وصف الملف: application/pdf

    العلاقة: https://openaccess.sgul.ac.uk/id/eprint/111394/1/Hodgson%20et%20al_AJRCCM%202019_accepted.pdfTest; Hodgson, J; Swietlik, EM; Salmon, RM; Hadinnapola, C; Nikolic, I; Wharton, J; Guo, J; Liley, J; Haimel, M; Bleda, M; et al. Hodgson, J; Swietlik, EM; Salmon, RM; Hadinnapola, C; Nikolic, I; Wharton, J; Guo, J; Liley, J; Haimel, M; Bleda, M; Southgate, L; Machado, RD; Martin, JM; Treacy, CM; Yates, K; Daugherty, LC; Shamardina, O; Whitehorn, D; Holden, S; Bogaard, HJ; Church, C; Coghlan, G; Condliffe, R; Corris, PA; Danesino, C; Eyries, M; Gall, H; Ghio, S; Ghofrani, H-A; Gibbs, JSR; Girerd, B; Houweling, AC; Howard, L; Humbert, M; Kiely, DG; Kovacs, G; Lawrie, A; MacKenzie Ross, RV; Moledina, S; Montani, D; Olschewski, A; Olschewski, H; Ouwehand, WH; Peacock, AJ; Pepke-Zaba, J; Prokopenko, I; Rhodes, CJ; Scelsi, L; Seeger, W; Soubrier, F; Suntharalingam, J; Toshner, MR; Trembath, RC; Vonk Noordegraaf, A; Wort, SJ; Wilkins, MR; Yu, PB; Li, W; Gräf, S; Upton, PD; Morrell, NW (2020) Characterization of GDF2 Mutations and Levels of BMP9 and BMP10 in Pulmonary Arterial Hypertension. Am J Respir Crit Care Med, 201 (5). pp. 575-585. ISSN 1535-4970 https://doi.org/10.1164/rccm.201906-1141OCTest SGUL Authors: Southgate, Laura