학술논문
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'학술논문'
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Academic Journal
In: Proceedings of the Zoological Society . (Proceedings of the Zoological Society, 1 March 2020, 73(1):86-94)
Academic Journal
Zerafati-Jahromi, G.; Oxman, E.; Hoang, H.D.; Charng, W.L.; Kotla, T.; Yuan, W.; Ishibashi, K.; Sebaoui, S.; Luedtke, K.; Winrow, B.; Ganetzky, R.D.; Ruiz, Anna; Manso-Bazús, Carmen; Spataro, Nino; Kannu, P.; Athey, T.; Peroutka, C.; Barnes, C.; Sidlow, R.; Anadiotis, G.; Magnussen, K.; Valenzuela, Irene; Moles-Fernández, Alejandro; Berger, S.; Grant, C.L.; Vilain, E.; Arnadottir, G.A.; Sulem, P.; Sulem, T.S.; Stefansson, K.; Massey, S.; Ginn, N.; Poduri, A.; D'Gama, A.M.; Valentine, R.; Trowbridge, S.K.; Murali, C.N.; Franciskovich, R.; Tran, Y.; Webb, B.D.; Keppler-Noreuil, K.M.; Hall, A.L.; McGivern, B.; Monaghan, K.G.; Guillen Sacoto, M.J.; Baldridge, D.; Silverman, G.A.; Dahiya, S.; Turner, T.N.; Schedl, T.; Corbin, J.G.; Pak, S.C.; Zohn, I.E.; Gurnett, C.A.; Universitat Autònoma de Barcelona
Academic Journal
Rose, Sweta; Ashraf, Muhammad Uwais; Shastri, Arpit; Priya, Kannu; Sharma, Maryada; Bhujade, Harish; Kumar, Yashwant; Ram, Sant; Rathi, Sahaj; De, Arka; Verma, Nipun; Premkumar, Madhumita; Taneja, Sunil; Duseja, Ajay
Academic Journal
Academic Journal
Academic Journal
Bansal, Kannu; Pawar, Shubhadarshini; Yamparala, Aishwarya; Abbott, J. Dawn; Kanwar, Manreet K.; Kapur, Navin K.; Vallabhajosyula, Saraschandra; Ton, Van-Khue
Academic Journal
Gehin, C.; Lone, M.A.; Lee, W.; Capolupo, L.; Ho, S.; Adeyemi, A.M.; Gerkes, E.H.; Stegmann, A.P.A.; López-Martín, E.; Bermejo-Sánchez, E.; Martínez-Delgado, B.; Zweier, C.; Kraus, C.; Popp, B.; Strehlow, V.; Gräfe, D.; Knerr, I.; Jones, E.R.; Zamuner, S.; Abriata, L.A.; Kunnathully, V.; Moeller, B.E.; Vocat, A.; Rommelaere, S.; Bocquete, J.P.; Ruchti, E.; Limoni, G.; Van Campenhoudt, M.; Bourgeat, S.; Henklein, P.; Gilissen, C.F.; van Bon, B.W.M.; Pfundt, R.P.; Willemsen, M.H.; Schieving, J.H.; Leonardi, E.; Soli, F.; Murgia, A.; Guo, H; Zhang, Qiumeng; Xia, K.; Fagerberg, C.R.; Beier, C.P.; Larsen, M.J.; Valenzuela, I.; Fernández-Álvarez, P.; Xiong, S.; Śmigiel, R.; López-González, V.; Armengol, L.; Morleo, M.; Selicorni, A.; Torella, A.; Blyth, M.; Cooper, N.S.; Wilson, V.; Oegema, R.; Herenger, Y.; Garde, A.; Bruel, A.L.; Tran Mau-Them, F.; Maddocks, A.B.; Bain, J.M.; Bhat, M.A.; Costain, G.; Kannu, P.; Marwaha, A.; Champaigne, N.L.; Friez, M.J.; Richardson, E.B.; Gowda, V.K.; Srinivasan, V.M.; Gupta, Y.; Lim, T.Y.; Sanna-Cherchi, S.; Lemaitre, B.; Yamaji, T.; Hanada, K.; Burke, J.E.; Jakšić, A.M.; McCabe, B.D.; De Los Rios, P.; Hornemann, T.; D'Angelo, G.; Gennarino, V.A.
J Clin Invest
Repisalud
Instituto de Salud Carlos III (ISCIII)
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Journal of Clinical Investigation, 133, 10
Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; ... (2023). CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. The journal of clinical investigation, 133(10) American Society for Clinical Investigation 10.1172/JCI165019
Repisalud
Instituto de Salud Carlos III (ISCIII)
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Journal of Clinical Investigation, 133, 10
Gehin, Charlotte; Lone, Museer A; Lee, Winston; Capolupo, Laura; Ho, Sylvia; Adeyemi, Adekemi M; Gerkes, Erica H; Stegmann, Alexander Pa; López-Martín, Estrella; Bermejo-Sánchez, Eva; Martínez-Delgado, Beatriz; Zweier, Christiane; Kraus, Cornelia; Popp, Bernt; Strehlow, Vincent; Gräfe, Daniel; Knerr, Ina; Jones, Eppie R; Zamuner, Stefano; Abriata, Luciano A; ... (2023). CERT1 mutations perturb human development by disrupting sphingolipid homeostasis. The journal of clinical investigation, 133(10) American Society for Clinical Investigation 10.1172/JCI165019
Academic Journal
Deb W; Besnard T; Desprez F; Cogné B; Do Souto Ferreira L; Vignard V; Marouillat S; Januel L; Gorokhova S; Busa T; Morel V; Dauriat B; Desportes V; Slavotinek AM; An Y; Lee H; Hary J; Kannu P; Athey TB; van de Laar IMBH; van Slegtenhorst MA; Dickson P; Muir AM; Buchert R; Haack TB; Imort D; Sousa SB; Xavier B; Almeida PM; Rogac M; Peterlin B; Kaspar S; Netzer C; Zempel H; Towne MC; Ladda RL; Sell SS; Gawlinski P; Song X; Wiszniewski W; Calame DG; Posey JE; Ebstein F; Lupski JR; Isidor B; Bézieau S; Laumonnier F; Küry S
Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Academic Journal
Silveira KC; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Ambrose A; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Athey T; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Alberta Health Services, Edmonton Zone, Alberta, Canada.; Taylor S; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Alberta Health Services, Edmonton Zone, Alberta, Canada.; Women and Children's Health Research Institute, University of Alberta, Edmonton, Alberta, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, Alberta, Canada.; Kannu P; Department of Medical Genetics, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Alberta Health Services, Edmonton Zone, Alberta, Canada.
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
In: Osteoporosis International ; (New York, New York) Jul2019; v.30 n.7, 1541-1541. (1p)
Academic Journal
Academic Journal
Olli, Kattilakoski; Mari, Leppaenen; Pekka, Kannus; Kathrin, Steffen; Tommi, Vasankari; Tanja, Kulmala; Jari, Parkkari; Kati, Pasanen
Academic Journal
Rots, D.; Chater-Diehl, E.; Dingemans, A.J.M.; Goodman, S.J.; Siu, M.T.; Cytrynbaum, C.; Choufani, S.; Hoang, N.; Walker, S.; Awamleh, Z.; Charkow, J.; Meyn, S.; Pfundt, R.; Rinne, T.; Gardeitchik, T.; Vries, B.B.A. de; Deden, A.C.; Leenders, E.; Kwint, M.; Stumpel, C.T.R.M.; Stevens, S.J.C.; Vermeulen, J.R.; Harssel, J.V.T. van; Bosch, D.G.M.; Gassen, K.L.I. van; Binsbergen, E. van; Geus, C.M. de; Brackel, H.; Hempel, M.; Lessel, D.; Denecke, J.; Slavotinek, A.; Strober, J.; Crunk, A.; Folk, L.; Wentzensen, I.M.; Yang, H.; Zou, F.G.; Millan, F.; Person, R.; Xie, Y.L.; Liu, S.X.; Ousager, L.B.; Larsen, M.; Schultz-Rogers, L.; Morava, E.; Klee, E.W.; Berry, I.R.; Campbell, J.; Lindstrom, K.; Pruniski, B.; Neumeyer, A.M.; Radley, J.A.; Phornphutkul, C.; Schmidt, B.; Wilson, W.G.; Ounap, K.; Reinson, K.; Pajusalu, S.; Haeringen, A. van; Ruivenkamp, C.; Cuperus, R.; Santos-Simarro, F.; Palomares-Bralo, M.; Pacio-Miguez, M.; Ritter, A.; Bhoj, E.; Tonne, E.; Tveten, K.; Cappuccio, G.; Brunetti-Pierri, N.; Rowe, L.; Bunn, J.; Saenz, M.; Platzer, K.; Mertens, M.; Caluseriu, O.; Nowaczyk, M.J.M.; Cohn, R.D.; Kannu, P.; Alkhunaizi, E.; Chitayat, D.; Scherer, S.W.; Brunner, H.G.; Vissers, L.E.L.M.; Kleefstra, T.; Koolen, D.A.; Weksberg, R.
Am J Hum Genet
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 108, 6, pp. 1053-1068
Rots, D, Chater-Diehl, E, Dingemans, A J M, Goodman, S J, Siu, M T, Cytrynbaum, C, Choufani, S, Hoang, N, Walker, S, Awamleh, Z, Charkow, J, Meyn, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Deden, A C, Leenders, E, Kwint, M, Stumpel, C T R M, Stevens, S J C, Vermeulen, J R, van Harssel, J V T, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Brackel, H, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Crunk, A, Folk, L, Wentzensen, I M, Yang, H, Zou, F, Millan, F, Person, R, Xie, Y, Liu, S, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Pruniski, B, Radley, J A, Phornphutkul, C, Schmidt, B, Wilson, W G, Õunap, K, Reinson, K, Pajusalu, S, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Santos-Simarro, F, Palomares-Bralo, M, Pacio-Míguez, M, Ritter, A, Bhoj, E, Tønne, E, Tveten, K, Cappuccio, G, Brunetti-Pierri, N, Rowe, L, Bunn, J, Saenz, M, Platzer, K, Mertens, M, Caluseriu, O, Nowaczyk, M J M, Cohn, R D,Kannu , P , Alkhunaizi, E, Chitayat, D, Scherer, S W, Brunner, H G, Vissers, L E L M, Kleefstra, T, Koolen, D A & Weksberg, R 2021, ' Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature ', American Journal of Human Genetics, vol. 108, no. 6, pp. 1053-1068 . https://doi.org/10.1016/j.ajhg.2021.04.008
American Journal of Human Genetics, vol 108, iss 6
American Journal of Human Genetics
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American Journal of Human Genetics, 108, 6, pp. 1053-1068
Rots, D, Chater-Diehl, E, Dingemans, A J M, Goodman, S J, Siu, M T, Cytrynbaum, C, Choufani, S, Hoang, N, Walker, S, Awamleh, Z, Charkow, J, Meyn, S, Pfundt, R, Rinne, T, Gardeitchik, T, de Vries, B B A, Deden, A C, Leenders, E, Kwint, M, Stumpel, C T R M, Stevens, S J C, Vermeulen, J R, van Harssel, J V T, Bosch, D G M, van Gassen, K L I, van Binsbergen, E, de Geus, C M, Brackel, H, Hempel, M, Lessel, D, Denecke, J, Slavotinek, A, Strober, J, Crunk, A, Folk, L, Wentzensen, I M, Yang, H, Zou, F, Millan, F, Person, R, Xie, Y, Liu, S, Ousager, L B, Larsen, M, Schultz-Rogers, L, Morava, E, Klee, E W, Berry, I R, Campbell, J, Lindstrom, K, Pruniski, B, Radley, J A, Phornphutkul, C, Schmidt, B, Wilson, W G, Õunap, K, Reinson, K, Pajusalu, S, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Santos-Simarro, F, Palomares-Bralo, M, Pacio-Míguez, M, Ritter, A, Bhoj, E, Tønne, E, Tveten, K, Cappuccio, G, Brunetti-Pierri, N, Rowe, L, Bunn, J, Saenz, M, Platzer, K, Mertens, M, Caluseriu, O, Nowaczyk, M J M, Cohn, R D,
American Journal of Human Genetics, vol 108, iss 6
American Journal of Human Genetics
Academic Journal
Conference
EMC Europe 2006 Barcelona, International Symposium on Electromagnetic Compatibility Electromagnetic Compatibility, EMC Europe 2006 Barcelona, International Symposium on. :1-5 Sep, 2006
Academic Journal
Gehin C; Lone MA; Lee W; Capolupo L; Ho S; Adeyemi AM; Gerkes EH; Stegmann AP; López-Martín E; Bermejo-Sánchez E; Martínez-Delgado B; Zweier C; Kraus C; Popp B; Strehlow V; Gräfe D; Knerr I; Jones ER; Zamuner S; Abriata LA; Kunnathully V; Moeller BE; Vocat A; Rommelaere S; Bocquete JP; Ruchti E; Limoni G; Van Campenhoudt M; Bourgeat S; Henklein P; Gilissen C; van Bon BW; Pfundt R; Willemsen MH; Schieving JH; Leonardi E; Soli F; Murgia A; Guo H; Zhang Q; Xia K; Fagerberg CR; Beier CP; Larsen MJ; Valenzuela I; Fernández-Álvarez P; Xiong S; Śmigiel R; López-González V; Armengol L; Morleo M; Selicorni A; Torella A; Blyth M; Cooper NS; Wilson V; Oegema R; Herenger Y; Garde A; Bruel AL; Tran Mau-Them F; Maddocks AB; Bain JM; Bhat MA; Costain G; Kannu P; Marwaha A; Champaigne NL; Friez MJ; Richardson EB; Gowda VK; Srinivasan VM; Gupta Y; Lim TY; Sanna-Cherchi S; Lemaitre B; Yamaji T; Hanada K; Burke JE; Jakšić AM; McCabe BD; De Los Rios P; Hornemann T; D'Angelo G; Gennarino VA
Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: eCollection Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE; In Process
Academic Journal
Bansal, Kannu; Rawlley, Bharat; Majmundar, Vidit; Beale, Robert; Shah, Miloni; Kosinski, Andrzej S.; Gupta, Tanush; Gilani, Fahad; Anwaruddin, Saif; Khera, Sahil; Vemulapalli, Sreekanth; Elmariah, Sammy; Kolte, Dhaval
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[검색어] Kannu, P.
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