학술논문
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'학술논문'
에서 검색결과 19건 | 목록
1~20
Academic Journal
Katrine M. Johannesen; Jimmi Nielsen; Anne Sabers; Bertrand Isidor; Anja A. Kattentidt-Mouravieva; Dominik Zieglgänsberger; Alexis R. Heidlebaugh; Kathryn F. Oetjens; Anna Abuli Vidal; Jakob Christensen; Jacob Tiller; Amber N. Freed; Rikke S. Møller; Guido Rubboli
Front Neurosci
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Frontiers in Neuroscience, Vol 17 (2023)
Johannesen, K M, Nielsen, J, Sabers, A, Isidor, B,Kattentidt -Mouravieva , A A, Zieglgänsberger, D, Heidlebaugh, A R, Oetjens, K F, Vidal, A A, Christensen, J, Tiller, J, Freed, A N, Møller, R S & Rubboli, G 2023, 'The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders', Frontiers in Neuroscience, vol. 17, 1216653. https://doi.org/10.3389/fnins.2023.1216653
Johannesen, K M, Nielsen, J, Sabers, A, Isidor, B,Kattentidt -Mouravieva , A A, Zieglgänsberger, D, Heidlebaugh, A R, Oetjens, K F, Vidal, A A, Christensen, J, Tiller, J, Freed, A N, Møller, R S & Rubboli, G 2023, ' The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders ', Frontiers in Neuroscience, vol. 17, 1216653 . https://doi.org/10.3389/fnins.2023.1216653
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Frontiers in Neuroscience, Vol 17 (2023)
Johannesen, K M, Nielsen, J, Sabers, A, Isidor, B,
Johannesen, K M, Nielsen, J, Sabers, A, Isidor, B,
Academic Journal
Karlijn Pellikaan; Anna G W Rosenberg; Anja A Kattentidt-Mouravieva; Rogier Kersseboom; Anja G Bos-Roubos; José M C Veen-Roelofs; Nina van Wieringen; Franciska M E Hoekstra; Sjoerd A A van den Berg; Aart Jan van der Lely; Laura C G de Graaff
J Clin Endocrinol Metab
Journal of Clinical Endocrinology and Metabolism, 105, 12, pp. e4671-e4687
Journal of Clinical Endocrinology and Metabolism, 105, 12, pp. e4671-e4687
Academic Journal
Benedetta Kassabian; Christina Dühring Fenger; Marjolaine Willems; Angel Aledo-Serrano; Tarja Linnankivi; Pamela Pojomovsky McDonnell; Laina Lusk; Birgit Susanne Jepsen; Michael Bayat; Anja A. Kattentidt-Mouravieva; Anna Abulí Vidal; Gabriel Valero-Lopez; Helena Alarcon-Martinez; Kimberly Goodspeed; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Rikke S. Møller; Katrine M. Johannesen; Guido Rubboli
Front Neurosci
Frontiers in Neuroscience, Vol 17 (2023)
Frontiers in Neuroscience, Vol 17 (2023)
Academic Journal
Benedetta Kassabian; Christina Dühring Fenger; Marjolaine Willems; Angel Aledo-Serrano; Tarja Linnankivi; Pamela Pojomovsky McDonnell; Laina Lusk; Birgit Susanne Jepsen; Michael Bayat; Anja A. Kattentidt-Mouravieva; Anna Abulí Vidal; Gabriel Valero-Lopez; Helena Alarcon-Martinez; Kimberly Goodspeed; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Rikke S. Møller; Katrine M. Johannesen; Guido Rubboli
Front Neurosci
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Frontiers in Neuroscience, Vol 17 (2023)
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Frontiers in Neuroscience, Vol 17 (2023)
Academic Journal
Aaron D Besterman; Thorsten Althoff; Peter Elfferich; Irma Gutierrez-Mejia; Joshua Sadik; Jonathan A Bernstein; Yvette van Ierland; Anja A Kattentidt-Mouravieva; Mark Nellist; Jeff Abramson; Julian A Martinez-Agosto
PLoS Genetics, Vol 17, Iss 7, p e1009651 (2021)
Academic Journal
Rosenberg, Anna G W; Pater, Minke R A; Davidse, Kirsten; Kattentidt-Mouravieva, Anja A; Kersseboom, Rogier; Bos-Roubos, Anja G; van Eeghen, Agnies; van der Meulen, Jiske J; Veen, José M C; van Aalst, Nina; Hoekstra, Franciska M E; Van der Lely, Aart J; de Graaff, Laura C G
J Endocr Soc
Academic Journal
Cathryn J. Poulton; Rachel Schot; Katja Seufert; Maarten H. Lequin; Andrea Accogli; Giuseppe D' Annunzio; Laurent Villard; Nicole Philip; René de Coo; Coriene Catsman‐Berrevoets; Ute Grasshoff; Anja Kattentidt‐Mouravieva; Hans Calf; Erika de Vreugt‐Gronloh; Leontine van Unen; Frans W. Verheijen; Niels Galjart; Deborah J. Morris‐Rosendahl; Grazia M. S. Mancini
American Journal of Medical Genetics Part A. 164:2161-2171
Academic Journal
Familial Cancer. 13:391-399
Academic Journal
Kattentidt-Mouravieva, AA; Geurts-Giele, IRR; de Krijger, Ronald; Noesel, MM; Ven, CP; van den Ouweland, Ans; Kromosoeto, Joan; Dinjens, Winand; Dubbink, Erik jan; Smits, Ron; Wagner, Anja
European Journal of Cancer. 48:1867-1874
Academic Journal
Anna G. W. Rosenberg; Minke R. A. Pater; Karlijn Pellikaan; Kirsten Davidse; Anja A. Kattentidt-Mouravieva; Rogier Kersseboom; Anja G. Bos-Roubos; Agnies van Eeghen; José M. C. Veen; Jiske J. van der Meulen; Nina van Aalst-van Wieringen; Franciska M. E. Hoekstra; Aart J. van der Lely; Laura C. G. de Graaff
J Clin Med
Journal of Clinical Medicine; Volume 10; Issue 22; Pages: 5457
Rosenberg, A G W, Pater, M R A, Pellikaan, K, Davidse, K,Kattentidt -Mouravieva , A A, Kersseboom, R, Bos-Roubos, A G, van Eeghen, A, Veen, J M C, van der Meulen, J J, van Aalst-van Wieringen, N, Hoekstra, F M E, van der Lely, A J & de Graaff, L C G 2021, 'What every internist-endocrinologist should know about rare genetic syndromes in order to prevent needless diagnostics, missed diagnoses and medical complications : Five years of ‘internal medicine for rare genetic syndromes’', Clinical Chemistry, vol. 10, no. 22, 5457. https://doi.org/10.3390/jcm10225457
Journal of Clinical Medicine, 10, 22
Journal of Clinical Medicine; Volume 10; Issue 22; Pages: 5457
Rosenberg, A G W, Pater, M R A, Pellikaan, K, Davidse, K,
Journal of Clinical Medicine, 10, 22
Academic Journal
Karlijn Pellikaan; Anna G. W. Rosenberg; Kirsten Davidse; Anja A. Kattentidt-Mouravieva; Rogier Kersseboom; Anja G. Bos-Roubos; Lionne N. Grootjen; Layla Damen; Sjoerd A. A. van den Berg; Aart J. van der Lely; Anita C. S. Hokken-Koelega; Laura C. G. de Graaff
J Clin Med
Journal of Clinical Medicine
Volume 10
Issue 15
Journal of Clinical Medicine, 10, 15
Journal of Clinical Medicine
Volume 10
Issue 15
Journal of Clinical Medicine, 10, 15
Academic Journal
Aaron Besterman; Thorsten Althoff; Peter Elfferich; Mark Sonneveld; Irma Gutierrez-Mejia; Joshua Sadik; Jonathan Bernstein; Anja Kattentidt‐Mouravieva; Yvette van Ierland; Mark Nellist; Jeff Abramson; Julian Martinez-Agosto
Molecular Genetics and Metabolism. 132:S107
Academic Journal
den Hoed, Joery ; de Boer, Elke ; Voisin, Norine ; Dingemans, Alexander J.M. ; Guex, Nicolas ; Wiel, Laurens ; Nellaker, Christoffer ; Amudhavalli, Shivarajan M. ; Banka, Siddharth ; Bena, Frederique S. ; Ben-Zeev, Bruria ; Bonagura, Vincent R. ; Bruel, Ange-Line ; Brunet, Theresa ; Brunner, Han G. ; Chew, Hui B. ; Chrast, Jacqueline ; Cimbalistienė, Loreta ; Coon, Hilary ; Délot, Emmanuèlle C. ; Démurger, Florence ; Denommé-Pichon, Anne-Sophie ; Depienne, Christel ; Donnai, Dian ; Dyment, David A. ; Elpeleg, Orly ; Faivre, Laurence ; Gilissen, Christian ; Granger, Leslie ; Haber, Benjamin ; Hachiya, Yasuo ; Abedi, Yasmin Hamzavi ; Hanebeck, Jennifer ; Hehir-Kwa, Jayne Y. ; Horist, Brooke ; Itai, Toshiyuki ; Jackson, Adam ; Jewell, Rosalyn ; Jones, Kelly L. ; Joss, Shelagh ; Kashii, Hirofumi ; Kato, Mitsuhiro ; Kattentidt-Mouravieva, Anja A. ; Kok, Fernando ; Kotzaeridou, Urania ; Krishnamurthy, Vidya ; Kučinskas, Vaidutis ; Kuechler, Alma ; Lavillaureix, Alinoë ; Liu, Pengfei ; Manwaring, Linda ; Matsumoto, Naomichi ; Mazel, Benoît ; McWalter, Kirsty ; Meiner, Vardiella ; Mikati, Mohamad A. ; Miyatake, Satoko ; Mizuguchi, Takeshi ; Moey, Lip H. ; Mohammed, Shehla ; Mor-Shaked, Hagar ; Mountford, Hayley ; Newbury-Ecob, Ruth ; Odent, Sylvie ; Orec, Laura ; Osmond, Matthew ; Palculict, Timothy B. ; Parker, Michael ; Petersen, Andrea K. ; Pfundt, Rolph ; Preikšaitienė, Eglė ; Radtke, Kelly ; Ranza, Emmanuelle ; Rosenfeld, Jill A. ; Santiago-Sim, Teresa ; Schwager, Caitlin ; Sinnema, Margje ; Snijders Blok, Lot ; Spillmann, Rebecca C. ; Stegmann, Alexander P.A. ; Thiffault, Isabelle ; Tran, Linh ; Vaknin-Dembinsky, Adi ; Vedovato-dos-Santos, Juliana H. ; Schrier Vergano, Samantha A. ; Vilain, Eric ; Vitobello, Antonio ; Wagner, Matias ; Waheeb, Androu ; Willing, Marcia ; Zuccarelli, Britton ; Kini, Usha ; Newbury, Dianne F. ; Kleefstra, Tjitske ; Reymond, Alexandre ; Fisher, Simon E. ; Vissers, Lisenka E.L.M.
In The American Journal of Human Genetics 4 February 2021 108(2):346-356
Academic Journal
Poulton, Cathryn J.; Schot, Rachel; Seufert, Katja; Lequin, Maarten H.; Accogli, Andrea; Dʼ Annunzio, Giuseppe; Villard, Laurent; Philip, Nicole; de Coo, René; Catsman-Berrevoets, Coriene; Grasshoff, Ute; Kattentidt-Mouravieva, Anja; Calf, Hans; de Vreugt-Gronloh, Erika; van Unen, Leontine; Verheijen, Frans W.; Galjart, Niels; Morris-Rosendahl, Deborah J.; Mancini, Grazia M. S.
American Journal Of Medical Genetics - A. Sep 01, 2014 164(9):2161-2171
Academic Journal
Pellikaan, Karlijn; Rosenberg, Anna G. W.; Kattentidt-Mouravieva, Anja A.; Kersseboom, Rogier; Bos-Roubos, Anja G.; Veen-Roelofs, José M. C.; Wieringen, Nina van; Hoekstra, Franciska M. E.; van den Berg, Sjoerd A. A.; van der Lely, Aart Jan; de Graaff, Laura C. G.; van Wieringen, Nina
Academic Journal
Pan, Yingzhou Edward; Tibbe, Debora; Harms, Frederike Leonie; Reissner, Carsten; Becker, Kerstin; Dingmann, Bri; Mirzaa, Ghayda; Kattentidt-Mouravieva, Anja A.; Shoukier, Moneef; Aggarwal, Shagun; Missler, Markus; Kutsche, Kerstin; Kreienkamp, Hans-Juergen
van Dijk, Remco; Mayayo-Peralta, Isabel; Aronson, Sem J.; Kattentidt-Mouravieva, Anja A.; van der Mark, Vincent A.; de Knegt, Rob; Oruc, Nevin; Beuers, Ulrich; Bosma, Piter J.
Journal of Hepatology. 63(6):1525-1529
Academic Journal
van Dijk, Remco; Mayayo-Peralta, Isabel; Aronson, Sem J.; Kattentidt-Mouravieva, Anja A.; van der Mark, Vincent; de Knegt, Robert J.; Oruc, Nevin; Beuers, Ulrich; Bosma, Piter J.
Academic Journal
Besterman, Aaron; Althoff, Thorsten; Elfferich, Peter; Sonneveld, Mark; Gutierrez-Mejia, Irma; Sadik, Joshua; Bernstein, Jonathan; Kattentidt-Mouravieva, Anja; van Ierland, Yvette; Nellist, Mark; Abramson, Jeff; Martinez-Agosto, Julian
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[검색어] Kattentidt-Mouravieva, Anja A.
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