학술논문
'학술논문'
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1~10
Academic Journal
Occupational and Environmental Medicine, 2009 Jan 01. 66(1), 45-50.
Academic Journal
Shazia Ashraf; Hiroki Kudo; Jia Rao; Atsuo Kikuchi; Eugen Widmeier; Jennifer A. Lawson; Weizhen Tan; Tobias Hermle; Jillian K. Warejko; Shirlee Shril; Merlin Airik; Tilman Jobst-Schwan; Svjetlana Lovric; Daniela A. Braun; Heon Yung Gee; David Schapiro; Amar J. Majmundar; Carolin E. Sadowski; Werner L. Pabst; Ankana Daga; Amelie T. van der Ven; Johanna M. Schmidt; Boon Chuan Low; Anjali Bansal Gupta; Brajendra K. Tripathi; Jenny Wong; Kirk Campbell; Kay Metcalfe; Denny Schanze; Tetsuya Niihori; Hiroshi Kaito; Kandai Nozu; Hiroyasu Tsukaguchi; Ryojiro Tanaka; Kiyoshi Hamahira; Yasuko Kobayashi; Takumi Takizawa; Ryo Funayama; Keiko Nakayama; Yoko Aoki; Naonori Kumagai; Kazumoto Iijima; Henry Fehrenbach; Jameela A. Kari; Sherif El Desoky; Sawsan Jalalah; Radovan Bogdanovic; Nataša Stajić; Hildegard Zappel; Assel Rakhmetova; Sharon-Rose Wassmer; Therese Jungraithmayr; Juergen Strehlau; Aravind Selvin Kumar; Arvind Bagga; Neveen A. Soliman; Shrikant M. Mane; Lewis Kaufman; Douglas R. Lowy; Mohamad A. Jairajpuri; Richard P. Lifton; York Pei; Martin Zenker; Shigeo Kure; Friedhelm Hildebrandt
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Academic Journal
Braun, Daniela A; Rao, Jia; Mollet, Geraldine; Schapiro, David; Daugeron, Marie-Claire; Tan, Weizhen; Gribouval, Olivier; Boyer, Olivia; Revy, Patrick; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Lawson, Jennifer A; Schanze, Denny; Ashraf, Shazia; Ullmann, Jeremy F P; Hoogstraten, Charlotte A; Boddaert, Nathalie; Collinet, Bruno; Martin, Gaëlle; Liger, Dominique; Lovric, Svjetlana; Furlano, Monica; Guerrera, I Chiara; Sanchez-Ferras, Oraly; Hu, Jennifer F; Boschat, Anne-Claire; Sanquer, Sylvia; Menten, Björn; Vergult, Sarah; De Rocker, Nina; Airik, Merlin; Hermle, Tobias; Shril, Shirlee; Widmeier, Eugen; Gee, Heon Yung; Choi, Won-Il; Sadowski, Carolin E; Pabst, Werner L; Warejko, Jillian K; Daga, Ankana; Basta, Tamara; Matejas, Verena; Scharmann, Karin; Kienast, Sandra D; Behnam, Babak; Beeson, Brendan; Begtrup, Amber; Bruce, Malcolm; Ch'ng, Gaik-Siew; Lin, Shuan-Pei; Chang, Jui-Hsing; Chen, Chao-Huei; Cho, Megan T; Gaffney, Patrick M; Gipson, Patrick E; Hsu, Chyong-Hsin; Kari, Jameela A; Ke, Yu-Yuan; Kiraly-Borri, Cathy; Lai, Wai-ming; Lemyre, Emmanuelle; Littlejohn, Rebecca Okashah; Masri, Amira; Moghtaderi, Mastaneh; Nakamura, Kazuyuki; Ozaltin, Fatih; Praet, Marleen; Prasad, Chitra; Prytula, Agnieszka; Roeder, Elizabeth R; Rump, Patrick; Schnur, Rhonda E; Shiihara, Takashi; Sinha, Manish D; Soliman, Neveen A; Soulami, Kenza; Sweetser, David A; Tsai, Wen-Hui; Tsai, Jeng-Daw; Topaloglu, Rezan; Vester, Udo; Viskochil, David H; Vatanavicharn, Nithiwat; Waxler, Jessica L; Wierenga, Klaas J; Wolf, Matthias T F; Wong, Sik-Nin; Leidel, Sebastian A; Truglio, Gessica; Dedon, Peter C; Poduri, Annapurna; Mane, Shrikant; Lifton, Richard P; Bouchard, Maxime; Kannu, Peter; Chitayat, David; Magen, Daniella; Callewaert, Bert; van Tilbeurgh, Herman; Zenker, Martin; Antignac, Corinne; Hildebrandt, Friedhelm
Nature Genetics. October 2017, Vol. 49 Issue 10, p1529, 10 p.
Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency
Academic Journal
Lovric, Svjetlana; Goncalves, Sara; Gee, Heon Yung; Oskouian, Babak; Srinivas, Honnappa; Choi, Won-Il; Shril, Shirlee; Ashraf, Shazia; Tan, Weizhen; Rao, Jia; Airik, Merlin; Schapiro, David; Braun, Daniela A.; Sadowski, Carolin E.; Widmeier, Eugen; Jobst-Schwan, Tilman; Schmidt, Johanna Magdalena; Girik, Vladimir; Capitani, Guido; Suh, Jung H.; Lachaussée, Noëlle; Arrondel, Christelle; Patat, Julie; Gribouval, Olivier; Furlano, Monica; Boyer, Olivia; Schmitt, Alain; Vuiblet, Vincent; Hashmi, Seema; Wilcken, Rainer; Bernier, Francois P.; Innes, A. Micheil; Parboosingh, Jillian S.; Lamont, Ryan E.; Midgley, Julian P.; Wright, Nicola; Majewski, Jacek; Zenker, Martin; Schaefer, Franz; Kuss, Navina; Greil, Johann; Giese, Thomas; Schwarz, Klaus; Catheline, Vilain; Schanze, Denny; Franke, Ingolf; Sznajer, Yves; Truant, Anne S.; Adams, Brigitte; Désir, Julie; Biemann, Ronald; Pei, York; Ars, Elisabet; Lloberas, Nuria; Madrid, Alvaro; Dharnidharka, Vikas R.; Connolly, Anne M.; Willing, Marcia C.; Cooper, Megan A.; Lifton, Richard P.; Simons, Matias; Riezman, Howard; Antignac, Corinne; Saba, Julie D.; Hildebrandt, Friedhelm
Journal of Clinical Investigation. Mar 01, 2017 127(3):912-928
Electronic Resource
Majmundar, AJ; Buerger, F; Forbes, TA; Klambt, V; Schneider, R; Deutsch, K; Kitzler, TM; Howden, SE; Scurr, M; Tan, KS; Krzeminski, M; Widmeier, E; Braun, DA; Lai, E; Ullah, I; Amar, A; Kolb, A; Eddy, K; Chen, CH; Salmanullah, D; Dai, R; Nakayama, M; Ottlewski, I; Kolvenbach, CM; Onuchic-Whitford, AC; Mao, Y; Mann, N; Nabhan, MM; Rosen, S; Forman-Kay, JD; Soliman, NA; Heilos, A; Kain, R; Aufricht, C; Mane, S; Lifton, RP; Shril, S; Little, MH; Hildebrandt, F
Academic Journal
Majmundar AJ; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Widmeier E; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Heneghan JF; Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA.; Daga A; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Wu CW; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA; Departments of Urology and Genetics and Genome Sciences, School of Medicine, Case Western Reserve University and University Hospitals, Cleveland, OH.; Buerger F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Hugo H; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Ullah I; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA; Molecular Biology Laboratory, Institute of Biochemistry and Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan.; Amar A; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Human Genetics and Molecular Biology, University of Health Sciences Lahore, Lahore, Pakistan.; Ottlewski I; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Braun DA; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Jobst-Schwan T; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA; Department of Nephrology and Hypertension, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Lawson JA; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Zahoor MY; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA; Molecular Biology Laboratory, Institute of Biochemistry and Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan.; Rodig NM; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Tasic V; Medical Faculty Skopje, University Children's Hospital, Skopje, North Macedonia.; Nelson CP; Department of Urology, Boston Children's Hospital and Department of Surgery, Harvard Medical School, Boston, MA.; Khaliq S; Department of Human Genetics and Molecular Biology, University of Health Sciences Lahore, Lahore, Pakistan.; Schönauer R; Division of Nephrology, Department of Internal Medicine, University of Leipzig, Leipzig, Germany; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Halbritter J; Division of Nephrology, Department of Internal Medicine, University of Leipzig, Leipzig, Germany; Department of Nephrology and Medical Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.; Sayer JA; Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom; The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, United Kingdom; NIHR Newcastle Biomedical Research Centre, Newcastle, United Kingdom.; Fathy HM; Pediatric Nephrology Unit, Alexandria University, Alexandria, Egypt.; Baum MA; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Shril S; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA.; Mane S; Department of Genetics and Yale Center for Mendelian Genomics, Yale University School of Medicine, New Haven, CT.; Alper SL; Division of Nephrology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA.; Hildebrandt F; Division of Nephrology, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA. Electronic address: friedhelm.hildebrandt@childrens.harvard.edu.
Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Editorial & Opinion
Widmeier E; Interdisciplinary Medical Intensive Care, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Wengenmayer T; Interdisciplinary Medical Intensive Care, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Maier S; Department of Cardiovascular Surgery, Heart Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Benk C; Department of Cardiovascular Surgery, Heart Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Zotzmann V; Interdisciplinary Medical Intensive Care, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Staudacher DL; Interdisciplinary Medical Intensive Care, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Supady A; Interdisciplinary Medical Intensive Care, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Heidelberg Institute of Global Health, University of Heidelberg, Heidelberg, Germany.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 7802778 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1594 (Electronic) Linking ISSN: 0160564X NLM ISO Abbreviation: Artif Organs Subsets: MEDLINE
Academic Journal
Widmeier E; Interdisciplinary Medical Intensive Care, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Wengenmayer T; Interdisciplinary Medical Intensive Care, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Cardiology and Angiology I, Heart Center, University of Freiburg, Freiburg, Germany.; Maier S; Department of Cardiovascular Surgery, Heart Center, University of Freiburg, Freiburg, Germany.; Benk C; Department of Cardiovascular Surgery, Heart Center, University of Freiburg, Freiburg, Germany.; Zotzmann V; Interdisciplinary Medical Intensive Care, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Cardiology and Angiology I, Heart Center, University of Freiburg, Freiburg, Germany.; Staudacher DL; Interdisciplinary Medical Intensive Care, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Cardiology and Angiology I, Heart Center, University of Freiburg, Freiburg, Germany.; Supady A; Interdisciplinary Medical Intensive Care, Medical Center - University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Department of Cardiology and Angiology I, Heart Center, University of Freiburg, Freiburg, Germany.; Heidelberg Institute of Global Health, University of Heidelberg, Freiburg, Germany.
Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 7802778 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1525-1594 (Electronic) Linking ISSN: 0160564X NLM ISO Abbreviation: Artif Organs Subsets: MEDLINE
Electronic Resource
Braun, D.A.; Lovric, S.; Schapiro, D.; Schneider, R.; Marquez, J.; Asif, M.; Hussain, M.S.; Daga, A.; Widmeier, E.; Rao, J.; Ashraf, S.; Tan, W.; Lusk, C.P.; Kolb, A.; Jobst-Schwan, T.; Schmidt, J.M.; Hoogstraten, C.A.; Eddy, K.; Kitzler, T.M.; Shril, S.; Moawia, A.; Schrage, K.; Khayyat, A.I.A.; Lawson, J.A.; Gee, H.Y.; Warejko, J.K.; Hermle, T.; Majmundar, A.J.; Hugo, H.; Budde, B.; Motameny, S.; Altmuller, J.; Noegel, A.A.; Fathy, H.M.; Gale, D.P.; Waseem, S.S.; Khan, A.; Kerecuk, L.; Hashmi, S.; Mohebbi, N.; Ettenger, R.; Serdaroglu, E.; Alhasan, K.A.; Hashem, M.; Goncalves, S.; Ariceta, G.; Ubetagoyena, M.; Antonin, W.; Baig, S.M.; Alkuraya, F.S.; Shen, Q.; Xu, H.; Antignac, C.; Lifton, R.P.; Mane, S.; Nurnberg, P.; Khokha, M.K.; Hildebrandt, F.
Journal of Clinical Investigation; 4313; 4328; 0021-9738; 10; 128; ~Journal of Clinical Investigation~4313~4328~~~0021-9738~10~128~~
Academic Journal
In Chest June 2022 161(6) Supplement:A173-A173
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