Zobrazeno 1 - 10
of 39
pro vyhledávání: '"Bielas SL"'
Autor:
Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attixe9-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG.
Publikováno v:
Nat Genet.
Autor:
Lee, Jh, Silhavy, Jl, Lee, Je, Al Gazali, L, Thomas, S, Davis, Ee, Bielas, Sl, Hill, Kj, Gabriel, Sb, Brancati, F, Iannicelli, M, Russ, C, Logan, Cv, Sharif, Sm, Bennett, Cp, Abe, M, Hildebrandt, F, Diplas, Bh, Attié Bitach, T, Katsanis, N, Rajab, A, Koul, R, Sztriha, L, Waters, E, Ferro Novick, S, Woods, Gc, Johnson, Ca, Valente, Enza Maria, Zaki, Ms, Gleeson, J. G.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3978::bbd833e8e6c81cb0c5dec78a01cf5133
http://hdl.handle.net/11570/1938202
http://hdl.handle.net/11570/1938202
Autor:
Lee, Je, Silhavy, Jl, Zaki, Ms, Schroth, J, Bielas, Sl, Marsh, Se, Olvera, J, Brancati, F, Iannicelli, M, Ikegami, K, Schlossman, Am, Merriman, B, Attié Bitach, T, Logan, Cv, Glass, Ia, Cluckey, A, Louie, Cm, Lee, Jh, Raynes, Hr, Rapin, I, Setou, M, Barbot, C, Boltshauser, E, Nelson, Sf, Hildebrandt, F, Johnson, Ca, Doherty, Da, Valente, Enza Maria, Gleeson, Jg
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3978::106b638178bbc2b0336bd372fa29e6c4
http://hdl.handle.net/11570/1938201
http://hdl.handle.net/11570/1938201
Autor:
Brancati, F, Barrano, G, Silhavy, Jl, Marsh, Se, Travaglini, L, Bielas, Sl, Amorini, M, Zablocka, D, Kayserili, H, Al Gazali, L, Bertini, E, Boltshauser, E, D'Hooghe, M, Fazzi, E, Fenerci, Ey, Hennekam, Rc, Kiss, A, Lees, Mm, Marco, E, Phadke, Sr, Rigoli, L, Romano, S, Salpietro, Cd, Sherr, Eh, Signorini, S, Stromme, P, Stuart, B, Sztriha, L, Viskochil, Dh, Yuksel, A, Dallapiccola, [International JSRD Study Group], Valente, Em, Gleeson, Jg, Smith, P, Leventer, R, Janecke, A, Van Coster, R, Dias, K, Moco, C, Moreira, A, Chong, Ak, Maegawa, G, Abdel Salam GMH, Abdel Aleem, A, Zaki, Ms, Martu, I, Quijano Roy, S, De Lonlay, P, Verloes, A, Touraine, R, Koenig, M, Lagier Tourenne, C, Messer, J, Philippi, H, Tzeli, Sk, Halldorsson, S, Johannsdotir, J, Ludvigsson, P, Magee, A, Lev, D, Michelson, M, Ben Zev, B, Fischetto, R, Gentile, M, Battaglia, S, Giordano, L, Boccone, L, Ruggieri, Martino, Bigoni, S, Ferlini, A, Donati, Ma, Procopio, E, Cardidi, G, Faravelli, F, Ghiggeri, G, Briuglia, S, Tortorella, G, D’Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Lavercla, Am, Permunian, A, Bova, S, Battini, R, Cilio, Mr, Di Sabato, M, Emma, F, Leuzzi, V, Parisi, P, Simonati, A, Al Tawari AA, Bastaki, L, Aqeel, A, De Jong MM, Koul, R, Rajab, A, Azam, M, Barbot, C, Rodriguez, B, Pascual Castroviejo, I, Comu, S, Akcakus, M, Nicholl, D, Woods, Cg, Bennet, C, Hurst, J, Walsh, Ca, Bernes, S, Sanchez, H, Clark, Ae, Donahue, C, Hahn, J, Sanger, Td, Gallager, Te, Dobyns, Wb, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Mckanna, T, Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Holden, K, Cruse, Rp, Swoboda, Kj
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______4731::29b1808833eda2cd10499a763567881a
http://hdl.handle.net/20.500.11769/55023
http://hdl.handle.net/20.500.11769/55023
Akademický článek
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Autor:
Toolan KP; Department of Human Genetics, University of Michigan Medical School, MI, USA., McGrath BT; Cell and Molecular Biology Program, University of Michigan Medical School, MI, USA., Brinkmeier ML; Department of Human Genetics, University of Michigan Medical School, MI, USA., Camper SA; Department of Human Genetics, University of Michigan Medical School, MI, USA.; Cell and Molecular Biology Program, University of Michigan Medical School, MI, USA., Bielas SL; Department of Human Genetics, University of Michigan Medical School, MI, USA.; Cell and Molecular Biology Program, University of Michigan Medical School, MI, USA.; Department of Pediatrics, University of Michigan Medical School, MI, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Jun 30. Date of Electronic Publication: 2024 Jun 30.
Autor:
Werren EA; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Advanced Precision Medicine Laboratory, The Jackson Laboratory for Genomic Medicine, Farmington, CTt, 06032, USA., Peirent ER; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI, 48109, USA., Jantti H; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Guxholli A; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Srivastava KR; Medicinal and Process Chemistry Division, CSIR-Central Drug Research Institute, Lucknow, 226031, India., Orenstein N; Schneider Children's Medical Center of Israel, Petah Tikva, 4920235, Israel., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, 85004, USA., Wiszniewski W; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, 97239, USA., Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, 01-211, Poland., Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, Riyadh, 11481, Saudi Arabia.; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Punjab, 54770, Pakistan., Khan A; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, 97239, USA.; Department of Zoology, University of Lakki Marwat, Lakki Marwat, Khyber Pakhtunkhwa, 28420, Pakistan., Khan SN; Department of Zoology, Kohat University of Science and Technology, Kohat, Pakistan., Geneviève D; Montpellier University, Inserm Unit U1183, Reference Center for Rare Diseases and Developmental Anomalies, CHU, 34000, Montpellier, France., Lehalle D; Sorbonne University, Department of Medical Genetics, Hospital Armand Trousseau, 75012, Paris, France., van Gassen KLI; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, 3584 EA, The Netherlands., Giltay JC; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, 3584 EA, The Netherlands., Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, 3584 EA, The Netherlands., van Jaarsveld RH; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, 3584 EA, The Netherlands., Rafiullah R; Department of Biotechnology, Faculty of Life Sciences, BUITEMS, Quetta, 87300, Pakistan., Rappold GA; Department of Human Molecular Genetics, Institute of Human Genetics, Ruprecht-Karls-University, Heidelberg, 69120, Germany., Rabin R; Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, 10016, USA., Pappas JG; Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, 10016, USA., Wheeler MM; Department of Genome Sciences, University of Washington, Seattle, WA, 98195, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.; Brotman Baty Institute, Washington, 98195, USA., Tsan YC; Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, MI, 48109, USA., Johnson MB; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Keegan CE; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Srivastava A; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, 226014, India. asrivastavapgi@gmail.com., Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA. sbielas@umich.edu.
Publikováno v:
Cell death & disease [Cell Death Dis] 2024 May 30; Vol. 15 (5), pp. 379. Date of Electronic Publication: 2024 May 30.
Autor:
Ryan CW; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, 48109-5618, USA.; Medical Science Training Program, University of Michigan Medical School, 3703 Med Sci II, 1241 E. Catherine St., Ann Arbor, MI, 48109-5618, USA., Peirent ER; Neuroscience Graduate Program, University of Michigan Medical School, Ann Arbor, MI, 48109-5618, USA., Regan SL; Department of Human Genetics, University of Michigan Medical School, 3703 Med Sci II, 1241 E. Catherine St., Ann Arbor, MI, 48109-5618, USA., Guxholli A; Department of Human Genetics, University of Michigan Medical School, 3703 Med Sci II, 1241 E. Catherine St., Ann Arbor, MI, 48109-5618, USA.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48199-5618, USA., Bielas SL; Cellular and Molecular Biology Program, University of Michigan Medical School, Ann Arbor, MI, 48109-5618, USA. sbielas@umich.edu.; Neuroscience Graduate Program, University of Michigan Medical School, Ann Arbor, MI, 48109-5618, USA. sbielas@umich.edu.; Department of Human Genetics, University of Michigan Medical School, 3703 Med Sci II, 1241 E. Catherine St., Ann Arbor, MI, 48109-5618, USA. sbielas@umich.edu.; Department of Pediatrics, University of Michigan Medical School, Ann Arbor, MI, 48199-5618, USA. sbielas@umich.edu.
Publikováno v:
Human genetics [Hum Genet] 2024 Apr; Vol. 143 (4), pp. 511-527. Date of Electronic Publication: 2023 Apr 22.
Autor:
Khoa LTP; Department of Medicine, Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, 90033, USA.; Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Yang W; Department of Medicine, Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, 90033, USA., Shan M; Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Zhang L; Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Mao F; Institute of Medical Innovation and Research, Peking University Third Hospital, Beijing, China., Zhou B; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Li Q; Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, 1000 Wall St., Ann Arbor, MI, 48105, USA., Malcore R; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Harris C; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Zhao L; Beaumont Hospital, Wayne, 33155 Annapolis St., Wayne, MI, 48184, USA., Rao RC; Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, 1000 Wall St., Ann Arbor, MI, 48105, USA., Iwase S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Kalantry S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Lyssiotis CA; Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Dou Y; Department of Medicine, Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, 90033, USA. yalidou@usc.edu.
Publikováno v:
Nature communications [Nat Commun] 2024 Mar 12; Vol. 15 (1), pp. 2215. Date of Electronic Publication: 2024 Mar 12.
Autor:
Khoa LTP; Department of Medicine, Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, 90033, USA.; Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Yang W; Department of Medicine, Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, 90033, USA., Shan M; Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Zhang L; Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Mao F; Institute of Medical Innovation and Research, Peking University Third Hospital, Beijing, China., Zhou B; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Li Q; Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, 1000 Wall St., Ann Arbor, MI, 48105, USA., Malcore R; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Harris C; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Zhao L; Beaumont Hospital, Wayne, 33155 Annapolis St., Wayne, MI, 48184, USA., Rao RC; Department of Ophthalmology & Visual Sciences, W.K. Kellogg Eye Center, University of Michigan, 1000 Wall St., Ann Arbor, MI, 48105, USA., Iwase S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Kalantry S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Bielas SL; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Lyssiotis CA; Department of Molecular and Integrative Physiology, University of Michigan Medical School, Ann Arbor, MI, 48109, USA., Dou Y; Department of Medicine, Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA, 90033, USA. yalidou@usc.edu.
Publikováno v:
Nature communications [Nat Commun] 2024 Feb 26; Vol. 15 (1), pp. 1721. Date of Electronic Publication: 2024 Feb 26.