학술논문
'학술논문'
에서 검색결과 155건 | 목록
10~20
Academic Journal
Staretz‐Chacham, Orna; Shukrun, Rachel; Barel, Ortal; Pode‐Shakked, Ben; Pleniceanu, Oren; Anikster, Yair; Shalva, Nechama; Ferreira, Carlos R.; Ben‐Haim Kadosh, Admit; Richardson, Justin; Mane, Shrikant M.; Hildebrandt, Friedhelm; Vivante, Asaf
American Journal of Medical Genetics. Part A; Oct2019, Vol. 179 Issue 10, p2112-2118, 7p
Academic Journal
Klei, Lambertus; Sanders, Stephan J.; Murtha, Michael T.; Hus, Vanessa; Lowe, Jennifer K.; Jeremy Willsey, A.; Moreno-De-Luca, Daniel; Yu, Timothy W.; Fombonne, Eric; Geschwind, Daniel; Grice, Dorothy E.; Ledbetter, David H.; Lord, Catherine; Mane, Shrikant M.; Martin, Christa Lese; Martin, Donna M.; Morrow, Eric M.; Walsh, Christopher A.; Melhem, Nadine M.; Chaste, Pauline
Academic Journal
Boyden, Lynn M.; Choi, Murim; Choate, Keith A.; Nelson-Williams, Carol J.; Farhi, Anita; Toka, Hakan R.; Tikhonova, Irina R.; Bjornson, Robert; Mane, Shrikant M.; Colussi, Giacomo; Lebel, Marcel; Gordon, Richard D.; Semmekrot, Ben A.; Poujol, Alain; Välimäki, Matti J.; De Ferrari, Maria E.; Sanjad, Sami A.; Gutkin, Michael; Karet, Fiona E.; Tucci, Joseph R.
Periodical
Jin, Sheng Chih; Lewis, Sara A.; Bakhtiari, Somayeh; Zeng, Xue; Sierant, Michael C.; Shetty, Sheetal; Nordlie, Sandra M.; Elie, Aureliane; Corbett, Mark A.; Norton, Bethany Y.; van Eyk, Clare L.; Haider, Shozeb; Guida, Brandon S.; Magee, Helen; Liu, James; Pastore, Stephen; Vincent, John B.; Brunstrom-Hernandez, Janice; Papavasileiou, Antigone; Fahey, Michael C.; Berry, Jesia G.; Harper, Kelly; Zhou, Chongchen; Zhang, Junhui; Li, Boyang; Zhao, Hongyu; Heim, Jennifer; Webber, Dani L.; Frank, Mahalia S. B.; Xia, Lei; Xu, Yiran; Zhu, Dengna; Zhang, Bohao; Sheth, Amar H.; Knight, James R.; Castaldi, Christopher; Tikhonova, Irina R.; López-Giráldez, Francesc; Keren, Boris; Whalen, Sandra; Buratti, Julien; Doummar, Diane; Cho, Megan; Retterer, Kyle; Millan, Francisca; Wang, Yangong; Waugh, Jeff L.; Rodan, Lance; Cohen, Julie S.; Fatemi, Ali; Lin, Angela E.; Phillips, John P.; Feyma, Timothy; MacLennan, Suzanna C.; Vaughan, Spencer; Crompton, Kylie E.; Reid, Susan M.; Reddihough, Dinah S.; Shang, Qing; Gao, Chao; Novak, Iona; Badawi, Nadia; Wilson, Yana A.; McIntyre, Sarah J.; Mane, Shrikant M.; Wang, Xiaoyang; Amor, David J.; Zarnescu, Daniela C.; Lu, Qiongshi; Xing, Qinghe; Zhu, Changlian; Bilguvar, Kaya; Padilla-Lopez, Sergio; Lifton, Richard P.; Gecz, Jozef; MacLennan, Alastair H.; Kruer, Michael C.
Nature Genetics; October 2020, Vol. 52 Issue: 10 p1046-1056, 11p
Academic Journal
Dong, Weilai; Nicolson, Norman G.; Choi, Jungmin; Barbieri, Andrea L.; Kunstman, John W.; Abou Azar, Sara; Knight, James; Bilguvar, Kaya; Mane, Shrikant M.; Lifton, Richard P.; Korah, Reju; Carling, Tobias
Genes, Chromosomes & Cancer; Dec2018, Vol. 57 Issue 12, p645-652, 8p
Periodical
Gauntner, Victoria C.; Daouk, Ghaleb H.; Napier, Melanie P.; Besouw, Martine T.; LaRosa, Christopher J.; Strong, Alanna; Mane, Shrikant M.; Shril, Shirlee; Chapman, Arlene B.; Hildebrandt, Friedhelm; Sayer, John A.; Majmundar, Amar J.
Journal of the American Society of Nephrology; November 2023, Vol. 34 Issue: 11, Number 11 Supplement 11 p938-938, 1p
Academic Journal
Wang, Chunyan; Seltzsam, Steve; Zheng, Bixia; Wu, Chen-Han Wilfred; Nicolas-Frank, Camille; Yousef, Kirollos; Au, Kit Sing; Mann, Nina; Pantel, Dalia; Schneider, Sophia; Schierbaum, Luca; Kitzler, Thomas M.; Connaughton, Dervla M.; Mao, Youying; Dai, Rufeng; Nakayama, Makiko; Kari, Jameela A.; El Desoky, Sherif; Shalaby, Mohammed; Eid, Loai A.; Awad, Hazem S.; Tasic, Velibor; Mane, Shrikant M.; Lifton, Richard P.; Baum, Michelle A.; Shril, Shirlee; Estrada, Carlos R.; Hildebrandt, Friedhelm
Academic Journal
Richard, Elodie M.; Bakhtiari, Somayeh; Marsh, Ashley P. L.; Kaiyrzhanov, Rauan; Wagner, Matias; Shetty, Sheetal; Pagnozzi, Alex; Nordlie, Sandra M.; Guida, Brandon S.; Cornejo, Patricia; Magee, Helen; Liu, James; Norton, Bethany Y.; Webster, Richard, I; Worgan, Lisa; Hakonarson, Hakon; Li, Jiankang; Guo, Yiran; Jain, Mahim; Blesson, Alyssa; Rodan, Lance H.; Abbott, Mary-Alice; Comi, Anne; Cohen, Julie S.; Alhaddad, Bader; Meitinger, Thomas; Lenz, Dominic; Ziegler, Andreas; Kotzaeridou, Urania; Brunet, Theresa; Chassevent, Anna; Smith-Hicks, Constance; Ekstein, Joseph; Weiden, Tzvi; Hahn, Andreas; Zharkinbekova, Nazira; Turnpenny, Peter; Tucci, Arianna; Yelton, Melissa; Horvath, Rita; Gungor, Serdal; Hiz, Semra; Oktay, Yavuz; Lochmuller, Hanns; Zollino, Marcella; ManuelaMorleo; Marangi, Giuseppe; Nigro, Vincenzo; Torella, Annalaura; Pinelli, Michele; Amenta, Simona; Husain, Ralf A.; Grossmann, Benita; Rapp, Marion; Steen, Claudia; Marquardt, Iris; Grimmel, Mona; Grasshoff, Ute; Korenke, G. Christoph; Owczarek-Lipska, Marta; Neidhardt, John; Radio, Francesca Clementinac; Mancini, Cecilia; Sepulveda, Dianela Judith Claps; Mc Walter, Kirsty; Begtrup, Amber; Crunk, Amy; Sacoto, Maria J. Guillen; Person, Richard; Schnur, Rhonda E.; Mancardi, Maria Margherita; Kreuder, Florian; Striano, Pasquale; Zara, Federico; Chung, Wendy K.; Marks, Warren A.; van Eyk, Clare L.; Webber, Dani L.; Corbett, Mark A.; Harper, Kelly; Berry, Jesia G.; Mac Lennan, Alastair H.; Gecz, Jozef; Tartaglia, Marco; Salpietro, Vincenzo; Christodoulou, John; Kaslin, Jan; Padilla-Lopez, Sergio; Bilguvar, Kaya; Munchau, Alexander; Ahmed, Zubair M.; Hufnagel, Robert B.; Fahey, Michael C.; Maroofian, Reza; Houlden, Henry; Sticht, Heinrich; Mane, Shrikant M.; LRad, Aboulfaz; Vona, Barbara; Jin, Sheng Chih; Haack, Tobias B.; Makowski, Christine; Hirsch, Yoel; Riazuddin, Saima; Kruer, Michael C.
Periodical
Connaughton, Dervla M.; Kennedy, Claire; Shril, Shirlee; Mann, Nina; Murray, Susan L.; Williams, Patrick A.; Conlon, Eoin; Nakayama, Makiko; van der Ven, Amelie T.; Ityel, Hadas; Kause, Franziska; Kolvenbach, Caroline M.; Dai, Rufeng; Vivante, Asaf; Braun, Daniela A.; Schneider, Ronen; Kitzler, Thomas M.; Moloney, Brona; Moran, Conor P.; Smyth, John S.; Kennedy, Alan; Benson, Katherine; Stapleton, Caragh; Denton, Mark; Magee, Colm; O’Seaghdha, Conall M.; Plant, William D.; Griffin, Matthew D.; Awan, Atif; Sweeney, Clodagh; Mane, Shrikant M.; Lifton, Richard P.; Griffin, Brenda; Leavey, Sean; Casserly, Liam; de Freitas, Declan G.; Holian, John; Dorman, Anthony; Doyle, Brendan; Lavin, Peter J.; Little, Mark A.; Conlon, Peter J.; Hildebrandt, Friedhelm
Kidney International; April 2019, Vol. 95 Issue: 4 p914-928, 15p
Academic Journal
Mekbib, Kedous Y.; Zhao, Shujuan; Nelson-Williams, Carol; Prendergast, Andrew; Zeng, Xue; Rolle, Myron; Shohfi, John; Smith, Hannah; Ocken, Jack; Moyer, Quentin; Piwowarczyk, Paulina; Allington, Garrett; Dong, Weilai; van der Ent, Martijn A.; Chen, Di; Li, Boyang; Duran, Daniel; Mane, Shrikant M.; Walcott, Brian Patrick; Stapleton, Christopher J.
Neurosurgery; 2023Supplement, Vol. 92, p22-22, 1p
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[AR] Mane, Shrikant M.
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