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1 |
Material Type: Artigo
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An Ancient Balanced Polymorphism in a Regulatory Region of Human Major Histocompatibility Complex Is Retained in Chinese Minorities but Lost WorldwideLiu, Xiaoyi ; Fu, Yonggui ; Liu, Zehuan ; Lin, Bin ; Xie, Yi ; Liu, Yin ; Xu, Yunpin ; Lin, Jianghai ; Fan, Xinlan ; Dong, Meiling ; Zeng, Kai ; Wu, Chung-I ; Xu, AnlongAmerican journal of human genetics, 2006-03, Vol.78 (3), p.393-400 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Assignment of the functional gene for human adrenodoxin to chromosome 11q13 arrow right qter and of adrenodoxin pseudogenes to chromosome 20cen arrow right q13.1Morel, Y ; Picado-Leonard, J ; Wu, Du-An ; Chang, Chi-Yao ; Mohandas, T K ; Chung, Bon-Chu ; Miller, W LAmerican journal of human genetics, 1988-01, Vol.43 (1), p.52-59 [Periódico revisado por pares]Texto completo disponível |
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Material Type: Artigo
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Assignment of the functional gene for human adrenodoxin to chromosome 11q13----qter and of adrenodoxin pseudogenes to chromosome 20cen----q13.1Morel, Y ; Picado-Leonard, J ; Wu, D A ; Chang, C Y ; Mohandas, T K ; Chung, B C ; Miller, W LAmerican journal of human genetics, 1988-07, Vol.43 (1), p.52-59 [Periódico revisado por pares]United StatesTexto completo disponível |
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Material Type: Artigo
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Assignment of the functional gene for human adrenodoxin to chromosome 11q13→pter and of adrenodoxin pseudogenes to chromosome 20cer13.1MOREL, Y ; PICADO-LEONARD, J ; DU-AN WU ; CHI-YAO CHANG ; MOHANDAS, T. K ; BON-CHU CHUNG ; MILLER, W. LAmerican journal of human genetics, 1988, Vol.43 (1), p.52-59 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
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5 |
Material Type: Artigo
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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndromeSalpietro, Vincenzo ; Maroofian, Reza ; Wangen, Jamie ; Ciolfi, Andrea ; Barresi, Sabina ; Efthymiou, Stephanie ; Aughey, Gabriel N. ; Al Mutairi, Fuad ; Accogli, Andrea ; Zara, Federico ; Tariq, Huma ; Rehman, Khalil Ur ; Abd Elmaksoud, Marwa ; El Said, Huda G. ; Al Shalan, Maha ; Khang, Rin ; Elbendary, Hasnaa M. ; Marinakis, Nikolaos M. ; Traeger-Synodinos, Joanne ; Ververi, Athina ; Sourmpi, Mara ; Khadivi Zand, Farhad ; Beiraghi Toosi, Mehran ; Hannah, Michael G. ; Bertini, Enrico ; Aguennouz, Mhammed ; Groppa, Stanislav ; Kathom, Hadil ; Tincheva, Radka ; Verrotti, Alberto ; Macaya, Alfons ; Garavaglia, Barbara ; Cortese, Andrea ; Sullivan, Roisin ; Papanicolaou, Eleni Z. ; Dardiotis, Efthymios ; Maqbool, Shazia ; Ibrahim, Shahnaz ; Rana, Nuzhat N. ; Atawneh, Osama ; Zuccotti, Gian V. ; Marseglia, Gian L. ; Shaikh, Farooq ; Corsello, Giovanni ; Mangano, Salvatore ; Koutsis, George ; Scuderi, Carmela ; Ferrara, Pietro ; Zollo, Massimo ; Berni-Canani, Roberto ; Sisto, Antonio ; Strano, Federica ; Di Francesco, Ludovica ; Salayev, Kamran ; Xiromerisiou, Georgia ; Munell, Francina ; Gagliano, Antonella ; Jan, Farida ; Chimenz, Roberto ; Di Rosa, Gabriella ; Pettoello-Mantovani, Massimo ; Tazir, Meriem ; Farello, Giovanni ; Delvecchio, Maurizio ; Di-Donato, Giulio ; Obeid, Makram ; Saadi, Nebal W. ; Maccarone, Rita ; Kara, Majdi ; Karimiani, Ehsan G. ; Seri, Marco ; Di-Falco, Giovanna ; Barrano, Giuseppe ; Operto, Francesca F. ; Valenzise, Mariella ; Matricardi, Sara ; Zafar, Faisal ; Ullah, Ehsan ; Afzal, Erum ; Rahman, Fatima ; De Filippo, Maria ; Licari, Amelia ; Trebbi, Edoardo ; Romano, Ferdinando ; Heimer, Gali ; Al-Khawaja, Issam ; Al-Mutairi, Fuad ; Shashkin, Chingiz ; Koneyev, Kairgali ; Pagnamenta, Alistair T. ; Corsello, Antonio ; Dallapiccola, Bruno ; Alobeid, Eman ; Mankad, Kshitij ; Ghayoor-Karimiani, Ehsan ; Chung, Wendy K. ; Green, Rachel ; Alkuraya, Fowzan S. ; Jepson, James E.C. ; Houlden, HenryAmerican journal of human genetics, 2024-01, Vol.111 (1), p.200-210 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational FunctionXu, Zhiwen ; Lo, Wing-Sze ; Beck, David B. ; Schuch, Luise A. ; Oláhová, Monika ; Kopajtich, Robert ; Chong, Yeeting E. ; Alston, Charlotte L. ; Seidl, Elias ; Zhai, Liting ; Lau, Ching-Fun ; Timchak, Donna ; LeDuc, Charles A. ; Borczuk, Alain C. ; Teich, Andrew F. ; Juusola, Jane ; Sofeso, Christina ; Müller, Christoph ; Pierre, Germaine ; Hilliard, Tom ; Turnpenny, Peter D. ; Wagner, Matias ; Kappler, Matthias ; Brasch, Frank ; Bouffard, John Paul ; Nangle, Leslie A. ; Yang, Xiang-Lei ; Zhang, Mingjie ; Taylor, Robert W. ; Prokisch, Holger ; Griese, Matthias ; Chung, Wendy K. ; Schimmel, PaulAmerican journal of human genetics, 2018-07, Vol.103 (1), p.100-114 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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7 |
Material Type: Artigo
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Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing lossRichard, Elodie M. ; Bakhtiari, Somayeh ; Marsh, Ashley P.L. ; Kaiyrzhanov, Rauan ; Wagner, Matias ; Shetty, Sheetal ; Pagnozzi, Alex ; Nordlie, Sandra M. ; Cornejo, Patricia ; Magee, Helen ; Liu, James ; Norton, Bethany Y. ; Webster, Richard I. ; 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 ; Morleo, Manuela ; 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 Clementina ; Mancini, Cecilia ; Claps Sepulveda, Dianela Judith ; McWalter, Kirsty ; Begtrup, Amber ; Crunk, Amy ; Guillen Sacoto, Maria J. ; 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. ; MacLennan, 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 ; Mane, Shrikant M. ; Rad, Aboulfazl ; Jin, Sheng Chih ; Haack, Tobias B. ; Makowski, Christine ; Hirsch, Yoel ; Riazuddin, Saima ; Kruer, Michael C.American journal of human genetics, 2021-10, Vol.108 (10), p.2006-2016 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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8 |
Material Type: Artigo
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CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex FormationHjeij, Rim ; Onoufriadis, Alexandros ; Watson, Christopher M. ; Slagle, Christopher E. ; Klena, Nikolai T. ; Dougherty, Gerard W. ; Kurkowiak, Małgorzata ; Loges, Niki T. ; Diggle, Christine P. ; Morante, Nicholas F.C. ; Gabriel, George C. ; Lemke, Kristi L. ; Li, You ; Pennekamp, Petra ; Menchen, Tabea ; Konert, Franziska ; Marthin, June Kehlet ; Mans, Dorus A. ; Letteboer, Stef J.F. ; Werner, Claudius ; Burgoyne, Thomas ; Westermann, Cordula ; Rutman, Andrew ; Carr, Ian M. ; O’Callaghan, Christopher ; Moya, Eduardo ; Chung, Eddie M.K. ; Sheridan, Eamonn ; Nielsen, Kim G. ; Roepman, Ronald ; Bartscherer, Kerstin ; Burdine, Rebecca D. ; Lo, Cecilia W. ; Omran, Heymut ; Mitchison, Hannah M.American journal of human genetics, 2014-09, Vol.95 (3), p.257-274 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related DisordersBrancati, Francesco ; Barrano, Giuseppe ; Silhavy, Jennifer L. ; Marsh, Sarah E. ; Travaglini, Lorena ; Bielas, Stephanie L. ; Amorini, Maria ; Zablocka, Dominika ; Kayserili, Hulya ; Al-Gazali, Lihadh ; Bertini, Enrico ; Boltshauser, Eugen ; D'Hooghe, Marc ; Fazzi, Elisa ; Fenerci, Elif Y. ; Hennekam, Raoul C.M. ; Kiss, Andrea ; Lees, Melissa M. ; Marco, Elysa ; Phadke, Shubha R. ; Rigoli, Luciana ; Romano, Stephane ; Salpietro, Carmelo D. ; Sherr, Elliott H. ; Signorini, Sabrina ; Stromme, Petter ; Stuart, Bernard ; Sztriha, Laszlo ; Viskochil, David H. ; Yuksel, Adnan ; Dallapiccola, Bruno ; Valente, Enza Maria ; Gleeson, Joseph G.American journal of human genetics, 2007-07, Vol.81 (1), p.104-113 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic MedicineGoddard, Katrina A.B. ; Jarvik, Gail P. ; Amendola, Laura M. ; Berg, Jonathan S. ; Blout, Carrie L. ; Brothers, Kyle B. ; Caga-anan, Charlisse F. ; Clayton, Ellen W. ; East, Kelly ; Evans, James P. ; Fullerton, Stephanie M. ; Holm, Ingrid A. ; Kaufman, David ; Knoppers, Bartha M. ; McCullough, Laurence ; McGuire, Amy ; Myers, Richard M. ; Nickerson, Deborah A. ; Robinson, Dan ; Salama, Joseph S. ; Scollon, Sarah ; Shirts, Brian ; Tabor, Holly K. ; Tarczy-Hornoch, Peter ; Veenstra, David L. ; Wagle, Nikhil ; Wynn, Julia ; Amendola, Laura ; Aronson, Samuel J. ; Arora, Shubhangi ; Azzariti, Danielle R. ; Biesecker, Barbara B. ; Byers, Peter H. ; Calikoglu, Muge G. ; Cirino, Allison L. ; Conlin, Laura K. ; Cooper, Greg M. ; Crosslin, David R. ; Davis, James V. ; Dugan, Noreen P. ; Exe, Nicole ; Fan, Zheng ; Filipski, Kelly ; Fishler, Kristen ; Ghrundmeier, Bob ; Gilmore, Marian J. ; Gordon, Adam S. ; Gornick, Michele C. ; Grady, William M. ; Gutierrez, Amanda M. ; Hensman, Naomi ; Himes, Patricia ; Hisama, Fuki M. ; Hull, Sara ; Joffe, Steve ; Karavite, Dean ; Kauffman, Tia L. ; Kaufman, Dave ; Kim, Jerry H. ; Klein, William ; Krantz, Ian ; Le, Lan Q. ; Lebo, Matthew S. ; Leo, Michael C. ; Lewis, Katie ; Lewis, Michelle ; Lindeman, Neal I. ; Lonigro, Bob ; Lose, Edward J. ; Lupo, Philip J. ; Machini, Kalotina ; Marchuk, Daniel S. ; McMullen, Carmit ; Miller, Victoria A. ; Moore, Elizabeth G. ; Ng, David ; Oliver, Nelly M. ; Parsons, Will ; Patrick, Donald L. ; Plon, Sharon ; Powell, Bradford C. ; Breitkopf, Carmen Radecki ; Raskind, Wendy H. ; Rini, Christine ; Robertson, Peggy D. ; Salama, Joseph ; Shirts, Brian H. ; Siddiqui, Javed ; Silverman, Elian ; Simmons, Shirley ; Simons, Janae V. ; Stoffel, Elena ; Tilley, Christian R. ; Tomlinson, Ashley ; Trinidad, Susan ; Ubel, Peter ; Walsh, Rebecca C. ; Wilfond, Ben ; Wilhelmsen, Kirk C. ; Young, CarolAmerican journal of human genetics, 2016-07, Vol.99 (1), p.246-246 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |