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Refinado por: Nome da Publicação: American Journal Of Human Genetics remover Nome da Publicação: The American Journal Of Human Genetics remover
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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Lehman, Anna ; Thouta, Samrat ; Mancini, Grazia M.S. ; Naidu, Sakkubai ; van Slegtenhorst, Marjon ; McWalter, Kirsty ; Person, Richard ; Mwenifumbo, Jill ; Salvarinova, Ramona ; Adam, Shelin ; du Souich, Christèle ; Elliott, Alison M. ; Lehman, Anna ; Mwenifumbo, Jill ; Nelson, Tanya N. ; van Karnebeek, Clara ; Friedman, Jan M. ; Boelman, Cyrus ; Bolbocean, Corneliu ; Buerki, Sarah E. ; Candido, Tara ; Eydoux, Patrice ; Evans, Daniel M. ; Gibson, William ; Horvath, Gabriella ; Huh, Linda ; Sinclair, Graham ; Tarling, Tamsin ; Toyota, Eric B. ; Townsend, Katelin N. ; Van Allen, Margot I. ; Vercauteren, Suzanne ; Guella, Ilaria ; McKenzie, Marna B. ; Datta, Anita ; Connolly, Mary B. ; Kalkhoran, Somayeh Mojard ; Poburko, Damon ; Friedman, Jan M. ; Farrer, Matthew J. ; Demos, Michelle ; Desai, Sonal ; Claydon, Thomas

American journal of human genetics, 2017-07, Vol.101 (1), p.65-74 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome
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Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

Manzini, M. Chiara ; Tambunan, Dimira E. ; Hill, R. Sean ; Yu, Tim W. ; Maynard, Thomas M. ; Heinzen, Erin L. ; Shianna, Kevin V. ; Stevens, Christine R. ; Partlow, Jennifer N. ; Barry, Brenda J. ; Rodriguez, Jacqueline ; Gupta, Vandana A. ; Al-Qudah, Abdel-Karim ; Eyaid, Wafaa M. ; Friedman, Jan M. ; Salih, Mustafa A. ; Clark, Robin ; Moroni, Isabella ; Mora, Marina ; Beggs, Alan H. ; Gabriel, Stacey B. ; Walsh, Christopher A.

American journal of human genetics, 2012-09, Vol.91 (3), p.541-547 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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3
DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation
DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation
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DNA Methylation Analysis Identifies Loci for Blood Pressure Regulation

Richard, Melissa A. ; Huan, Tianxiao ; Ligthart, Symen ; Gondalia, Rahul ; Jhun, Min A. ; Brody, Jennifer A. ; Irvin, Marguerite R. ; Montasser, May E. ; Jia, Yucheng ; Syme, Catriona ; Salfati, Elias L. ; Boerwinkle, Eric ; Guan, Weihua ; Mosley, Thomas H. ; Bressler, Jan ; Morrison, Alanna C. ; Liu, Chunyu ; Mendelson, Michael M. ; Uitterlinden, André G. ; van Meurs, Joyce B. ; ’t Hoen, Peter A.C. ; van Meurs, Joyce ; Isaacs, Aaron ; Franke, Lude ; Boomsma, Dorret I. ; Pool, René ; Hottenga, Jouke J. ; van Greevenbroek, Marleen M.J. ; Stehouwer, Coen D.A. ; Wijmenga, Cisca ; Zhernakova, Alexandra ; Slagboom, P. Eline ; Beekman, Marian ; Deelen, Joris ; van Heemst, Diana ; Veldink, Jan H. ; van den Berg, Leonard H. ; van Duijn, Cornelia M. ; Hofman, Albert ; Uitterlinden, André G. ; Jhamai, P. Mila ; Verbiest, Michael ; Suchiman, H. Eka D. ; Verkerk, Marijn ; van der Breggen, Ruud ; van Rooij, Jeroen ; Lakenberg, Nico ; Mei, Hailiang ; van Iterson, Maarten ; van Galen, Michiel ; Bot, Jan ; Nooren, Irene ; Moed, Matthijs ; Vermaat, Martijn ; Zhernakova, Dasha V. ; Luijk, René ; Bonder, Marc Jan ; van Dijk, Freerk ; Arindrarto, Wibowo ; Kielbasa, Szymon M. ; Swertz, Morris A. ; van Zwet, Erik W. ; Franco, Oscar H. ; Zhang, Guosheng ; Li, Yun ; Stewart, James D. ; Bis, Joshua C. ; Psaty, Bruce M. ; Chen, Yii-Der Ida ; Kardia, Sharon L.R. ; Zhao, Wei ; Absher, Devin ; Aslibekyan, Stella ; Starr, John M. ; McRae, Allan F. ; Schwartz, Joel D. ; Vokonas, Pantel S. ; Menni, Cristina ; Spector, Tim D. ; Shuldiner, Alan ; Damcott, Coleen M. ; Rotter, Jerome I. ; Palmas, Walter ; Liu, Yongmei ; Paus, Tomáš ; Horvath, Steve ; O’Connell, Jeffrey R. ; Guo, Xiuqing ; Pausova, Zdenka ; Assimes, Themistocles L. ; Sotoodehnia, Nona ; Smith, Jennifer A. ; Arnett, Donna K. ; Deary, Ian J. ; Baccarelli, Andrea A. ; Bell, Jordana T. ; Whitsel, Eric ; Dehghan, Abbas ; Levy, Daniel ; Fornage, Myriam

American journal of human genetics, 2017-12, Vol.101 (6), p.888-902 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease
Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease
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Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

Saada, Ann ; Vogel, Rutger O. ; Hoefs, Saskia J. ; van den Brand, Mariël A. ; Wessels, Hans J. ; Willems, Peter H. ; Venselaar, Hanka ; Shaag, Avraham ; Barghuti, Flora ; Reish, Orit ; Shohat, Mordechai ; Huynen, Martijn A. ; Smeitink, Jan A.M. ; van den Heuvel, Lambert P. ; Nijtmans, Leo G.

American journal of human genetics, 2009-06, Vol.84 (6), p.718-727 [Periódico revisado por pares]

Cambridge, MA: Elsevier Inc

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5
Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations
Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations
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Mutations within the MGC4607 Gene Cause Cerebral Cavernous Malformations

Denier, C. ; Goutagny, S. ; Labauge, P. ; Krivosic, V. ; Arnoult, M ; Cousin, A. ; Benabid, A.L. ; Comoy, J. ; Frerebeau, P. ; Gilbert, B. ; Houtteville, J.P. ; Jan, M. ; Lapierre, F. ; Loiseau, H. ; Menei, P. ; Mercier, P. ; Moreau, J.J. ; Nivelon-Chevallier, A. ; Parker, F. ; Redondo, A.M. ; Scarabin, J.M. ; Tremoulet, M. ; Zerah, M. ; Maciazek, J. ; Tournier-Lasserve, E.

American journal of human genetics, 2004-02, Vol.74 (2), p.326-337 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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6
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes
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Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes

Michailidou, Kyriaki ; Fachal, Laura ; Lee, Andrew ; Wang, Qin ; Yang, Xin ; Adank, Muriel A. ; Aittomäki, Kristiina ; Andrulis, Irene L. ; Antonenkova, Natalia N. ; Arndt, Volker ; Auer, Paul L. ; Auvinen, Päivi ; Barrdahl, Myrto ; Beane Freeman, Laura E. ; Beckmann, Matthias W. ; Benitez, Javier ; Bermisheva, Marina ; Bogdanova, Natalia V. ; Bonanni, Bernardo ; Brauch, Hiltrud ; Brooks-Wilson, Angela ; Brucker, Sara Y. ; Brüning, Thomas ; Campa, Daniele ; Chlebowski, Rowan ; Cordina-Duverger, Emilie ; Daly, Mary B. ; dos-Santos-Silva, Isabel ; Dumont, Martine ; Dwek, Miriam ; Eliassen, A. Heather ; Ellberg, Carolina ; Evans, D. Gareth ; Försti, Asta ; Gabrielson, Marike ; Gago-Dominguez, Manuela ; García-Sáenz, José A. ; Gaudet, Mia M. ; Giles, Graham G. ; Gilyazova, Irina R. ; Grenaker Alnæs, Grethe I. ; Grip, Mervi ; Gronwald, Jacek ; Grundy, Anne ; Hahnen, Eric ; Hart, Steven N. ; Heyworth, Jane ; Hoover, Robert N. ; Jakubowska, Anna ; Jones, Michael E. ; Kaaks, Rudolf ; Kerin, Michael J. ; Kiiski, Johanna I. ; Knight, Julia A. ; Krüger, Ute ; Kühl, Tabea ; Lambrechts, Diether ; Lee, Eunjung ; Lejbkowicz, Flavio ; Lissowska, Jolanta ; MacInnis, Robert J. ; Makalic, Enes ; Maleva Kostovska, Ivana ; Manoukian, Siranoush ; Martinez, Maria Elena ; McLean, Catriona ; Menon, Usha ; Miller, Nicola ; Mulligan, Anna Marie ; Neven, Patrick ; Pérez-Barrios, Clara ; Polley, Eric C. ; Prokofyeva, Darya ; Purrington, Kristen ; Pylkäs, Katri ; Rack, Brigitte ; Rau-Murthy, Rohini ; Schmidt, Daniel F. ; Schmutzler, Rita K. ; Scott, Rodney J. ; Shu, Xiao-Ou ; Slager, Susan ; Southey, Melissa C. ; Stegmaier, Christa ; Stone, Jennifer ; Tamimi, Rulla M. ; Tapper, William J. ; Taylor, Jack A. ; Terry, Mary Beth ; Tollenaar, Rob A.E.M. ; Tzardi, Maria ; van Veen, Elke M. ; Weinberg, Clarice R. ; Yang, Xiaohong R. ; Zhang, Yan ; Dunning, Alison M. ; Chenevix-Trench, Georgia ; Milne, Roger L. ; Chatterjee, Nilanjan ; Kraft, Peter

American journal of human genetics, 2019-01, Vol.104 (1), p.21-34 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations
Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations
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Identification of a Novel LRRK2 Mutation Linked to Autosomal Dominant Parkinsonism: Evidence of a Common Founder across European Populations

Kachergus, Jennifer ; Mata, Ignacio F. ; Hulihan, Mary ; Taylor, Julie P. ; Lincoln, Sarah ; Aasly, Jan ; Gibson, J. Mark ; Ross, Owen A. ; Lynch, Timothy ; Wiley, Joseph ; Payami, Haydeh ; Nutt, John ; Maraganore, Demetrius M. ; Czyzewski, Krzysztof ; Styczynska, Maria ; Wszolek, Zbigniew K. ; Farrer, Matthew J. ; Toft, Mathias

American journal of human genetics, 2005-04, Vol.76 (4), p.672-680 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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8
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies
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Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies

Auer-Grumbach, Michaela ; Toegel, Stefan ; Schabhüttl, Maria ; Weinmann, Daniela ; Chiari, Catharina ; Bennett, David L.H. ; Beetz, Christian ; Klein, Dennis ; Andersen, Peter M. ; Böhme, Ilka ; Fink-Puches, Regina ; Gonzalez, Michael ; Harms, Matthew B. ; Motley, William ; Reilly, Mary M. ; Renner, Wilfried ; Rudnik-Schöneborn, Sabine ; Schlotter-Weigel, Beate ; Themistocleous, Andreas C. ; Weishaupt, Jochen H. ; Ludolph, Albert C. ; Wieland, Thomas ; Tao, Feifei ; Abreu, Lisa ; Windhager, Reinhard ; Zitzelsberger, Manuela ; Strom, Tim M. ; Walther, Thomas ; Scherer, Steven S. ; Züchner, Stephan ; Martini, Rudolf ; Senderek, Jan

American journal of human genetics, 2016-09, Vol.99 (3), p.607-623 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans
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Defects in the IFT-B Component IFT172 Cause Jeune and Mainzer-Saldino Syndromes in Humans

Halbritter, Jan ; Bizet, Albane A. ; Schmidts, Miriam ; Porath, Jonathan D. ; Braun, Daniela A. ; Gee, Heon Yung ; McInerney-Leo, Aideen M. ; Krug, Pauline ; Filhol, Emilie ; Davis, Erica E. ; Airik, Rannar ; Czarnecki, Peter G. ; Lehman, Anna M. ; Trnka, Peter ; Nitschké, Patrick ; Bole-Feysot, Christine ; Schueler, Markus ; Knebelmann, Bertrand ; Burtey, Stéphane ; Szabó, Attila J. ; Tory, Kálmán ; Leo, Paul J. ; Gardiner, Brooke ; McKenzie, Fiona A. ; Zankl, Andreas ; Brown, Matthew A. ; Hartley, Jane L. ; Maher, Eamonn R. ; Li, Chunmei ; Leroux, Michel R. ; Scambler, Peter J. ; Zhan, Shing H. ; Jones, Steven J. ; Kayserili, Hülya ; Tuysuz, Beyhan ; Moorani, Khemchand N. ; Constantinescu, Alexandru ; Krantz, Ian D. ; Kaplan, Bernard S. ; Shah, Jagesh V. ; Hurd, Toby W. ; Doherty, Dan ; Katsanis, Nicholas ; Duncan, Emma L. ; Otto, Edgar A. ; Beales, Philip L. ; Mitchison, Hannah M. ; Saunier, Sophie ; Hildebrandt, Friedhelm

American journal of human genetics, 2013-11, Vol.93 (5), p.915-925 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia
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Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia

Austin-Tse, Christina ; Halbritter, Jan ; Zariwala, Maimoona A. ; Gilberti, Renée M. ; Gee, Heon Yung ; Hellman, Nathan ; Pathak, Narendra ; Liu, Yan ; Panizzi, Jennifer R. ; Patel-King, Ramila S. ; Tritschler, Douglas ; Bower, Raqual ; O’Toole, Eileen ; Porath, Jonathan D. ; Hurd, Toby W. ; Chaki, Moumita ; Diaz, Katrina A. ; Kohl, Stefan ; Lovric, Svjetlana ; Hwang, Daw-Yang ; Braun, Daniela A. ; Schueler, Markus ; Airik, Rannar ; Otto, Edgar A. ; Leigh, Margaret W. ; Noone, Peadar G. ; Carson, Johnny L. ; Davis, Stephanie D. ; Pittman, Jessica E. ; Ferkol, Thomas W. ; Atkinson, Jeffry J. ; Olivier, Kenneth N. ; Sagel, Scott D. ; Dell, Sharon D. ; Rosenfeld, Margaret ; Milla, Carlos E. ; Loges, Niki T. ; Omran, Heymut ; Porter, Mary E. ; King, Stephen M. ; Knowles, Michael R. ; Drummond, Iain A. ; Hildebrandt, Friedhelm

American journal of human genetics, 2013-10, Vol.93 (4), p.672-686 [Periódico revisado por pares]

United States: Elsevier Inc

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