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Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between
Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between
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Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

Berg, Jonathan S. ; Brothers, Kyle ; Clayton, Ellen W. ; Chung, Wendy ; Evans, Barbara J. ; Evans, James P. ; Fullerton, Stephanie M. ; Gallego, Carlos J. ; Garrison, Nanibaa’ A. ; Gray, Stacy W. ; Holm, Ingrid A. ; Kullo, Iftikhar J. ; Lehmann, Lisa Soleymani ; McCarty, Cathy ; Prows, Cynthia A. ; Rehm, Heidi L. ; Sharp, Richard R. ; Salama, Joseph ; Sanderson, Saskia ; Wolf, Wendy A. ; Myers, Melanie ; Vinks, Sander ; Crosslin, David ; Leppig, Kathy ; Wicklund, Cathy ; Chute, Christopher ; Lynch, John ; De Andrade, Mariza ; Heit, John ; Brilliant, Murray ; Kitchner, Terrie ; Ritchie, Marylyn ; Persell, Stephen ; Rasmussen-Torvik, Laura ; McGregor, Tracy ; Antommaria, Armand ; Chiavacci, Rosetta ; Ledbetter, David ; Williams, Janet ; Hartzler, Andrea ; Vitek, Carolyn R. Rohrer ; Frost, Norm ; Ferryman, Kadija ; Horowitz, Carol ; Zinberg, Randi ; Pan, Vivian ; Long, Rochelle ; Ramos, Erin ; Odgis, Jackie ; Wise, Anastasia ; Hull, Sara ; Gitlin, Jonathan ; Green, Robert ; Metterville, Danielle ; McGuire, Amy ; Kong, Sek Won ; Trinidad, Sue ; Veenstra, David ; Roche, Myra ; Skinner, Debra ; Raspberry, Kelly ; O’Daniel, Julianne ; Parsons, Will ; Eng, Christine ; Hilsenbeck, Susan ; Karavite, Dean ; Conlin, Laura ; Spinner, Nancy ; Krantz, Ian ; Falk, Marni ; Santani, Avni ; Dechene, Elizabeth ; Bernhardt, Barbara ; Schuetze, Scott ; Everett, Jessica ; Gornick, Michele Caroline ; Wilfond, Ben ; Tabor, Holly ; Lemke, Amy A. ; Goddard, Katrina ; East, Kelly ; Barsh, Greg ; Koenig, Barbara ; Van Allen, Eliezer ; Garber, Judy ; Zawati, Ma’n ; Lewis, Michelle ; Savage, Sarah ; Smith, Maureen ; Roychowdhury, Sameek ; Anan, Charlisse Caga ; Hindorff, Lucia ; Hutter, Carolyn ; King, Rosalind ; Li, Rongling ; Lockhart, Nicole ; McEwen, Jean ; Scholes, Derek ; Sun, Kathie ; Burke, Wylie

American journal of human genetics, 2014-06, Vol.94 (6), p.818-826 [Periódico revisado por pares]

United States: Elsevier Inc

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2
Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism
Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism
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Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism

Sass, Jörn Oliver ; Mohr, Verena ; Olbrich, Heike ; Engelke, Udo ; Horvath, Judit ; Fliegauf, Manfred ; Loges, Niki Tomas ; Schweitzer-Krantz, Susanne ; Moebus, Ralf ; Weiler, Polly ; Kispert, Andreas ; Superti-Furga, Andrea ; Wevers, Ron A. ; Omran, Heymut

American journal of human genetics, 2006-03, Vol.78 (3), p.401-409 [Periódico revisado por pares]

Chicago, IL: Elsevier Inc

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3
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Goddard, Katrina A.B. ; Bernhardt, Barbara A. ; Biswas, Sawona ; Bowling, Kevin M. ; Caga-anan, Charlisse F. ; Chinnaiyan, Arul M. ; Clayton, Ellen W. ; East, Kelly ; Garraway, Levi A. ; Garrett, Jeremy R. ; Gray, Stacy W. ; Hindorff, Lucia A. ; Lewis, Michelle Huckaby ; Hutter, Carolyn M. ; Janne, Pasi A. ; Knoppers, Bartha M. ; Krantz, Ian D. ; Manolio, Teri A. ; Nickerson, Deborah A. ; Ou, Jeffrey ; Parsons, Donald W. ; Petersen, Gloria M. ; Plon, Sharon E. ; Rehm, Heidi L. ; Robinson, Dan ; Salama, Joseph S. ; Scollon, Sarah ; Shirts, Brian ; Tabor, Holly K. ; Tarczy-Hornoch, Peter ; Appelbaum, Paul S. ; Arora, Shubhangi ; Brothers, Kyle B. ; Brown, Brian L. ; Caga-anan, Charlisse F. ; Calikoglu, Muge G. ; Christensen, Kurt D. ; Cirino, Allison L. ; Conlin, Laura K. ; Crosslin, David R. ; Davis, James V. ; Dorschner, Michael O. ; Dugan, Noreen P. ; Exe, Nicole ; Fishler, Kristen ; Ghrundmeier, Bob ; Gordon, Adam S. ; Gray, David E. ; Gray, Stacy W. ; Gutierrez, Amanda M. ; Hensman, Naomi ; Hiatt, Susan M. ; Himes, Patricia ; Horike-Pyne, Martha J. ; Hull, Sara ; Jensen, Brian C. ; Joffe, Steve ; Kaufman, Dave ; Kim, Jerry H. ; Klein, William ; Lambert, Michele P. ; Leo, Michael C. ; Lewis, Katie ; Lonigro, Bob ; Machini, Kalotina ; Manolio, Teri A. ; McCullough, Laurence ; McMullen, Carmit ; Mooney, Sean D. ; Moore, Elizabeth G. ; Muzny, Donna ; Ng, David ; Nickerson, Deborah A. ; Oliver, Nelly M. ; Parsons, Will ; Plon, Sharon ; Powell, Bradford C. ; Raesz-Martinez, Robin A. ; Raskind, Wendy H. ; Rehm, Heidi L. ; Reiss, Jacob A. ; Robertson, Peggy D. ; Robinson, Dan ; Salama, Joseph ; Scarano, Maria I. ; Sholl, Lynette M. ; Silverman, Elian ; Simmons, Shirley ; Spinner, Nancy B. ; Stoffel, Elena ; Tilley, Christian R. ; Trinidad, Susan ; Ubel, Peter ; Vassy, Jason L. ; Vries, Raymond D. ; Weck, Karen ; Wolf, Susan M. ; Wynn, Julia ; Yu, Joon-Ho ; Zikmund-Fisher, Brian J.

American journal of human genetics, 2016-06, Vol.98 (6), p.1051-1066 [Periódico revisado por pares]

United States: Elsevier Inc

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4
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
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A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

Helbig, Ingo ; Lopez-Hernandez, Tania ; Shor, Oded ; Galer, Peter ; Ganesan, Shiva ; Pendziwiat, Manuela ; Rademacher, Annika ; Ellis, Colin A. ; Hümpfer, Nadja ; Schwarz, Niklas ; Seiffert, Simone ; Peeden, Joseph ; Shen, Joseph ; Štěrbová, Katalin ; Hammer, Trine Bjørg ; Møller, Rikke S. ; Shinde, Deepali N. ; Tang, Sha ; Smith, Lacey ; Poduri, Annapurna ; Krause, Roland ; Benninger, Felix ; Helbig, Katherine L. ; Haucke, Volker ; Weber, Yvonne G. ; Balling, Rudi ; Barisic, Nina ; Baulac, Stéphanie ; Caglayan, Hande ; Craiu, Dana ; De Jonghe, Peter ; Depienne, Christel ; Guerrini, Renzo ; Hjalgrim, Helle ; Hoffman-Zacharska, Dorota ; Jähn, Johanna ; Klein, Karl Martin ; Koeleman, Bobby P.C. ; Komarek, Vladimir ; Leguern, Eric ; Lehesjoki, Anna-Elina ; Lemke, Johannes R. ; Lerche, Holger ; Linnankivi, Tarja ; Marini, Carla ; May, Patrick ; Muhle, Hiltrud ; Pal, Deb K. ; Palotie, Aarno ; Rosenow, Felix ; Schubert-Bast, Susanne ; Selmer, Kaja ; Serratosa, Jose M. ; Sisodiya, Sanjay ; Stephani, Ulrich ; Striano, Pasquale ; Suls, Arvid ; Talvik, Tiina ; von Spiczak, Sarah ; Weckhuysen, Sarah ; Zara, Federico ; Avillach, Paul ; Bartels, Anna ; Biswas, Sawona ; Bourgeois, Florence ; Devkota, Batsal ; Glauser, Tracy ; Hallinan, Barbara ; Heath, Allison ; Hirschhorn, Joel ; Kilbourn, Judson ; Kong, Sek Won ; Krantz, Ian ; Lee, In-Hee ; Mandl, Kenneth D. ; Marsh, Eric ; Sund, Kristen ; Taylor, Deanne ; White, Peter

American journal of human genetics, 2019-06, Vol.104 (6), p.1060-1072 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine
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Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine

Goddard, 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, Carol

American journal of human genetics, 2016-07, Vol.99 (1), p.246-246 [Periódico revisado por pares]

United States: Elsevier Inc

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6
Cornelia de Lange syndrome, cohesin, and beyond
Cornelia de Lange syndrome, cohesin, and beyond
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Cornelia de Lange syndrome, cohesin, and beyond

Liu, J ; Krantz, ID

Clinical genetics, 2009-10, Vol.76 (4), p.303-314 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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7
Mutation of the Drosophila melanogaster serotonin transporter dSERT impacts sleep, courtship, and feeding behaviors
Mutation of the Drosophila melanogaster serotonin transporter dSERT impacts sleep, courtship, and feeding behaviors
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Mutation of the Drosophila melanogaster serotonin transporter dSERT impacts sleep, courtship, and feeding behaviors

Knapp, Elizabeth M ; Kaiser, Andrea ; Arnold, Rebecca C ; Sampson, Maureen M ; Ruppert, Manuela ; Xu, Li ; Anderson, Matthew I ; Bonanno, Shivan L ; Scholz, Henrike ; Donlea, Jeffrey M ; Krantz, David E Griffith, Leslie

PLoS genetics, 2022-11, Vol.18 (11), p.e1010289 [Periódico revisado por pares]

United States: Public Library of Science

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8
Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome
Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome
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Mutation Spectrum and Genotype-Phenotype Correlation in Cornelia de Lange Syndrome

Mannini, Linda ; Cucco, Francesco ; Quarantotti, Valentina ; Krantz, Ian D. ; Musio, Antonio

Human mutation, 2013-12, Vol.34 (12), p.1589-1596 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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9
Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis
Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis
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Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis

Basel-Vanagaite, L. ; Wolf, L. ; Orin, M. ; Larizza, L. ; Gervasini, C. ; Krantz, I.D. ; Deardoff, M.A.

Clinical genetics, 2016-05, Vol.89 (5), p.557-563 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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10
Serotonergic modulation of visual neurons in Drosophila melanogaster
Serotonergic modulation of visual neurons in Drosophila melanogaster
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Serotonergic modulation of visual neurons in Drosophila melanogaster

Sampson, Maureen M ; Myers Gschweng, Katherine M ; Hardcastle, Ben J ; Bonanno, Shivan L ; Sizemore, Tyler R ; Arnold, Rebecca C ; Gao, Fuying ; Dacks, Andrew M ; Frye, Mark A ; Krantz, David E Desplan, Claude

PLoS genetics, 2020-08, Vol.16 (8), p.e1009003 [Periódico revisado por pares]

United States: Public Library of Science

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