Rezultati - Joseph T. Alaimo

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  1. 1
    Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder

    Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder od Sureni V. Mullegama, Joseph T. Alaimo, Li Chen, Sarah H. Elsea

    Izdano 2015
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  2. 2
    Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis

    Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis od Joseph T. Alaimo, Kevin E. Glinton, Ning Liu, Jing Xiao, Yaping Yang, V. Reid Sutton, Sarah H. Elsea

    Izdano 2020
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  3. 3
    Ethanol Metabolism and Osmolarity Modify Behavioral Responses to Ethanol in <i>C. elegans</i>

    Ethanol Metabolism and Osmolarity Modify Behavioral Responses to Ethanol in <i>C. elegans</i> od Joseph T. Alaimo, Scott J. Davis, Sam S. Song, Christopher R. Burnette, Mike Grotewiel, Keith L. Shelton, Jonathan T. Pierce, Andrew G. Davies, Jill C. Bettinger

    Izdano 2012
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  4. 4
    Chloride intracellular channels modulate acute ethanol behaviors in <i>Drosophila, Caenorhabditis elegans</i> and mice

    Chloride intracellular channels modulate acute ethanol behaviors in <i>Drosophila, Caenorhabditis elegans</i> and mice od P. Bhandari, John S. Hill, Sean P. Farris, B.N. Costin, Ian Martin, Chia‐Hsiang Chan, Joseph T. Alaimo, Jill C. Bettinger, Andrew G. Davies, M. F. Miles, Mike Grotewiel

    Izdano 2012
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  5. 5
    Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

    Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency od Charlotte L. Alston, Mike T. Veling, Juliana Heidler, Lucie S. Taylor, Joseph T. Alaimo, Andrew Y. Sung, Langping He, Sila Hopton, Alexander Broomfield, Julija Pavaine, Jullianne Diaz, Eyby Leon, Philipp Wolf, Robert McFarland, Holger Prokisch, Saskia B. Wortmann, Penelope E. Bonnen, Ilka Wittig, David J. Pagliarini, Robert W. Taylor

    Izdano 2019
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  6. 6
    Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement

    Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement od Marcella Zollino, Christiane Zweier, Ingrid D. Van Balkom, David A. Sweetser, Joseph T. Alaimo, Emilia K. Bijlsma, Jannine D. Cody, Sarah H. Elsea, Irina Giurgea, Marina Macchiaiolo, Robert Śmigiel, Ronald L. Thibert, Ingrid Benoist, Jill Clayton‐Smith, C.F. de Winter, Stijn Deckers, Anusha Gandhi, Sylvia Huisman, Dagmar R. J. Kempink, Frea H. Kruisinga, Vittoria Lamacchia, Giuseppe Marangi, Leonie A. Menke, Paul A. Mulder, Ann Nordgren, Alessandra Renieri, Sue Routledge, Carol Saunders, Agnieszka Stembalska, Hans van Balkom, Sandra Whalen, Raoul C. M. Hennekam

    Izdano 2019
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  7. 7
    Genomewide Association Study of Alcohol Dependence Identifies Risk Loci Altering Ethanol‐Response Behaviors in Model Organisms

    Genomewide Association Study of Alcohol Dependence Identifies Risk Loci Altering Ethanol‐Response Behaviors in Model Organisms od Amy Adkins, Laura M. Hack, Tim B. Bigdeli, Vernell Williamson, Gowon O. McMichael, Mohammed Mamdani, Alexis C. Edwards, Fazil Alıev, Robin F. Chan, Poonam Bhandari, Richard Raabe, Joseph T. Alaimo, GinaMari G. Blackwell, Arden Moscati, Ryan S. Poland, Benjamin Rood, Diana G. Patterson, Dermot Walsh, John B. Whitfield, Gu Zhu, Grant W. Montgomery, Anjali K. Henders, Nicholas G. Martin, Andrew C. Heath, Pamela A. F. Madden, Josef Frank, Monika Ridinger, Norbert Wodarz, Michael Soyka, Peter Zill, Marcus Ising, Markus M. Nöthen, Falk Kiefer, Marcella Rietschel, Joel Gelernter, Richard Sherva, Ryan Koesterer, Laura Almasy, Hongyu Zhao, Henry R. Kranzler, Lindsay A. Farrer, Brion S. Maher, Carol A. Prescott, Danielle M. Dick, Silviu‐Alin Bacanu, Laura D. Mathies, Andrew G. Davies, Vladimir I. Vladimirov, Mike Grotewiel, M. Scott Bowers, Jill C. Bettinger, Bradley T. Webb, Michael F. Miles, Kenneth S. Kendler, Brien P. Riley

    Izdano 2017
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  8. 8
    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome

    De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith... od Francesco Vetrini, Shane McKee, Jill A. Rosenfeld, Mohnish Suri, Andrea M. Lewis, Kimberly Nugent, Elizabeth Roeder, Rebecca O. Littlejohn, Sue Holder, Wenmiao Zhu, Joseph T. Alaimo, Brett H. Graham, Jill M. Harris, James B. Gibson, Matthew Pastore, Kim L. McBride, Makanko Komara, Lihadh Al‐Gazali, Aisha Al Shamsi, Elizabeth A. Fanning, Klaas J. Wierenga, Daryl A. Scott, Ziva Ben‐Neriah, Vardiella Meiner, Hanoch Cassuto, Orly Elpeleg, J. Lloyd Holder, Lindsay C. Burrage, Laurie H. Seaver, Lionel Van Maldergem, Sonal Mahida, Janet S. Soul, Margaret Marlatt, Ludmila Matyakhina, Julie Vogt, June-Anne Gold, Soo-Mi Park, Vinod Varghese, Anne Katrin Lampe, Ajith Kumar, Melissa Lees, Muriel Holder‐Espinasse, Vivienne McConnell, Birgitta Bernhard, Ed Blair, Victoria Harrison, Donna M. Muzny, Richard A. Gibbs, Sarah H. Elsea, Jennifer E. Posey, Weimin Bi, Seema R. Lalani, Fan Xia, Yaping Yang, Christine M. Eng, James R. Lupski, Pengfei Liu

    Izdano 2019
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  9. 9
    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome

    A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome od Theodore G. Drivas, Dong Li, Divya Nair, Joseph T. Alaimo, Mariëlle Alders, Janine Altmüller, Tahsin Stefan Barakat, E. Martina Bebin, Nicole L. Bertsch, Patrick R. Blackburn, Alyssa Blesson, Arjan Bouman, Knut Brockmann, Perrine Brunelle, Margit Burmeister, Gregory M. Cooper, Jonas Denecke, Anne Dieux‐Coëslier, Holly Dubbs, Alejandro Ferrer, Danna Gal, Lauren Bartik, Lauren Gunderson, Linda Hasadsri, Mahim Jain, Catherine Karimov, Beth Keena, Eric W. Klee, Katja Kloth, Baiba Lāce, Marina Macchiaiolo, Julien L. Marcadier, Jeff M. Milunsky, Melanie P. Napier, Xilma R. Ortiz‐González, Pavel N. Pichurin, Jason Pinner, Zöe Powis, Chitra Prasad, Francesca Clementina Radio, Kristen Rasmussen, Deborah L. Renaud, Eric T. Rush, Carol Saunders, Duygu Selcen, Ann Seman, Deepali N. Shinde, Erica D. Smith, Thomas Smol, Lot Snijders Blok, Joan M. Stoler, Sha Tang, Marco Tartaglia, Michelle L. Thompson, Jiddeke M. van de Kamp, Jingmin Wang, Dagmar Weise, Karin Weiss, Rixa Woitschach, Bernd Wollnik, Huifang Yan, Elaine H. Zackai, Giuseppe Zampino, Philippe M. Campeau, Elizabeth Bhoj

    Izdano 2020
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  10. 10
    The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

    The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change od Heidi L. Rehm, Joseph T. Alaimo, Swaroop Aradhya, Pınar Bayrak‐Toydemir, Hunter Best, Rhonda Brandon, Jillian G. Buchan, Elizabeth Chao, Elaine Chen, Jacob Clifford, Ana S.A. Cohen, Laura K. Conlin, Soma Das, Kyle Davis, Daniela del Gaudio, Florencia Del Viso, Christina DiVincenzo, Marcia Eisenberg, Lucia Guidugli, Monia Hammer, Steven M. Harrison, Kathryn E. Hatchell, Lindsay Havens Dyer, Lily Hoang, James Holt, Vaidehi Jobanputra, Izabela Karbassi, Hutton M. Kearney, Melissa Kelly, Jacob M. Kelly, Michelle L. Kluge, Timothy Komala, Paul Kruszka, Lynette Lau, Matthew S. Lebo, Christian R. Marshall, Dianalee McKnight, Kirsty McWalter, Yan Meng, Narasimhan Nagan, Christian S. Neckelmann, Nir Neerman, Zhiyv Niu, Vitoria Paolillo, Sarah A Paolucci, Denise Perry, Tina Pesaran, Kelly Radtke, Kristen Rasmussen, Kyle Retterer, Carol Saunders, Elizabeth Spiteri, Christine M. Stanley, Anna Szuto, Ryan J. Taft, Isabelle Thiffault, Brittany C. Thomas, Amanda Thomas‐Wilson, Erin Thorpe, Timothy Tidwell, Meghan C. Towne, Hana Zouk, Christian Marshall, Linyan Meng, Vaidehi Jobanputra, Ryan J. Taft, Euan A. Ashley, Ghunwa Nakouzi, Wei Shen, Stephen F. Kingsmore, Heidi L. Rehm

    Izdano 2023
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  11. 11
    Genomic answers for children: Dynamic analyses of &gt;1000 pediatric rare disease genomes

    Genomic answers for children: Dynamic analyses of &gt;1000 pediatric rare disease genomes od Ana S.A. Cohen, Emily Farrow, Ahmed Abdelmoity, Joseph T. Alaimo, Shivarajan Amudhavalli, John T. Anderson, Lalit Bansal, Lauren Bartik, Primo Baybayan, Bradley Belden, Courtney Berrios, Rebecca Biswell, Pawel Buczkowicz, Orion J. Buske, Shreyasee Chakraborty, Warren Cheung, Keith A. Coffman, Ashley M. Cooper, Laura Cross, Tom Curran, Thuy Tien T. Dang, Mary Elfrink, Kendra Engleman, Erin Fecske, Cynthia Fieser, Keely Fitzgerald, Emily Fleming, Randi Gadea, Jennifer Gannon, Rose Gelineau‐Morel, Margaret Gibson, Jeffrey A. Goldstein, Elin Grundberg, Kelsee Halpin, Brian S. Harvey, Bryce A. Heese, Wendy Hein, Suzanne Herd, Susan Hughes, Mohammed Ilyas, Jill D. Jacobson, Janda Jenkins, Jiang Shao, Jeffrey Johnston, Kathryn Keeler, Jonas Korlach, Jennifer Kussmann, Christine Lambert, Caitlin E. Lawson, Jean‐Baptiste Le Pichon, J. Steven Leeder, Vicki C. Little, Daniel Louiselle, Michael Lypka, Brittany McDonald, Neil Miller, Ann Modrcin, Annapoorna Nair, Shelby H. Neal, Christopher M. Oermann, Donna Pacicca, Kailash Pawar, Nyshele Posey, Nigel Price, Laura Puckett, Julio Quezada, Nikita Raje, William J. Rowell, Eric T. Rush, Venkatesh Sampath, Carol Saunders, Caitlin Schwager, Richard M. Schwend, Elizabeth Shaffer, Craig Smail, Sarah Soden, Meghan E. Strenk, Bonnie Sullivan, Brooke Sweeney, Jade Tam‐Williams, Adam M. Walter, Holly Welsh, Aaron M. Wenger, Laurel K. Willig, Yun Yan, Scott T. Younger, Dihong Zhou, Tricia Zion, Isabelle Thiffault, Tomi Pastinen

    Izdano 2022
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