खोज परिणाम - Alaimo, Joseph T.
- प्रदर्शित 1 - 18 परिणाम 18
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Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder द्वारा Mullegama, Sureni V., Alaimo, Joseph T., Chen, Li, Elsea, Sarah H.
प्रकाशित 2015मूलपाठ -
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SLO-2 isoforms with unique Ca(2+)- and voltage-dependence characteristics confer sensitivity to hypoxia in C. elegans द्वारा Zhang, Zhe, Tang, Qiong-Yao, Alaimo, Joseph T., Davies, Andrew G., Bettinger, Jill C., Logothetis, Diomedes E.
प्रकाशित 2013मूलपाठ -
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Integrated Analysis of Metabolomic Profiling and Exome Data Supplements Sequence Variant Interpretation, Classification, and Diagnosis द्वारा Alaimo, Joseph T., Glinton, Kevin E., Liu, Ning, Xiao, Jing, Yang, Yaping, Sutton, V. Reid, Elsea, Sarah H.
प्रकाशित 2020मूलपाठ -
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TAB2 variants cause cardiovascular heart disease, connective tissue disorder and developmental delay द्वारा Hanson, Jennifer, Brezavar, Daniel, Hughes, Susan, Amudhavalli, Shivarajan, Fleming, Emily, Zhou, Dihong, Alaimo, Joseph T, Bonnen, Penelope E
प्रकाशित 2022मूलपाठ -
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RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki–Lupski Syndrome द्वारा Mullegama, Sureni V., Alaimo, Joseph T., Fountain, Michael D., Burns, Brooke, Balog, Amanda Hebert, Chen, Li, Elsea, Sarah H.
प्रकाशित 2017मूलपाठ -
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Ethanol Metabolism and Osmolarity Modify Behavioral Responses to Ethanol in C. elegans द्वारा Alaimo, Joseph T., Davis, Scott J., Song, Sam S., Burnette, Christopher R., Grotewiel, Mike, Shelton, Keith L., Pierce-Shimomura, Jonathan T., Davies, Andrew G., Bettinger, Jill C.
प्रकाशित 2012मूलपाठ -
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Loss‐of‐function mutations in ISCA2 disrupt 4Fe–4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletion द्वारा Alaimo, Joseph T., Besse, Arnaud, Alston, Charlotte L., Pang, Ki, Appadurai, Vivek, Samanta, Monisha, Smpokou, Patroula, McFarland, Robert, Taylor, Robert W., Bonnen, Penelope E.
प्रकाशित 2018मूलपाठ -
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Chloride Intracellular Channels modulate acute ethanol behaviors in Drosophila, C. elegans and mice द्वारा Bhandari, Poonam, S.Hill, Jennifer, Farris, Sean P., Costin, Blair, Martin, Ian, Chan, Chung- Lung, Alaimo, Joseph T., Bettinger, Jill C., Davies, Andrew G., Miles, Michael F., Grotewiel, Mike
प्रकाशित 2012मूलपाठ -
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Smith-Magenis syndrome patients often display antibody deficiency but not other immune pathologies द्वारा Perkins, Tiffany, Rosenberg, Jacob M., Le Coz, Carole, Alaimo, Joseph T, Trofa, Melissa, Mullegama, Sureni V, Antaya, Richard J, Jyonouchi, Soma, Elsea, Sarah H, Utz, Paul J, Meffre, Eric, Romberg, Neil
प्रकाशित 2017मूलपाठ -
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Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype द्वारा Chen, Li, Jensik, Philip J., Alaimo, Joseph T., Walkiewicz, Magdalena, Berger, Seth, Roeder, Elizabeth, Faqeih, Eissa A., Bernstein, Jonathan A., Smith, Ann C. M., Mullegama, Sureni V., Saffen, David W., Elsea, Sarah H.
प्रकाशित 2017मूलपाठ -
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Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency द्वारा Alston, Charlotte L., Veling, Mike T., Heidler, Juliana, Taylor, Lucie S., Alaimo, Joseph T., Sung, Andrew Y., He, Langping, Hopton, Sila, Broomfield, Alexander, Pavaine, Julija, Diaz, Jullianne, Leon, Eyby, Wolf, Philipp, McFarland, Robert, Prokisch, Holger, Wortmann, Saskia B., Bonnen, Penelope E., Wittig, Ilka, Pagliarini, David J., Taylor, Robert W.
प्रकाशित 2020मूलपाठ -
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Genomewide Association Study of Alcohol Dependence Identifies Risk Loci Altering Ethanol-response Behaviors in Model Organisms द्वारा Adkins, Amy E., Hack, Laura M., Bigdeli, Tim B., Williamson, Vernell S., McMichael, G. Omari, Mamdani, Mohammed, Edwards, Alexis, Aliev, Fazil, Chan, Robin F., Bhandari, Poonam, Raabe, Richard C., Alaimo, Joseph T., Blackwell, GinaMari G., Moscati, Arden A., Poland, Ryan S., Rood, Benjamin, Patterson, Diana G., Walsh, Dermot, Whitfield, John B., Zhu, Gu, Montgomery, Grant W., Henders, Anjali K., Martin, Nicholas G., Heath, Andrew C., Madden, Pamela A.F., Frank, Josef, Ridinger, Monika, Wodarz, Norbert, Soyka, Michael, Zill, Peter, Ising, Marcus, Nöthen, Markus M, Kiefer, Falk, Rietschel, Marcella, Gelernter, Joel, Sherva, Richard, Koesterer, Ryan, Almasy, Laura, Zhao, Hongyu, Kranzler, Henry R., Farrer, Lindsay A., Maher, Brion S., Prescott, Carol A., Dick, Danielle M., Bacanu, Silviu A., Mathies, Laura D., Davies, Andrew G., Vladimirov, Vladimir I., Grotewiel, Mike, Bowers, M. Scott, Bettinger, Jill C., Webb, Bradley T., Miles, Michael F., Kendler, Kenneth S., Riley, Brien P.
प्रकाशित 2017मूलपाठ -
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De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith... द्वारा Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, J. Lloyd, Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., Liu, Pengfei
प्रकाशित 2019मूलपाठ -
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Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with simila... द्वारा Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A., Suri, Mohnish, Lewis, Andrea M., Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O., Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T., Graham, Brett, Harris, Jill M., Gibson, James B., Pastore, Matthew, McBride, Kim L., Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A., Wierenga, Klaas J., Scott, Daryl A., Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Lloyd Holder Jr, J., Burrage, Lindsay C., Seaver, Laurie H., Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S., Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K., Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M., Gibbs, Richard A., Elsea, Sarah H., Posey, Jennifer E., Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M., Lupski, James R., Liu, Pengfei
प्रकाशित 2019मूलपाठ -
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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome द्वारा Drivas, Theodore G., Li, Dong, Nair, Divya, Alaimo, Joseph T., Alders, Mariëlle, Altmüller, Janine, Barakat, Tahsin Stefan, Bebin, E. Martina, Bertsch, Nicole L., Blackburn, Patrick R., Blesson, Alyssa, Bouman, Arjan M., Brockmann, Knut, Brunelle, Perrine, Burmeister, Margit, Cooper, Gregory M., Denecke, Jonas, Dieux-Coëslier, Anne, Dubbs, Holly, Ferrer, Alejandro, Gal, Danna, Bartik, Lauren E., Gunderson, Lauren B., Hasadsri, Linda, Jain, Mahim, Karimov, Catherine, Keena, Beth, Klee, Eric W., Kloth, Katja, Lace, Baiba, Macchiaiolo, Marina, Marcadier, Julien L., Milunsky, Jeff M., Napier, Melanie P., Ortiz-Gonzalez, Xilma R., Pichurin, Pavel N., Pinner, Jason, Powis, Zoe, Prasad, Chitra, Radio, Francesca Clementina, Rasmussen, Kristen J., Renaud, Deborah L., Rush, Eric T., Saunders, Carol, Selcen, Duygu, Seman, Ann R., Shinde, Deepali N., Smith, Erica D., Smol, Thomas, Snijders Blok, Lot, Stoler, Joan M., Tang, Sha, Tartaglia, Marco, Thompson, Michelle L., van de Kamp, Jiddeke M., Wang, Jingmin, Weise, Dagmar, Weiss, Karin, Woitschach, Rixa, Wollnik, Bernd, Yan, Huifang, Zackai, Elaine H., Zampino, Giuseppe, Campeau, Philippe, Bhoj, Elizabeth
प्रकाशित 2020मूलपाठ