Výsledky vyhledávání - Paldeep S. Atwal

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  1. 1
    Holocarboxylase synthetase deficiency pre and post newborn screening

    Holocarboxylase synthetase deficiency pre and post newborn screening Autor Taraka Donti, Patrick R. Blackburn, Paldeep S. Atwal

    Vydáno 2016
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  2. 2
    Observed frequency and challenges of variant reclassification in a hereditary cancer clinic

    Observed frequency and challenges of variant reclassification in a hereditary cancer clinic Autor Sarah Macklin, Nisha Durand, Paldeep S. Atwal, Stephanie L. Hines

    Vydáno 2017
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  3. 3
    Sex differences in inflammation, redox biology, mitochondria and autoimmunity

    Sex differences in inflammation, redox biology, mitochondria and autoimmunity Autor Damian N. Di Florio, Jon Sin, Michael J. Coronado, Paldeep S. Atwal, DeLisa Fairweather

    Vydáno 2020
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  4. 4
    Sex Differences, Genetic and Environmental Influences on Dilated Cardiomyopathy

    Sex Differences, Genetic and Environmental Influences on Dilated Cardiomyopathy Autor Angita Jain, Nadine Norton, Katelyn A. Bruno, Leslie T. Cooper, Paldeep S. Atwal, DeLisa Fairweather

    Vydáno 2021
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  5. 5
    Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain

    Structural Models for the Dynamic Effects of Loss-of-Function Variants in the Human SIM1 Protein Transcriptional Activation Domain Autor Matt Coban, Patrick R. Blackburn, Murray L. Whitelaw, Mieke M. van Haelst, Paldeep S. Atwal, Thomas R. Caulfield

    Vydáno 2020
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  6. 6
    Maple syrup urine disease: mechanisms and management

    Maple syrup urine disease: mechanisms and management Autor Patrick Blackburn, Jennifer Gass, Filippo Pinto e Vairo, Kristen Farnham, Herjot Atwal, Sarah Macklin, Eric W. Klee, Paldeep S. Atwal

    Vydáno 2017
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  7. 7
    Clinical whole-exome sequencing: are we there yet?

    Clinical whole-exome sequencing: are we there yet? Autor Paldeep S. Atwal, Marie-Louise Brennan, Rachel Cox, Michael Niaki, Julia Platt, Margaret Homeyer, Andrea Kwan, Sylvie Parkin, Susan Schelley, Leah Slattery, Yael Wilnai, Jonathan A. Bernstein, Gregory M. Enns, Louanne Hudgins

    Vydáno 2014
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  8. 8
    Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum

    Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum Autor Taraka Donti, Gerarda Cappuccio, Leroy Hubert, Juanita Neira, Paldeep S. Atwal, Marcus J. Miller, Aaron L. Cardon, V. Reid Sutton, Brenda E. Porter, Fiona M. Baumer, Michael F. Wangler, Qin Sun, Lisa Emrick, Sarah H. Elsea

    Vydáno 2016
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  9. 9
    Biparental Inheritance of Mitochondrial DNA in Humans

    Biparental Inheritance of Mitochondrial DNA in Humans Autor Shiyu Luo, C. Alexander Valencia, Jinglan Zhang, Ni‐Chung Lee, Jesse Slone, Baoheng Gui, Xinjian Wang, Zhuo Li, Sarah Dell, Jenice Brown, Stella Maris Chen, Yin‐Hsiu Chien, Wuh‐Liang Hwu, Pi‐Chuan Fan, Lee-Jun Wong, Paldeep S. Atwal, Taosheng Huang

    Vydáno 2018
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  10. 10
    Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome

    Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome Autor Patrick R. Blackburn, Xu Zhi, Kathleen E. Tumelty, Rose Zhao, William J. Monis, Kimberly G. Harris, Jennifer Gass, Margot A. Cousin, Nicole J. Boczek, Mario Mitkov, Mark A. Cappel, Clair A. Francomano, Joseph E. Parisi, Eric W. Klee, Eissa Faqeih, Fowzan S. Alkuraya, Matthew D. Layne, Nazli B. McDonnell, Paldeep S. Atwal

    Vydáno 2018
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  11. 11
    Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure

    Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure Autor Markus Reichold, Enriko Klootwijk, Jörg Reinders, Edgar A. Otto, Mario Milani, Carsten Broeker, Chris Laing, J. Wiesner, Sulochana Devi, Weibin Zhou, Roland Schmitt, Ines Tegtmeier, Christina Sterner, Hannes Doellerer, Kathrin Renner, Peter J. Oefner, Katja Dettmer, Johann M.B. Simbuerger, Ralph Witzgall, Horia Stanescu, Simona Dumitriu, Daniela Iancu, Vaksha Patel, Monika Mozere, Mehmet Tekman, Graciana Jaureguiberry, Naomi Issler, Anne Kesselheim, Stephen B. Walsh, Daniel P. Gale, Alexander J. Howie, Joana Raquel Martins, Andrew M. Hall, Michael Kasgharian, Kevin O’Brien, Carlos R. Ferreira, Paldeep S. Atwal, Mahim Jain, Alexander Hammers, Geoff Charles‐Edwards, Chi‐un Choe, Dirk Isbrandt, Alberto Cebrian-Serrano, Benjamin Davies, Richard Sandford, Christopher W. Pugh, David Konecki, Sue Povey, Detlef Böckenhauer, Uta Lichter‐Konecki, William A. Gahl, Robert J. Unwin, Richard Warth, Robert Kleta

    Vydáno 2018
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  12. 12
    De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

    De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms Autor Sandra Jansen, Ilse van der Werf, A. Micheil Innes, Alexandra Afenjar, Pankaj B. Agrawal, Ilse J. Anderson, Paldeep S. Atwal, Ellen van Binsbergen, Marie-José van den Boogaard, Lucia Castiglia, Zeynep Coban‐Akdemir, Anke Van Dijck, Diane Doummar, Albertien M. van Eerde, Anthonie J. van Essen, Koen L.I. van Gassen, María J. Guillen Sacoto, Mieke M. van Haelst, Ivan Iossifov, Jessica L. Jackson, Elizabeth Judd, Charu Kaiwar, Boris Keren, Eric W. Klee, Jolien S. Klein Wassink‐Ruiter, Marije Meuwissen, Kristin G. Monaghan, Sonja A. de Munnik, Caroline Nava, Charlotte W. Ockeloen, Rosa Pettinato, Hilary Racher, Tuula Rinne, Corrado Romano, Victoria R. Sanders, Rhonda E. Schnur, Eric J. Smeets, Alexander P.A. Stegmann, Asbjørg Stray‐Pedersen, David A. Sweetser, Paulien A. Terhal, Kristian Tveten, Grace E. VanNoy, Petra F. de Vries, Jessica L. Waxler, Marcia Willing, Rolph Pfundt, Joris A. Veltman, R. Frank Kooy, Lisenka E.L.M. Vissers, Bert B.A. de Vries

    Vydáno 2019
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  13. 13
    Impact of integrated translational research on clinical exome sequencing

    Impact of integrated translational research on clinical exome sequencing Autor Eric W. Klee, Margot A. Cousin, Filippo Pinto e Vairo, Joel A. Morales‐Rosado, Erica L. Macke, W. Garrett Jenkinson, Alejandro Ferrer, Laura Schultz‐Rogers, Rory J. Olson, Gavin R. Oliver, Ashley N. Sigafoos, Tanya L. Schwab, Michael T. Zimmermann, Raúl Urrutia, Charu Kaiwar, Aditi Gupta, Patrick R. Blackburn, Nicole J. Boczek, Carri A. Prochnow, Rebecca J. Lowy, Lindsay A. Mulvihill, Tammy M. McAllister, Stacy L. Aoudia, Teresa Kruisselbrink, Lauren Gunderson, Jennifer L. Kemppainen, Laura J. Fisher, Jessica M. Tarnowski, Megan M. Hager, Sarah A. Kroc, Nicole L. Bertsch, Katherine Agre, Jessica L. Jackson, Sarah K. Macklin‐Mantia, Marine I. Murphree, Laura Rust, Jolene M. Summer Bolster, Scott A. Beck, Paldeep S. Atwal, Marissa S. Ellingson, Sarah Barnett, Kristen Rasmussen, Carrie A. Lahner, Zhiyv Niu, Linda Hasadsri, Matthew J. Ferber, Cherisse A. Marcou, Karl J. Clark, Pavel N. Pichurin, David R. Deyle, Eva Morava‐Kozicz, Ralitza H. Gavrilova, Radhika Dhamija, Klaas J. Wierenga, Brendan C. Lanpher, Dusica Babovic‐Vuksanovic, Gianrico Farrugia, Lisa A. Schimmenti, A. Keith Stewart, Konstantinos N. Lazaridis

    Vydáno 2020
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  14. 14
    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

    Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance Autor Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil‐Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, Paldeep S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly Dubbs, David A. Dyment, Juliane Eckhold, Sarah Ernst, José Carlos Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén‐Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul C. M. Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger G. Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krūmiņa, Hane Lee, Kathleen A. Leppig, Sally Ann Lynch, Mark Mallozzi, Linda Mannini, Shane McKee, Sarju Mehta, Ieva Mičule, Shehla Mohammed, Ellen Moran, Geert Mortier, J. Moser, Sarah E. Noon, Naohito Nozaki, Luís Nunes, John Pappas, Lynette S. Penney, Antonio Pérez Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revençu, Elizabeth Roeder, Sulagna C. Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria Mok Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick J. Willems, Kathleen A. Williamson, Louise C. Wilson, Hákon Hákonarson, Fabiola Quintero‐Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen‐Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, D.W. Christianson, Ian D. Krantz, David Fitzpatrick, Matthew A. Deardorff

    Vydáno 2014
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  15. 15
    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders Autor Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill A. Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E.L.M. Vissers, Magnus Nordenskjöld, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gécz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep S. Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celanie K. Christensen, Kerry White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch‐Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, R. Frank Kooy, Marije Meuwissen, Alice Basinger, Mary K. Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond‐Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, Elena Lopez‐Rangel, Paul A. Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie M. Vento, Divya Vats, L. Manace Benman, Shane McKee, Ghayda Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen Simon, Koen L.I. van Gassen, Kara Simpson, Robert F. Stratton, Shakir Syed, Julien Thévenon, Irene Valenzuela, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, John Acampado, J. Andrea, Alpha Amatya, Irina Astrovskaya, Asif Bashar, Elizabeth Brooks

    Vydáno 2021
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