Suchergebnisse - 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 von Taraka Donti, Patrick R. Blackburn, Paldeep S. Atwal

    Veröffentlicht 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 von Sarah Macklin, Nisha Durand, Paldeep S. Atwal, Stephanie L. Hines

    Veröffentlicht 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 von Damian N. Di Florio, Jon Sin, Michael J. Coronado, Paldeep S. Atwal, DeLisa Fairweather

    Veröffentlicht 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 von Angita Jain, Nadine Norton, Katelyn A. Bruno, Leslie T. Cooper, Paldeep S. Atwal, DeLisa Fairweather

    Veröffentlicht 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 von Matt Coban, Patrick R. Blackburn, Murray L. Whitelaw, Mieke M. van Haelst, Paldeep S. Atwal, Thomas R. Caulfield

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

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

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

    Clinical whole-exome sequencing: are we there yet? von 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

    Veröffentlicht 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 von 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

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

    Biparental Inheritance of Mitochondrial DNA in Humans von 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

    Veröffentlicht 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 von 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

    Veröffentlicht 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 von 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

    Veröffentlicht 2018
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  12. 12
    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 von 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

    Veröffentlicht 2014
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  13. 13
    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders von 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

    Veröffentlicht 2021
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