檢索結果 - Linda Hasadsri
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Clinical characterization of primary hyperoxaluria type 3 in comparison with types 1 and 2 由 Prince Singh, Jason K. Viehman, Ramila A. Mehta, Andrea G. Cogal, Linda Hasadsri, Devin Oglesbee, Julie B. Olson, Barbara M. Seide, David J. Sas, Peter C. Harris, John C. Lieske, Dawn S. Milliner
出版 2021Artigo -
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Amyloid Typing by Mass Spectrometry in Clinical Practice: a Comprehensive Review of 16,175 Samples 由 Surendra Dasari, Jason D. Theis, Julie A. Vrana, Karen L. Rech, Linda N. Dao, Matthew T. Howard, Angela Dispenzieri, Morie A. Gertz, Linda Hasadsri, W. Edward Highsmith, Paul J. Kurtin, Ellen D. McPhail
出版 2020Revisão -
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Novel Type of Renal Amyloidosis Derived from Apolipoprotein-CII 由 Samih H. Nasr, Surendra Dasari, Linda Hasadsri, Jason D. Theis, Julie A. Vrana, Morie A. Gertz, Prasuna Muppa, Michael T. Zimmermann, Karen L. Grogg, Angela Dispenzieri, Sanjeev Sethi, W. Edward Highsmith, Giampaolo Merlini, Nelson Leung, Paul J. Kurtin
出版 2016Artigo -
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Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss 由 Andrea M. Oza, Marina T. DiStefano, Sarah E. Hemphill, Brandon J. Cushman, Andrew R. Grant, Rebecca K. Siegert, Jun Shen, Alex Chapin, Nicole J. Boczek, Lisa A. Schimmenti, Jaclyn B. Murry, Linda Hasadsri, Kiyomitsu Nara, Margaret A. Kenna, Kevin T. Booth, Héla Azaiez, Andrew J. Griffith, Karen B. Avraham, Hannie Kremer, Heidi L. Rehm, Sami S. Amr, Ahmad Abou Tayoun
出版 2018Artigo -
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Mutations in the V‐ATPase Assembly Factor VMA21 Cause a Congenital Disorder of Glycosylation With Autophagic Liver Disease 由 M Serio, Laurie A. Graham, Angel Ashikov, Lars Elmann Larsen, Kimiyo Raymond, Sharita Timal, Gwenn Le Meur, Margret Ryan, E. Czarnowska, Jos C. Jansen, Miao He, Can Fıçıcıoğlu, Pavel N. Pichurin, Linda Hasadsri, Berge A. Minassian, Alessandra Rugierri, Hannu Kalimo, W. Alfredo Ríos‐Ocampo, Christian Gilissen, Richard J. Rodenburg, Johan W. Jonker, Adriaan G. Holleboom, Éva Morava, Joris A. Veltman, Piotr Socha, Tom H. Stevens, Matias Simons, Dirk J. Lefeber
出版 2020Artigo -
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RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities 由 Margot A. Cousin, Erin Conboy, Jian‐She Wang, Dominic Lenz, Tanya L. Schwab, Monique Williams, Roshini S. Abraham, Sarah Barnett, Mounif El‐Youssef, Rondell P. Graham, Luz Helena Gutierrez Sanchez, Linda Hasadsri, Georg F. Hoffmann, Nathan C. Hull, Robert Kopajtich, Réka Kovács-Nagy, Jiaqi Li, Daniela Marx-Berger, Valérie A. McLin, Mark A. McNiven, Taofic Mounajjed, Holger Prokisch, Daisy Rymen, Ryan J. Schulze, Christian Staufner, Ye Yang, Karl J. Clark, Brendan C. Lanpher, Eric W. Klee
出版 2019Artigo -
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Integrating glycomics and genomics uncovers SLC10A7 as essential factor for bone mineralization by regulating post-Golgi protein transport and glycosylation 由 Angel Ashikov, Nurulamin Abu Bakar, Xiao‐Yan Wen, Marco Niemeijer, Glentino Rodrigues Pinto Osorio, Koroboshka Brand‐Arzamendi, Linda Hasadsri, Hana Hansíková, Kimiyo Raymond, Dorothée Vicogne, Nina Ondrušková, Marleen Simon, Rolph Pfundt, Sharita Timal, Roel Beumers, Christophe Biot, Roel Smeets, Marjan Kersten, Karin Huijben, Peter Linders, Geert van den Bogaart, Sacha A. F. T. van Hijum, Richard J. Rodenburg, Lambertus P. van den Heuvel, Francjan van Spronsen, Tomáš Honzík, François Foulquier, Monique van Scherpenzeel, Dirk J. Lefeber, Mirjam M. C. Wamelink, Brunner Han, Mundy Helen, Michelakakis Helen, van Hasselt Peter, van de Kamp Jiddeke, Diego Martinelli, Lars Mørkrid, Brocke Holmefjord Katja, Hertecant Jozef, Majid Alfadhel, Carpenter Kevin, te Water Naude Johann
出版 2018Artigo -
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A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome 由 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
出版 2020Artigo
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