खोज परिणाम - Eric T. Rush

  • प्रदर्शित 1 - 14 परिणाम 14
परिणाम को परिष्कृत करें
  1. 1
    Diagnosis and Treatment of Hypophosphatasia

    Diagnosis and Treatment of Hypophosphatasia द्वारा Lothar Seefried, Franca Genest, Christine Hofmann, Maria Luisa Brandi, Eric T. Rush

    प्रकाशित 2025
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  2. 2
    Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta

    Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta द्वारा Winnie Liu, Brendan Lee, Sandesh C.S. Nagamani, Lindsey Nicol, Frank Rauch, Eric T. Rush, V. Reid Sutton, Eric Orwoll

    प्रकाशित 2023
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  3. 3
    Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines

    Peroxisome biogenesis disorders in the Zellweger spectrum: An overview of current diagnosis, clinical manifestations, and treatment guidelines द्वारा Nancy Braverman, Gerald V. Raymond, William B. Rizzo, Ann B. Moser, Mark Wilkinson, Edwin M. Stone, Steven J. Steinberg, Michael F. Wangler, Eric T. Rush, Joseph G. Hacia, Mousumi Bose

    प्रकाशित 2015
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  4. 4
    Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa

    Monitoring guidance for patients with hypophosphatasia treated with asfotase alfa द्वारा Priya S. Kishnani, Eric T. Rush, Paul Arundel, Nick Bishop, Kathryn Dahir, William D. Fraser, Paul Harmatz, Agnès Linglart, Craig Munns, Mark E. Nuñes, Howard M. Saal, Lothar Seefried, Keiichi Ozono

    प्रकाशित 2017
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  5. 5
    Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group

    Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group द्वारा Calvin C. Wu, Michael J. Econs, Linda A. DiMeglio, Karl Insogna, Michael A. Levine, Paul J. Orchard, Weston P. Miller, Anna Petryk, Eric T. Rush, Dolores Shoback, Leanne M. Ward, Lynda E. Polgreen

    प्रकाशित 2017
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  6. 6
    The Global ALPL gene variant classification project: Dedicated to deciphering variants

    The Global ALPL gene variant classification project: Dedicated to deciphering variants द्वारा Mariam R. Farman, Catherine Rehder, Theodora Malli, Cheryl R. Greenberg, Kathryn Dahir, Gabriel Ángel Martos‐Moreno, Agnès Linglart, Keiichi Ozono, Lothar Seefried, Guillermo del Angel, Gerald Webersinke, Francesca Barbazza, Lisa K. John, Sewmi M A Delana Mudiyanselage, Florian Högler, Erica B. Nading, Erin Huggins, Eric T. Rush, Ahmed El‐Gazzar, Priya S. Kishnani, Wolfgang Högler

    प्रकाशित 2023
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  7. 7
    A multicenter study to evaluate pulmonary function in osteogenesis imperfecta

    A multicenter study to evaluate pulmonary function in osteogenesis imperfecta द्वारा Allison Tam, Shan Chen, Evan Schauer, Ingo Grafe, Venkata Bandi, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, David Cuthbertson, Jeffrey P. Krischer, Mary A. Mullins, Peter H. Byers, Robert A. Sandhaus, Michaela Durigova, Francis H. Glorieux, Frank Rauch, V. Reid Sutton, Brendan Lee, Eric T. Rush, Sandesh C.S. Nagamani

    प्रकाशित 2018
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  8. 8
    Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study

    Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study द्वारा Mahim Jain, Allison Tam, Jay R. Shapiro, Robert D. Steiner, Peter A. Smith, Michael B. Bober, Tracy Hart, David Cuthbertson, J. Krischer, Mary A. Mullins, Sunil Bellur, Peter H. Byers, Melanie Pepin, Michaela Durigova, Francis H. Glorieux, Frank Rauch, Brendan Lee, V. Reid Sutton, David R. Eyre, Deborah Krakow, Laura L. Tosi, Cathleen Raggio, Eric Orwoll, Eric T. Rush, Sandesh C.S. Nagamani

    प्रकाशित 2018
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  9. 9
    Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults

    Hypophosphatasia diagnosis: current state of the art and proposed diagnostic criteria for children and adults द्वारा Aliya Khan, Maria Luisa Brandi, Eric T. Rush, Dalal S. Ali, Hatim Al-Alwani, Khulod Almonaei, Farah Alsarraf, Séverine Bacrot, Kathryn Dahir, Karel Dandurand, Chad Deal, Serge Ferrari, Francesca Giusti, Gordon Guyatt, Erin Hatcher, Steven Ing, M K Javaid, Sarah Khan, Roland Kocijan, Agnès Linglart, Iman M’Hiri, Francesca Marini, Mark E. Nuñes, Cheryl R. Greenberg, C. Roux, Lothar Seefried, Jill H. Simmons, Susan Starling, Leanne M. Ward, Liang Yao, Romina Brignardello‐Petersen, E. Michael Lewiecki

    प्रकाशित 2023
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  10. 10
    Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group

    Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group द्वारा Eric T. Rush, Maria Luisa Brandi, Aliya Khan, Dalal S. Ali, Hatim Al-Alwani, Khulod Almonaei, Farah Alsarraf, Séverine Bacrot, Kathryn Dahir, Karel Dandurand, Chad Deal, Serge Ferrari, Francesca Giusti, Gordon Guyatt, Erin Hatcher, Steven Ing, M K Javaid, Sarah Khan, Roland Kocijan, E. Michael Lewiecki, Agnès Linglart, Iman M’Hiri, Francesca Marini, Mark E. Nuñes, Cheryl R. Greenberg, C. Roux, Lothar Seefried, Susan Starling, Leanne M. Ward, Liang Yao, Romina Brignardello‐Petersen, Jill H. Simmons

    प्रकाशित 2023
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  11. 11
    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders

    Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders द्वारा Björn Fischer‐Zirnsak, Lara Segebrecht, Max Schubach, Perrine Charles, Emily Alderman, Kathleen Brown, Maxime Cadieux‐Dion, Tracy Cartwright, Yanmin Chen, Carrie Costin, Sarah Fehr, Keely Fitzgerald, Emily Fleming, Kimberly Foss, Thoa K. Ha, Gabriele Hildebrand, Denise Horn, Shuxi Liu, Elysa J. Marco, Marie McDonald, Kirsty McWalter, Simone Race, Eric T. Rush, Yue Si, Carol Saunders, Anne Slavotinek, Sylvia Stöckler‐Ipsiroglu, Aida Telegrafi, Isabelle Thiffault, Erin Torti, Anne Chun‐Hui Tsai, Xin Wang, Muhammad Sohail Zafar, Boris Keren, Uwe Kornak, Cornelius F. Boerkoel, Ghayda Mirzaa, Nadja Ehmke

    प्रकाशित 2019
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  12. 12
    X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline

    X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline द्वारा Dalal S. Ali, Thomas O. Carpenter, Erik A. Imel, Leanne M. Ward, Natasha M. Appelman‐Dijkstra, Catherine Chaussain, Suzanne M. Jan de Beur, Pablo Florenzano, Hajar Abu Alrob, Rana Aldabagh, R. Todd Alexander, Farah Alsarraf, Signe Sparre Beck‐Nielsen, Martin Biosse Duplan, Rachel Crowley, Karel Dandurand, Guido Filler, Lisa Friedlander, Seiji Fukumoto, Claudia Gagnon, Paul Goodyer, Corinna Grasemann, Chelsey Grimbly, Salma Hussein, M K Javaid, Sarah Khan, Aneal Khan, Anna Lehman, Willem F. Lems, E. Michael Lewiecki, Ciara McDonnell, Reza Mirza, Emmett Morgante, Archibald Morrison, Anthony A. Portale, Can Rao, Yumie Rhee, Eric T. Rush, Heide Siggelkow, Sotirios Tetradis, Laura L. Tosi, Gordon Guyatt, Maria Luisa Brandi, Aliya Khan

    प्रकाशित 2025
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  13. 13
    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 द्वारा 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

    प्रकाशित 2020
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  14. 14
    Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes

    Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes द्वारा 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

    प्रकाशित 2022
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