检索结果 - Peter G. Kranz
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Myelography Using Energy-Integrating Detector CT Versus Photon-Counting Detector CT for Detection of CSF-Venous Fistulas in Patients With Spontaneous Intracranial Hypotension 由 Fides R. Schwartz, Peter G. Kranz, Michael D. Malinzak, David N. Cox, Francesco Ria, Cindy McCabe, Brian Harrawood, Linda Gray Leithe, Ehsan Samei, Timothy J. Amrhein
出版 2024Artigo -
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Consensus Practice Guidelines on Postdural Puncture Headache From a Multisociety, International Working Group 由 Vishal Uppal, Robin Russell, Rakesh V. Sondekoppam, Jessica Ansari, Zafeer Baber, Yi‐An Chen, Kathryn DelPizzo, Dan Sebastian Dîrzu, Hari Kalagara, Narayan R. Kissoon, Peter G. Kranz, Lisa Leffert, Grace Lim, Clara Lobo, D. N. Lucas, Εleni Μoka, Stephen E. Rodriguez, Herman Sehmbi, Manuel C. Vallejo, Thomas Volk, Samer Narouze
出版 2023Artigo -
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Evidence-based clinical practice guidelines on postdural puncture headache: a consensus report from a multisociety international working group 由 Vishal Uppal, Robin Russell, Rakesh V. Sondekoppam, Jessica Ansari, Zafeer Baber, Yian Chen, Kathryn DelPizzo, Dan Sebastian Dîrzu, Hari Kalagara, Narayan R. Kissoon, Peter G. Kranz, Lisa Leffert, Grace Lim, Clara Lobo, D. N. Lucas, Εleni Μoka, Stephen E. Rodriguez, Herman Sehmbi, Manuel C. Vallejo, Thomas Volk, Samer Narouze
出版 2023Artigo -
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Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder 由 Ning Liu, Kelly Schoch, Xi Luo, Loren D.M. Peña, Venkata Hemanjani Bhavana, Mary K. Kukolich, Sarah Stringer, Zöe Powis, Kelly Radtke, Cameron Mroske, Kristen Deak, Marie McDonald, Allyn McConkie‐Rosell, M. Louise Markert, Peter G. Kranz, Nicholas Stong, Anna C. Need, David Bick, Michelle D. Amaral, Elizabeth A. Worthey, Shawn Levy, Michael F. Wangler, Hugo J. Bellen, Vandana Shashi, Shinya Yamamoto
出版 2018Artigo -
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Multidisciplinary consensus guideline for the diagnosis and management of spontaneous intracranial hypotension 由 Sanjay Cheema, JANE ANDERSON, Heather Angus‐Leppan, Paul A. Armstrong, David Butteriss, Lalani Carlton Jones, David Choi, Amar Ajay Chotai, Linda D’Antona, Indran Davagnanam, Brendan Davies, Paul Dorman, Callum Duncan, Simon Ellis, Valeria Iodice, Clare Joy, Susie Lagrata, Sarah Mead, Danny Morland, Justin Nissen, Jenny Pople, Nancy Redfern, Parag Sayal, Daniel Scoffings, Russell Secker, Ahmed K. Toma, Tamsin Trevarthen, James Walkden, Jürgen Beck, Peter G. Kranz, Wouter I. Schievink, Shuu‐Jiun Wang, Manjit Matharu
出版 2023Revisão -
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Loss of tubulin deglutamylase <scp>CCP</scp> 1 causes infantile‐onset neurodegeneration 由 Vandana Shashi, Maria M. Magiera, Dennis Klein, Maha S. Zaki, Kelly Schoch, Sabine Rudnik–Schöneborn, Andrew Norman, Osório Lopes Abath Neto, Marina Dusl, Xidi Yuan, Luca Bartesaghi, Patrizia De Marco, Ahmed Alfares, Ronit Marom, Stefan T. Arold, Francisco J. Guzmán‐Vega, Loren Peña, Edward C. Smith, Maja Steinlin, Mohamed OE Babiker, Payam Mohassel, A. Reghan Foley, Sandra Donkervoort, Rupleen Kaur, Partha S. Ghosh, Valentina Stanley, Damir Musaev, Caroline Nava, Cyril Mignot, Boris Keren, Marcello Scala, Elisa Tassano, Paolo Picco, Paola Doneda, Chiara Fiorillo, Mahmoud Y. Issa, Ali H. Alassiri, Ahmed Alahmad, Amanda Gerard, Pengfei Liu, Yaping Yang, Birgit Ertl‐Wagner, Peter G. Kranz, Ingrid M. Wentzensen, Rolf Stucka, Nicholas Stong, Andrew S. Allen, David B. Goldstein, Benedikt Schoser, Kai M. Rösler, Majid Alfadhel, Valeria Capra, Roman Chrast, Tim M. Strom, Erik‐Jan Kamsteeg, Carsten G. Bönnemann, Joseph G. Gleeson, Rudolf Martini, Carsten Janke, Jan Senderek
出版 2018Artigo -
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De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype 由 Vandana Shashi, Loren D.M. Peña, Katherine Kim, Barbara K. Burton, Maja Hempel, Kelly Schoch, Magdalena Walkiewicz, Heather M. McLaughlin, Megan Cho, Nicholas Stong, Scott E. Hickey, Christine Shuss, Michael Freemark, Jane S. Bellet, Martha Ann Keels, Melanie J. Bonner, Maysantoine A. El-Dairi, Megan W. Butler, Peter G. Kranz, Constance T. R. M. Stumpel, Sylvia Klinkenberg, Karin Oberndorff, Malik Alawi, René Santer, Slavé Petrovski, Outi Kuismin, Satu Korpi-Heikkilä, Olli Pietiläinen, Aarno Palotie, Mitja Kurki, Alexander Hoischen, Anna C. Need, David B. Goldstein, Fanny Kortüm, A. Bacino, Brendan Lee, Ashok Balasubramanyam, Lindsay C. Burrage, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Mahim Jain, Seema R. Lalani, Richard A. Lewis, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Daryl A. Scott, Neil A. Hanchard, Tran A. Alyssa, Alejandro E. Mercedes, Azamian S. Mashid, Hugo J. Bellen, Shinya Yamamoto, Michael F. Wangler, Monte Westerfield, John H. Postlethwait, Christine M. Eng, Yaping Yang, Donna M. Muzny, Patricia A. Ward, Rachel Ramoni, Alexa T. McCray, Issac S. Kohane, Ingrid A. Holm, Matthew Might, Paul Mazur, Kimberly Splinter, Cecilia Esteves, Vandana Shashi, Yong‐hui Jiang, Loren D.M. Peña, Allyn McConkie‐Rosell, Kelly Schoch, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, David B. Goldstein, Nicholas Stong, Alan H. Beggs, Joseph Loscalzo, Calum A. MacRae, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Richard L. Maas, Joel B. Krier, Lance H. Rodan, Chris A. Walsh, Cynthia M. Cooper, J. Carl Pallais, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Sharyn A. Lincoln, Lauren C. Briere
出版 2016Artigo -
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A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay 由 Kelly Schoch, Linyan Meng, Szabolcs Szelinger, David Bearden, Asbjørg Stray‐Pedersen, Øyvind L. Busk, Nicholas Stong, Eriskay Liston, Ronald D. Cohn, Fernando Scaglia, Jill A. Rosenfeld, Jennifer Tarpinian, Cara Skraban, Matthew A. Deardorff, Jeremy Friedman, Zeynep Coban‐Akdemir, Sophie Nicole, Mohamad A. Mikati, Peter G. Kranz, Joan Jasien, Allyn McConkie‐Rosell, Marie McDonald, Stephanie Burns Wechsler, Michael Freemark, Sujay Kansagra, Sharon F. Freedman, Deeksha Bali, Francisca Millan, Sherri J. Bale, Stanley F. Nelson, Hane Lee, Naghmeh Dorrani, David B. Goldstein, Rui Xiao, Yaping Yang, Jennifer E. Posey, Julian A. Martínez‐Agosto, James R. Lupski, Michael F. Wangler, Vandana Shashi, Stanley F. Nelson, Wayne W. Grody, Hane Lee, Samuel P. Strom, Éric Vilain, Joshua L. Deignan, Fabiola Quintero‐Rivera, Sibel Kantarci, Naghmeh Dorrani, Sureni V. Mullegama, Sung‐Hae Kang, Szabolcs Szelinger, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Lindsay C. Burrage, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Azamian S. Mashid, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Daryl A. Scott, Alyssa A. Tran, Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Yaping Yang, Andrea Gropman, David B. Goldstein, Nicholas Stong, Yong‐hui Jiang, Allyn McConkie‐Rosell, Loren D.M. Peña, Kelly Schoch, Vandana Shashi, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln
出版 2017Artigo -
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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases 由 Loren D.M. Peña, Yong‐Hui Jiang, Kelly Schoch, Rebecca C. Spillmann, Sophie Nicole, Nicholas Stong, Sarah R. Horn, Jennifer A. Sullivan, Allyn McConkie‐Rosell, Sujay Kansagra, Edward C. Smith, Mays El-Dairi, Jane S. Bellet, Martha Ann Keels, Joan Jasien, Peter G. Kranz, Richard J. Noel, Shashi Nagaraj, Robert K. Lark, Daniel S. Wechsler, Daniela del Gaudio, Marco L. Leung, Laura G. Hendon, Collette C. Parker, Kelly L. Jones, David B. Goldstein, Vandana Shashi, Mercedes E. Alejandro, Carlos A. Bacino, Ashok Balasubramanyam, Bret L. Bostwick, Lindsay C. Burrage, Shan Chen, Gary Clark, William J. Craigen, Shweta U. Dhar, Lisa Emrick, Brett H. Graham, Neil A. Hanchard, Mahim Jain, Seema R. Lalani, Brendan Lee, Richard A. Lewis, Mahshid S. Azamian, Paolo Moretti, Sarah K. Nicholas, Jordan S. Orange, Jennifer E. Posey, Lorraine Potocki, Jill A. Rosenfeld, Susan L. Samson, Daryl A. Scott, Alyssa A. Tran, Tiphanie P. Vogel, Jing Zhang, Hugo J. Bellen, Michael F. Wangler, Shinya Yamamoto, Christine M. Eng, Donna M. Muzny, Patricia A. Ward, Yaping Yang, David B. Goldstein, Nicholas Stong, Yong‐hui Jiang, Allyn McConkie‐Rosell, Loren D.M. Peña, Kelly Schoch, Vandana Shashi, Rebecca C. Spillmann, Jennifer A. Sullivan, Sophie Nicole, Alan H. Beggs, Lauren C. Briere, Cynthia M. Cooper, Laurel A. Donnell‐Fink, Elizabeth L. Krieg, Joel B. Krier, Sharyn A. Lincoln, Joseph Loscalzo, Richard L. Maas, Calum A. MacRae, J. Carl Pallais, Lance H. Rodan, Edwin K. Silverman, Joan M. Stoler, David A. Sweetser, Chris A. Walsh, Cecilia Esteves, Ingrid A. Holm, Isaac S. Kohane, Paul Mazur, Alexa T. McCray, Matthew Might, Rachel Ramoni, Kimberly Splinter, David Bick, Camille L. Birch, Braden Boone, Donna M. Brown
出版 2017Artigo
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