Resultados da busca - Jamie L. Fraser

  • Mostrando 1 - 12 resultados de 12
Refinar Resultados
  1. 1
    Methylmalonic and propionic acidemias: clinical management update

    Methylmalonic and propionic acidemias: clinical management update por Jamie L. Fraser, Charles P. Venditti

    Publicado em 2016
    Obter o texto integral
    Revisão
    Salvar na lista
    Na minha lista:
  2. 2
    Transplantation of hypoxia preconditioned bone marrow mesenchymal stem cells enhances angiogenesis and neurogenesis after cerebral ischemia in rats

    Transplantation of hypoxia preconditioned bone marrow mesenchymal stem cells enhances angiogenesis and neurogenesis after cerebral ischemia in rats por Ling Wei, Jamie L. Fraser, Zhongyang Lu, Xinyang Hu, Shan Ping Yu

    Publicado em 2012
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  3. 3
    Transplantation of hypoxia-preconditioned mesenchymal stem cells improves infarcted heart function via enhanced survival of implanted cells and angiogenesis

    Transplantation of hypoxia-preconditioned mesenchymal stem cells improves infarcted heart function via enhanced survival of implanted cells and angiogenesis por Xinyang Hu, Shan Ping Yu, Jamie L. Fraser, Zhongyang Lu, Molly E. Ogle, Jianan Wang, Ling Wei

    Publicado em 2008
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  4. 4
    Rapid deployment of a telemedicine care model for genetics and metabolism during <scp>COVID</scp>‐19

    Rapid deployment of a telemedicine care model for genetics and metabolism during <scp>COVID</scp>‐19 por Natasha Shur, Shireen M. Atabaki, Monisha S. Kisling, Abir Tabarani, Clarence Williams, Jamie L. Fraser, Debra S. Regier, Marshall Summar

    Publicado em 2020
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  5. 5
    Sex-specific effects of N-acetylcysteine in neonatal rats treated with hypothermia after severe hypoxia-ischemia

    Sex-specific effects of N-acetylcysteine in neonatal rats treated with hypothermia after severe hypoxia-ischemia por Xingju Nie, Danielle W. Lowe, Laura Grace Rollins, Jessica P. Bentzley, Jamie L. Fraser, Reneé H. Martin, Inderjit Singh, Dorothea Jenkins

    Publicado em 2016
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  6. 6
    Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum

    Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum por Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst, Victoria E R Parker, Cathy Blumhorst, Thomas N. Darling, Laura L. Tosi, Susan Huson, Richard W. Whitehousé, Eveliina Jakkula, I. P. Grant, Meena Balasubramanian, Kate Chandler, Jamie L. Fraser, Zoran Gucev, Yanick J. Crow, Leslie Manace Brennan, Robin D. Clark, Elizabeth A. Sellars, Loren Peña, Vidya Krishnamurty, Andrew Y. Shuen, Nancy Braverman, Michael L. Cunningham, V. Reid Sutton, Velibor Tasić, John M. Graham, Joseph S. Geer, Alex Henderson, Robert K. Semple, Leslie G. Biesecker

    Publicado em 2014
    Obter o texto integral Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  7. 7
    Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

    Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies por Laura Adang, Omar Sherbini, Laura J. Ball, Miriam Bloom, Anil Darbari, Hernán Amartino, Donna DiVito, Florian Eichler, Maria L. Escolar, Sarah Helen Evans, Ali Fatemi, Jamie L. Fraser, Leslie Hollowell, Nicole Jaffe, Christopher Joseph, Mary Karpinski, Stephanie Keller, Ryan M. Maddock, Edna E. Mancilla, Bruce McClary, Jana Mertz, Kiley Morgart, Thomas J. Langan, Richard J. Leventer, Sumit Parikh, Amy Pizzino, Erin Prange, Deborah L. Renaud, William B. Rizzo, Jay R. Shapiro, Dean Suhr, Teryn Suhr, Davide Tonduti, Jacque Waggoner, Amy Waldman, Nicole I. Wolf, Ayelet Zerem, Joshua L. Bonkowsky, Geneviève Bernard, Keith Van Haren, Adeline Vanderver

    Publicado em 2017
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  8. 8
    De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism

    De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism por María J. Guillen Sacoto, Iva A. Tchasovnikarova, Erin Torti, Cara Forster, E. Hallie Andrew, Irina Anselm, Kristin Barañano, Lauren C. Briere, Julie S. Cohen, William J. Craigen, Cheryl Cytrynbaum, Nina Ekhilevitch, Matthew J. Elrick, Ali Fatemi, Jamie L. Fraser, Renata C. Gallagher, Andrea Guerin, Devon Haynes, Frances A. High, Cara Inglese, Courtney Kiss, Mary Kay Koenig, Joel B. Krier, Kristin Lindstrom, Michael Marble, Hannah Meddaugh, Ellen Moran, Chantal F. Morel, Weiyi Mu, Eric Muller, Jessica Nance, Marvin R. Natowicz, Adam L. Numis, Bridget Ostrem, John Pappas, Carl E. Stafstrom, Haley Streff, David A. Sweetser, Marta Szybowska, Melissa Walker, Wei Wang, Karin Weiss, Rosanna Weksberg, Patricia G. Wheeler, Grace Yoon, Robert E. Kingston, Jane Juusola

    Publicado em 2020
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  9. 9
    De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

    De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy por Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, Michaela Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wendy K. Chung, Angus Clarke, Patrick Devine, Sandra Donkervoort, Jamie L. Fraser, Jennifer Friedman, Alyssa Gates, Jamal Ghoumid, Emma Hobson, Gabriella Horváth, Jennifer Keller‐Ramey, Boris Keren, Manju A. Kurian, Virgina Lee, Kathleen A. Leppig, Johan Lundgren, Marie McDonald, Heather M. McLaughlin, Amy McTague, Heather C. Mefford, Cyril Mignot, Mohamad A. Mikati, Caroline Nava, F. Lucy Raymond, Julian R. Sampson, Alba Sanchis-Juan, Vandana Shashi, Joseph T.C. Shieh, Marwan Shinawi, Anne Slavotinek, Tommy Stödberg, Nicholas Stong, Jennifer A. Sullivan, Ashley C. Taylor, Tomi L. Toler, Marie-José van den Boogaard, Saskia N. van der Crabben, Koen L.I. van Gassen, Richard H. van Jaarsveld, Jessica Van Ziffle, Alexandrea Wadley, Matias Wagner, Kristen Wigby, Saskia B. Wortmann, Yuri A. Zárate, Rikke S. Møller, Johannes R. Lemke, Konrad Platzer

    Publicado em 2020
    Obter o texto integral Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:
  10. 10
    Beyond the exome: What’s next in diagnostic testing for Mendelian conditions

    Beyond the exome: What’s next in diagnostic testing for Mendelian conditions por Monica H. Wojcik, Chloe M. Reuter, Shruti Marwaha, Medhat Mahmoud, Michael H. Duyzend, Hayk Barseghyan, Bo Yuan, Philip M. Boone, Emily Groopman, Emmanuèle C. Délot, Deepti Jain, Alba Sanchis‐Juan, Lea M. Starita, Michael E. Talkowski, Stephen B. Montgomery, Michael J. Bamshad, Jessica X. Chong, Matthew T. Wheeler, Seth Berger, Anne O’Donnell‐Luria, Fritz J. Sedlazeck, Danny E. Miller, Siwaar Abouhala, Jessica Albert, Miguel Almalvez, Raquel Alvarez, Mutaz Amin, Peter Anderson, Swaroop Aradhya, Euan A. Ashley, Themistocles L. Assimes, Light Auriga, Christina Austin‐Tse, Mike Bamshad, Hayk Barseghyan, Samantha Baxter, Sairam Behera, Shaghayegh Beheshti, Gill Bejerano, Seth Berger, Jon Bernstein, Sabrina Best, Benjamin Blankenmeister, Elizabeth Blue, Eric Boerwinkle, Emily Bonkowski, Devon Bonner, Philip Boone, Miriam Bornhorst, Tugce Bozkurt‐Yozgatli, Harrison Brand, Kati J. Buckingham, Daniel G. Calame, Silvia Casadei, Lisa H. Chadwick, Clarisa Chavez, Ziwei Chen, Iván K. Chinn, Jessica X. Chong, Zeynep Coban‐Akdemir, Andrea J. Cohen, Sarah J. Conner, Matthew P. Conomos, Karen J. Coveler, Ya Allen Cui, Sara Currin, Robert Daber, Zain Dardas, Colleen Davis, Moez Dawood, Ivan De Dios, Celine De Esch, Meghan Delaney, Emmanuèle C. Délot, Stephanie DiTroia, HarshaVardhan Doddapaneni, Haowei Du, Ruizhi Duan, Shannon Dugan‐Perez, Nhat Duong, Michael H. Duyzend, Evan E. Eichler, Sara Emami, Jawid M. Fatih, Jamie L. Fraser, Vincent A. Fusaro, Miranda Galey, Vijay Ganesh, Kiran Garimella, Richard A. Gibbs, Casey A. Gifford, Amy Ginsburg, Pagé C. Goddard, Stephanie M. Gogarten, Nikhita Gogate, William Gordon, John E. Gorzynski, William J. Greenleaf, Christopher M. Grochowski, Emily Groopman

    Publicado em 2023
    Obter o texto integral
    Revisão
    Salvar na lista
    Na minha lista:
  11. 11
    <i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders

    <i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders por Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl, Jenny Lord, Vijay S Ganesh, Jialan Ma, Alexandra C Martin-Geary, Gabrielle Lemire, Elston N. D’Souza, Shan Dong, Jamie M. Ellingford, David R. Adams, Kirsten Allan, Madhura Bakshi, Erin E. Baldwin, Seth Berger, Jonathan A. Bernstein, Natasha J. Brown, Lindsay C. Burrage, Kimberly A. Chapman, Alison G. Compton, Chloe A Cunningham, Precilla D’Souza, Emmanuèle C. Délot, Kerith‐Rae Dias, Ellen Roy Elias, Carey‐Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L. Fraser, Lyndon Gallacher, Casie A. Genetti, Christina Grant, Tobias B. Haack, Alma Kuechler, Seema R. Lalani, Elsa Leitão, Anna Le Fevre, Richard J. Leventer, Jan Liebelt, Paul J. Lockhart, Alan Ma, Ellen F. Macnamara, T. Maurer, Rodrigo Mendez, Stephen B. Montgomery, Marie‐Cécile Nassogne, Serena Neumann, Melanie O’Leary, Elizabeth E. Palmer, John A. Phillips, Georgia Pitsava, Ryan Pysar, Heidi L. Rehm, Chloe M. Reuter, Nicole Revençu, Angelika Rieß, Rocío Rius, Lance H. Rodan, Tony Roscioli, Jill A. Rosenfeld, Rani Sachdev, Cas Simons, Sanjay M. Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Tiong Yang Tan, Natalie B. Tan, Suzanna E.L. Temple, David R. Thorburn, Cynthia J. Tifft, Eloise Uebergang, Grace E. VanNoy, Éric Vilain, David Viskochil, Laura Wedd, Matthew T. Wheeler, Susan M. White, Monica H. Wojcik, Lynne A. Wolfe, Zoe Wolfenson, Changrui Xiao, David Zocche, John L.R. Rubenstein, Eirene Markenscoff-Papadimitriou, Sebastian M. Fica, Diana Baralle, Christel Depienne, Daniel G. MacArthur, Joanna M. M. Howson, Stephan Sanders, Anne O’Donnell‐Luria, Nicola Whiffin

    Publicado em 2024
    Obter o texto integral Obter o texto integral
    Pré-impressão
    Salvar na lista
    Na minha lista:
  12. 12
    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

    De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome por Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L. Stenton, Susan Walker, Jenny Lord, Gabrielle Lemire, Alexandra C Martin-Geary, Vijay S Ganesh, Jialan Ma, Jamie M. Ellingford, Erwan Delage, Elston N. D’Souza, Shan Dong, David R. Adams, Kirsten Allan, Madhura Bakshi, Erin E. Baldwin, Seth Berger, Jonathan A. Bernstein, Ishita Bhatnagar, Ed Blair, Natasha J. Brown, Lindsay C. Burrage, Kimberly A. Chapman, David Coman, Alison G. Compton, Chloe A Cunningham, Precilla D’Souza, Petr Danecek, Emmanuèle C. Délot, Kerith‐Rae Dias, Ellen Roy Elias, Frances Elmslie, Care-Anne Evans, Lisa Ewans, Kimberly Ezell, Jamie L. Fraser, Lyndon Gallacher, Casie A. Genetti, Anne Goriely, Christina Grant, Tobias B. Haack, Jenny Higgs, Anjali Gupta Hinch, Matthew E. Hurles, Alma Kuechler, Katherine Lachlan, Seema R. Lalani, François Lecoquierre, Elsa Leitão, Anna Le Fevre, Richard J. Leventer, Jan Liebelt, Sarah Lindsay, Paul J. Lockhart, Alan Ma, Ellen F. Macnamara, Sahar Mansour, T. Maurer, Rodrigo Mendez, Kay Metcalfe, Stephen B. Montgomery, Mariya Moosajee, Marie‐Cécile Nassogne, Serena Neumann, Michael O’Donoghue, Melanie O’Leary, Elizabeth E. Palmer, Nikhil Pattani, John Phillips, Georgia Pitsava, Ryan Pysar, Heidi L. Rehm, Chloe M. Reuter, Nicole Revençu, Angelika Rieß, Rocío Rius, Lance H. Rodan, Tony Roscioli, Jill A. Rosenfeld, Rani Sachdev, Charles Shaw‐Smith, Cas Simons, Sanjay M. Sisodiya, Penny Snell, Laura St Clair, Zornitza Stark, Helen Stewart, Tiong Yang Tan, Natalie B. Tan, Suzanna E.L. Temple, David R. Thorburn, Cynthia J. Tifft, Eloise Uebergang, Grace E. VanNoy, Pradeep Vasudevan, Éric Vilain, David Viskochil

    Publicado em 2024
    Obter o texto integral
    Artigo
    Salvar na lista
    Na minha lista:

Ferramentas de busca: