Rezultaty - Amy Kritzer

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  1. 1
    Smith-Lemli-Opitz Syndrome: Clinical, Biochemical, and Genetic Insights With Emerging Treatment Opportunities

    Smith-Lemli-Opitz Syndrome: Clinical, Biochemical, and Genetic Insights With Emerging Treatment Opportunities od Amy Kritzer, Rana Dutta, Tiziano Pramparo, Jolan Terner-Rosenthal, Pamela Vig, Robert D. Steiner

    Wydane 2025
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  2. 2
    Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes

    Rare diseases, common barriers: disparities in pediatric clinical genetics outcomes od Monica H. Wojcik, Mairead Bresnahan, Maya C. del Rosario, Mayra Martinez Ojeda, Amy Kritzer, Yarden S. Fraiman

    Wydane 2022
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  3. 3
    Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD odyssey program

    Major clinical events and healthcare resource use among patients with long-chain fatty acid oxidation disorders in the United States: Results from LC-FAOD odyssey program od Erru Yang, Eliza Kruger, David Yin, Kieran Mace, Meghan Tierney, Noelle Liao, Emily Cibelli, Dan Drozd, Nathan T. Ross, Kathleen L. Deering, Peter Herout, Qing Harshaw, Alicia C. Shillington, Nina A. Thomas, Deborah Marsden, Amy Kritzer, Jerry Vockley

    Wydane 2024
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  4. 4
    Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders

    Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders od Anna R. Duncan, Maya M. Polovitskaya, Héctor Gaitán‐Peñas, Sara Bertelli, Grace E. VanNoy, P. Ellen Grant, Anne O’Donnell‐Luria, Zaheer M. Valivullah, Alysia Kern Lovgren, Elaina M. England, Emanuele Agolini, Jill A. Madden, Klaus Schmitz‐Abe, Amy Kritzer, Pamela Hawley, Antonio Novelli, Paolo Alfieri, Giovanna Stefania Colafati, Dagmar Wieczorek, Konrad Platzer, Johannes Luppe, Margarete Koch‐Hogrebe, Rami Abou Jamra, Juanita Neira‐Fresneda, Anna Lehman, Cornelius F. Boerkoel, Kimberly Seath, Lorne A. Clarke, Yvette van Ierland, Emanuela Argilli, Elliott H. Sherr, Andrea Maiorana, Thilo Diel, Maja Hempel, Tatjana Bierhals, Raúl Estévez, Thomas J. Jentsch, Michael Pusch, Pankaj B. Agrawal

    Wydane 2021
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
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  5. 5
    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome

    Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome od Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J. Edwards, Simone Afriyie, Julia Bay, Kathryn M. Harper, Alvaro A. Beltran, Lorena J. Munoz, Liset Falcon Rodriguez, Michael C. Stankewich, Richard Person, Yue Si, Elizabeth A. Normand, Amy Blevins, Alison S. May, Louise Bier, Vimla S. Aggarwal, Grazia M.S. Mancini, Marjon A. van Slegtenhorst, Kirsten Cremer, Jessica Becker, Hartmut Engels, Stefan Aretz, Jennifer MacKenzie, Eva H. Brilstra, Koen L.I. van Gassen, Richard H. van Jaarsveld, Renske Oegema, Gretchen Parsons, Paul R. Mark, Ingo Helbig, Sarah McKeown, Robert F. Stratton, Benjamin Cogné, Bertrand Isidor, Pilar Cacheiro, Damian Smedley, Helen V. Firth, Tatjana Bierhals, Katja Kloth, Deike Weiss, Cecilia Fairley, Joseph T.C. Shieh, Amy Kritzer, Parul Jayakar, Evangeline C. Kurtz‐Nelson, Raphael Bernier, Tianyun Wang, Evan E. Eichler, Ingrid M.B.H. van de Laar, Allyn McConkie‐Rosell, Marie McDonald, Jennifer L. Kemppainen, Brendan C. Lanpher, Laura Schultz‐Rogers, Lauren Gunderson, Pavel N. Pichurin, Grace Yoon, Michael Zech, Robert Jech, Juliane Winkelmann, Adriana S. Beltrán, Michael T. Zimmermann, Brenda Temple, Sheryl S. Moy, Eric W. Klee, Queenie K-G Tan, Damaris N. Lorenzo

    Wydane 2021
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