Výsledky vyhledávání - David Rodriguez‐Buritica

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  1. 1
    Two Cases of Fatal Hyperammonemia Syndrome due to Mycoplasma hominis and Ureaplasma urealyticum in Immunocompromised Patients Outside Lung Transplant Recipients

    Two Cases of Fatal Hyperammonemia Syndrome due to Mycoplasma hominis and Ureaplasma urealyticum in Immunocompromised Patients Outside Lung Transplant Recipients Autor Cima Nowbakht, Angelina Edwards, David Rodriguez‐Buritica, Andrea M. Luce, Pratik Doshi, Aleksandra De Golovine, John S. Bynon, Masayuki Nigo

    Vydáno 2019
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  2. 2
    Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States

    Achondroplasia Natural History Study (CLARITY): a multicenter retrospective cohort study of achondroplasia in the United States Autor Julie Hoover‐Fong, Adekemi Yewande Alade, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Chengxin Liu, John McGready, Peggy Modaff, Richard M. Pauli, David Rodriguez‐Buritica, Kerry Schulze, Maria E. Serna, Cory J. Smid, Michael B. Bober

    Vydáno 2021
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  3. 3
    Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs

    Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs Autor Terry G. J. Derks, David Rodriguez‐Buritica, Ayesha Ahmad, Foekje de Boer, María L. Couce, Sarah C. Grünert, Philippe Labrune, Nerea López Maldonado, Carolina Fischinger Moura de Souza, Rebecca Riba‐Wolman, Alessandro Rossi, Heather Saavedra, Rupal Naik Gupta, Vassili Valayannopoulos, John J. Mitchell

    Vydáno 2021
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  4. 4
    Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort study of achondroplasia in the US

    Growth in achondroplasia including stature, weight, weight-for-height and head circumference from CLARITY: achondroplasia natural history study—a multi-center retrospective cohort... Autor Julie Hoover‐Fong, Kerry Schulze, Adekemi Yewande Alade, Michael B. Bober, Ethan Gough, S. Shahrukh Hashmi, Jacqueline T. Hecht, Janet M. Legare, Mary Ellen Little, Peggy Modaff, Richard M. Pauli, David Rodriguez‐Buritica, Maria E. Serna, Cory J. Smid, Chengxin Liu, John McGready

    Vydáno 2021
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  5. 5
    Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children

    Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children Autor Anu Bashamboo, Caroline Eozénou, Anne Jørgensen, Joëlle Bignon-Topalovic, Jean‐Pierre Siffroi, Capucine Hyon, Attila Tar, Péter Nagy, J. Sólyom, Zita Halász, Annnabel Paye-Jaouen, Sophie Lambert, David Rodriguez‐Buritica, Rita Bertalan, Lætitia Martinerie, Ewa Rajpert‐De Meyts, John C. Achermann, Ken McElreavey

    Vydáno 2018
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  6. 6
    Safety and Efficacy of <scp>DTX401</scp>, an <scp>AAV8</scp>‐Mediated Liver‐Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (<scp>GSDIa</scp>)

    Safety and Efficacy of <scp>DTX401</scp>, an <scp>AAV8</scp>‐Mediated Liver‐Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (<scp>GSDIa</scp>) Autor David A. Weinstein, Terry G. J. Derks, David Rodriguez‐Buritica, Ayesha Ahmad, María L. Couce, John J. Mitchell, Rebecca Riba‐Wolman, M Mount, Julieta Bonvin Sallago, Katalin M. Ross, Melanie M. van der Klauw, Foekje de Boer, Caroline Schaaf, Heather Saavedra, Miguel Ángel Martínez Olmos, Elvis Atanga, Abdolkarim Hosseini, Deepali Mitragotri, Eric Crombez

    Vydáno 2025
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  7. 7
    Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities

    Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities Autor Fuad Chowdhury, Lei Wang, Mohammed Al‐Raqad, David J. Amor, A Baxová, Šárka Bendová, Elisa Biamino, Alfredo Brusco, Oana Caluseriu, Nancy J. Cox, Tawfiq Froukh, Meral Gunay‐Aygun, Miroslava Hančárová, Devon Haynes, Solveig Heide, George Hoganson, Tadashi Kaname, Boris Keren, Kenjiro Kosaki, Kazuo Kubota, Jennifer Lemons, Maria A. Magriñá, Paul R. Mark, Marie McDonald, Sarah Montgomery, Gina M. Morley, Hidenori Ohnishi, Nobuhiko Okamoto, David Rodriguez‐Buritica, Patrick Rump, Zdeněk Sedláček, Krista Schatz, Haley Streff, Tomoko Uehara, Jagdeep S. Walia, Patricia G. Wheeler, Antje Wiesener, Christiane Zweier, Koichi Kawakami, Ingrid M. Wentzensen, Seema R. Lalani, Victoria Mok Siu, Weimin Bi, Tuğçe B. Balcı

    Vydáno 2021
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  8. 8
    Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations

    Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations Autor Hope Northrup, Mary E. Aronow, E. Martina Bebin, John J. Bissler, Thomas N. Darling, Petrus J. de Vries, Michael Frost, Zoë Fuchs, Elizabeth S. Gosnell, Nishant Gupta, Anna Jansen, Sergiusz Jóźwiak, J.C. Kingswood, Timothy K. Knilans, Francis X. McCormack, Ashley J. Pounders, Steven L. Roberds, David Rodriguez‐Buritica, Jonathan Roth, Julian R. Sampson, Steven Sparagana, Elizabeth A. Thiele, Howard L. Weiner, James W. Wheless, Alexander J. Towbin, Darcy A. Krueger, Nicholas M. P. Annear, Mary E. Aronow, Ute Bartels, E. Martina Bebin, Moncef Berhouma, John J. Bissler, Klemens Budde, Anna W. Byars, Harry T. Chugani, Edward W. Cowen, Peter B. Crino, Paolo Curatolo, Thomas N. Darling, Petrus de Vries, Daniel F. Dilling, David W. Dunn, Rosemary Ekong, Kevin C. Ess, David Neal Franz, Michael Frost, Zoë Fuchs, Elizabeth S. Gosnell, Lisa M. Guay‐Woodford, Nishant Gupta, Luciana A. Haddad, Anne Halbert, Adelaide A. Hebert, Elizabeth P. Henske, Gregory L. Holmes, Dena Hook, John C. Hulbert, Anna Jansen, Simon R. Johnson, Sergiusz Jóźwiak, Bryan H. King, J.C. Kingswood, Timothy K. Knilans, Mary Kay Koenig, Bruce R. Korf, Darcy A. Krueger, David J. Kwiatkowski, Francis X. McCormack, Joel Moss, David Mowat, Kate Mowrey, Rima Nabbout, Mark Nellist, Hope Northrup, Finbar O’Callaghan, Uday Patel, Ashley J. Pounders, E. Steve Roach, Steven L. Roberds, David Rodriguez‐Buritica, Robb L. Romp, Jonathan Roth, Micaela Rozenberg, Stephen J. Ruoss, Mustafa Şahin, Julian R. Sampson, Joshua Samuels, Matthias Sauter, Catherine Smith, Keyomaurs Soltani, Steven Sparagana, Shoba Srivastava, Clare Stuart, Joyce Teng, Elizabeth A. Thiele, Alexander J. Towbin, Andrew T. Trout, Agnies M. van Eeghen, Stephanie Vanclooster, Henry Z. Wang

    Vydáno 2021
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  9. 9
    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

    YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction Autor Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain, Alessandro Vitriolo, Raman Kumar, Evelyn Douglas, Eric Haan, Kenjiro Kosaki, Toshiki Takenouchi, Anita Rauch, Katharina Steindl, Eirik Frengen, Doriana Misceo, Christeen Ramane J. Pedurupillay, Petter Strømme, Jill A. Rosenfeld, Yunru Shao, William J. Craigen, Christian P. Schaaf, David Rodriguez‐Buritica, Laura S. Farach, Jennifer Friedman, Perla Thulin, Scott D. McLean, Kimberly Nugent, Jenny Morton, Jillian Nicholl, Joris Andrieux, Asbjørg Stray‐Pedersen, Pascal Chambon, Sophie Patrier, Sally Ann Lynch, Susanne Kjærgaard, Pernille Mathiesen Tørring, Charlotte Brasch‐Andersen, Anne Ronan, Arie van Haeringen, Peter J. Anderson, Zöe Powis, Han G. Brunner, Rolph Pfundt, Janneke Schuurs-Hoeijmakers, Bregje W.M. van Bon, Stefan H. Lelieveld, Christian Gilissen, Willy M. Nillesen, Lisenka E.L.M. Vissers, Jozef Gécz, David A. Koolen, Giuseppe Testa, Bert B.A. de Vries

    Vydáno 2017
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