Sökresultat - Tyler Reimschisel

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  1. 1
    Impact of congenital talipes equinovarus etiology on treatment outcomes

    Impact of congenital talipes equinovarus etiology on treatment outcomes av Christina A. Gurnett, Stephanie Boehm, Anne M. Connolly, Tyler Reimschisel, Matthew B. Dobbs

    Publicerad 2008
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  2. 2
    Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

    Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females av Magdalena Bartnik, Katarzyna Derwińska, Monika Goś, Ewa Obersztyn, Katarzyna Kołodziejska, Ayelet Erez, Agnieszka Szpecht-Potocka, Ping Fang, Iwona Terczyńska, Hanna Mierzewska, Naomi J. Lohr, Gary A. Bellus, Tyler Reimschisel, Ewa Bocian, Tadeusz Mazurczak, Sau Wai Cheung, Paweł Stankiewicz

    Publicerad 2011
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  3. 3
    Phenotypic manifestations of copy number variation in chromosome 16p13.11

    Phenotypic manifestations of copy number variation in chromosome 16p13.11 av Sandesh C. Sreenath Nagamani, Ayelet Erez, Patricia I. Bader, Seema R. Lalani, Daryl A. Scott, Fernando Scaglia, Sharon E. Plon, Chun-Hui Tsai, Tyler Reimschisel, Elizabeth Roeder, Amy D. Malphrus, Patricia A. Eng, Patricia Hixson, Sung-Hae L. Kang, Paweł Stankiewicz, Ankita Patel, Sau Wai Cheung

    Publicerad 2010
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  4. 4
    Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A

    Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A av Ian M. Campbell, Svetlana A. Yatsenko, Patricia Hixson, Tyler Reimschisel, Matthew Thomas, William G. Wilson, Usha Dayal, James W. Wheless, Amy Crunk, Cynthia J. Curry, Nicole Parkinson, Leona Fishman, James J. Riviello, Małgorzata J.M. Nowaczyk, Susan Zeesman, Jill A. Rosenfeld, Bassem A. Bejjani, Lisa G. Shaffer, Sau Wai Cheung, James R. Lupski, Paweł Stankiewicz, Fernando Scaglia

    Publicerad 2012
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  5. 5
    Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia

    Mutations in GPAA1 , Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia av Thi Tuyet Mai Nguyen, Yoshiko Murakami, Eamonn Sheridan, Sophie Ehresmann, Justine Rousseau, Anik St‐Denis, Guoliang Chai, Norbert Fonya Ajeawung, Laura Fairbrother, Tyler Reimschisel, Alexandra Bateman, Elizabeth Berry‐Kravis, Fan Xia, Jessica Tardif, David Parry, Clare V. Logan, Christine P. Diggle, Christopher Bennett, Louise Hattingh, Jill A. Rosenfeld, Μ. Scott Perry, Michael Parker, Françoise Le Deist, Maha S. Zaki, Erika Ignatius, Pirjo Isohanni, Tuula Lönnqvist, Christopher J. Carroll, Colin A. Johnson, Joseph G. Gleeson, Taroh Kinoshita, Philippe M. Campeau

    Publicerad 2017
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  6. 6
    Detection of clinically relevant exonic copy-number changes by array CGH

    Detection of clinically relevant exonic copy-number changes by array CGH av Philip M. Boone, Carlos A. Bacino, Chad A. Shaw, Patricia A. Eng, Patricia Hixson, Amber N. Pursley, Sung-Hae L. Kang, Yaping Yang, Joanna Wiszniewska, Beata Nowakowska, Daniela del Gaudio, Zhilian Xia, Gayle Simpson-Patel, LaDonna Immken, James B. Gibson, Anne Tsai, Jennifer A. Bowers, Tyler Reimschisel, Christian P. Schaaf, Lorraine Potocki, Fernando Scaglia, Tomasz Gambin, Maciej Sykulski, Magdalena Bartnik, Katarzyna Derwińska, Barbara Wiśniowiecka‐Kowalnik, Seema R. Lalani, Frank J. Probst, Weimin Bi, Arthur L. Beaudet, Ankita Patel, James R. Lupski, Sau Wai Cheung, Paweł Stankiewicz

    Publicerad 2010
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  7. 7
    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

    Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society av Sumit Parikh, Amy Goldstein, Amel Karaa, Mary Kay Koenig, Irina Anselm, Catherine Brunel‐Guitton, John Christodoulou, Bruce H. Cohen, David Dimmock, Gregory M. Enns, Marni J. Falk, Annette Feigenbaum, Richard E. Frye, Jaya Ganesh, David A. Griesemer, Richard Haas, Rita Horváth, Mark Korson, Michael C. Kruer, Michelangelo Mancuso, Shana E. McCormack, Marie Josée Raboisson, Tyler Reimschisel, Ramona Salvarinova, Russell P. Saneto, Fernando Scaglia, John M. Shoffner, Peter W. Stacpoole, Carolyn M. Sue, Mark A. Tarnopolsky, Clara van Karnebeek, Lynne A. Wolfe, Zarazuela Zolkipli Cunningham, Shamima Rahman, Patrick F. Chinnery

    Publicerad 2017
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  8. 8
    Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

    Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities av Nicola Brunetti‐Pierri, Jonathan S. Berg, Fernando Scaglia, John W. Belmont, Carlos A. Bacino, Trilochan Sahoo, Seema R. Lalani, Brett H. Graham, Brendan Lee, Marwan Shinawi, Joseph Shen, Sung-Hae L. Kang, Amber N. Pursley, Timothy Lotze, Gail Kennedy, Susan Lansky-Shafer, Christine A. Weaver, Elizabeth Roeder, Theresa A. Grebe, Georgianne L. Arnold, Terry Hutchison, Tyler Reimschisel, Stephen Amato, Michael T Geragthy, Jeffrey W. Innis, Ewa Obersztyn, Beata Nowakowska, Sally Rosengren, Patricia I. Bader, Dorothy K. Grange, Sayed Naqvi, Adolfo D. Garnica, Saunder Bernes, Chin-To Fong, Anne Summers, William D. Walters, James R. Lupski, Paweł Stankiewicz, Sau Wai Cheung, Ankita Patel

    Publicerad 2008
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