תוצאות חיפוש - David Skidmore

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  1. 1
    Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease

    Mutation in the Gene Encoding Ubiquitin Ligase LRSAM1 in Patients with Charcot-Marie-Tooth Disease מאת Duane L. Guernsey, Haiyan Jiang, Karen Bedard, Susan C. Evans, Meghan Ferguson, Makoto Matsuoka, Christine Macgillivray, Mathew Nightingale, Scott Perry, Andrea L. Rideout, Andrew Orr, Mark D. Ludman, David Skidmore, Timothy Benstead, Mark E. Samuels

    יצא לאור 2010
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  2. 2
    The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

    The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists מאת Kym M. Boycott, Taila Hartley, Shelin Adam, François Bernier, Karen Chong, Bridget A. Fernandez, Jan M. Friedman, Michael T. Geraghty, Stacey Hume, Bartha Maria Knoppers, Anne‐Marie Laberge, Jacek Majewski, Roberto Mendoza‐Londono, M. Stephen Meyn, Jacques L. Michaud, Tanya N. Nelson, Julie Richer, Bekim Sadiković, David Skidmore, Tracy Stockley, Sherry Taylor, Clara van Karnebeek, Ma’n H. Zawati, Julie Lauzon, Christine M. Armour

    יצא לאור 2015
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  3. 3
    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization

    Investigation of<i>NRXN1</i>deletions: Clinical and molecular characterization מאת Mindy Preston Dabell, Jill A. Rosenfeld, Patricia I. Bader, Luis Escobar, Dima El‐Khechen, Stephanie E. Vallee, Mary Beth Dinulos, Cynthia J. Curry, Jamie Fisher, Raymond C. Tervo, Mark C. Hannibal, Kiana Siefkas, Philip Wyatt, Lauren S. Hughes, Rosemarie Smith, Sara Ellingwood, Yves Lacassie, Tracy Stroud, Sandra A. Farrell, Pedro A. Sanchez‐Lara, Linda M. Randolph, Dmitriy Niyazov, Cathy A. Stevens, Cheri Schoonveld, David Skidmore, Sara MacKay, Judith H. Miles, Manikum Moodley, Adam Huillet, Nicholas J. Neill, Jay W. Ellison, Blake C. Ballif, Lisa G. Shaffer

    יצא לאור 2013
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  4. 4
    Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

    Meier–Gorlin syndrome genotype–phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis מאת Sonja A. de Munnik, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever, Michael B. Bober, Jill Clayton‐Smith, Alaa Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. M. Hennekam, M. C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, William Reardon, Alison Ross, Pierre Sarda, C. T. R. M. Schrander‐Stumpel, Jeroen Schoots, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers

    יצא לאור 2012
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  5. 5
    Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

    Meier–Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder מאת Sonja A. de Munnik, Barto J. Otten, Jeroen Schoots, Louise S. Bicknell, Salim Aftimos, Jumana Y. Al‐Aama, Yolande van Bever, Michael B. Bober, George F. Borm, Jill Clayton‐Smith, Cheri Deal, Alaa Edrees, Murray Feingold, Alan Fryer, Johanna M. van Hagen, Raoul C. M. Hennekam, M. C. E. Jansweijer, Diana Johnson, Sarina G. Kant, John M. Opitz, A. Radha Ramadevi, William Reardon, Alison Ross, Pierre Sarda, C. T. R. M. Schrander‐Stumpel, A. Erik Sluiter, I. Karen Temple, Paulien A. Terhal, Annick Toutain, Carol A. Wise, Michael Wright, David Skidmore, Mark E. Samuels, Lies H. Hoefsloot, Nine Knoers, Han G. Brunner, Andrew P. Jackson, Ernie M.H.F. Bongers

    יצא לאור 2012
    קבל טקסט מלא קבל טקסט מלא
    Artigo
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  6. 6
    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia

    Biallelic Variants in the Ectonucleotidase <scp><i>ENTPD1</i></scp> Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, a... מאת Daniel G. Calame, Isabella Herman, Reza Maroofian, Aren E. Marshall, Karina Carvalho Donis, Jawid M. Fatih, Tadahiro Mitani, Haowei Du, Christopher M. Grochowski, Sérgio B. Sousa, Charul Gijavanekar, Somayeh Bakhtiari, Yoko Itō, Clarissa Rocca, Jill V. Hunter, V. Reid Sutton, Lisa Emrick, Kym M. Boycott, Alexander Lossos, Yakov Fellig, Eugenia Prus, Yosef Kalish, Vardiella Meiner, Manon Suerink, Claudia Ruivenkamp, Kayla Muirhead, Nebal Waill Saadi, Maha S. Zaki, Arjan Bouman, Tahsin Stefan Barakat, David Skidmore, Matthew Osmond, Thiago Oliveira Silva, David Murphy, Ehsan Ghayoor Karimiani, Yalda Jamshidi, Asaad Ghanim Jaddoa, Homa Tajsharghi, Sheng Chih Jin, Mohammad Reza Abbaszadegan, Reza Ebrahimzadeh‐Vesal, Susan Hosseini, Shahryar Alavi, Amir Bahreini, Elahe Zarean, Mohammad Mehdi Salehi, Nouriya Al‐Sannaa, Giovanni Zifarelli, Peter Bauer, Simon C. Robson, Zeynep Coban‐Akdemir, Lorena Travaglini, Francesco Nicita, Shalini N. Jhangiani, Richard A. Gibbs, Jennifer E. Posey, Michael C. Kruer, Kristin D. Kernohan, Jonas Alex Morales Saute, Henry Houlden, Adeline Vanderver, Sarah H. Elsea, Davut Pehli̇van, Dana Marafi, James R. Lupski

    יצא לאור 2022
    קבל טקסט מלא
    Artigo
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