Rezultaty - Princess C. Elhosary

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  1. 1
    Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

    Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain od Xuyu Cai, Gilad D. Evrony, Hillel S. Lehmann, Princess C. Elhosary, Bhaven K. Mehta, Annapurna Poduri, Christopher A. Walsh

    Wydane 2014
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  2. 2
    Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

    Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain od Xuyu Cai, Gilad D. Evrony, Hillel S. Lehmann, Princess C. Elhosary, Bhaven K. Mehta, Annapurna Poduri, Christopher A. Walsh

    Wydane 2015
    Dokumenty pełnotekstowe Dokumenty pełnotekstowe
    Errata/Corrigenda
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  3. 3
    Homozygous <i>PLCB1</i> deletion associated with malignant migrating partial seizures in infancy

    Homozygous <i>PLCB1</i> deletion associated with malignant migrating partial seizures in infancy od Annapurna Poduri, Sameer S. Chopra, Edward Neilan, Princess C. Elhosary, Manju A. Kurian, Esther Meyer, Brenda J. Barry, Omar Khwaja, Mustafa A. Salih, Tommy Stödberg, Ingrid E. Scheffer, Eamonn R. Maher, Mustafa Şahin, Bai‐Lin Wu, Gerard T. Berry, Christopher A. Walsh, Jonathan Picker, Sanjeev V. Kothare

    Wydane 2012
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  4. 4
    Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

    Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations od Annapurna Poduri, Gilad D. Evrony, Xuyu Cai, Princess C. Elhosary, Rameen Beroukhim, Maria K. Lehtinen, L. Benjamin Hills, Erin L. Heinzen, Anthony D. Hill, R. Sean Hill, Brenda J. Barry, Blaise F. D. Bourgeois, James J. Riviello, A. James Barkovich, Peter McL. Black, Keith L. Ligon, Christopher A. Walsh

    Wydane 2012
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  5. 5
    Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination

    Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination od Tojo Nakayama, Almundher Al‐Maawali, Malak El‐Quessny, Anna Rajab, Samir Khalil, Joan M. Stoler, Wen‐Hann Tan, Ramzi Nasir, Klaus Schmitz‐Abe, Robert Hill, Jennifer N. Partlow, Muna Al‐Saffar, Sarah Servattalab, Christopher M. LaCoursiere, Dimira Tambunan, Michael E. Coulter, Princess C. Elhosary, Grzegorz Górski, A. James Barkovich, Kyriacos Markianos, Annapurna Poduri, Ganeshwaran H. Mochida

    Wydane 2015
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  6. 6
    <i>SLC25A22</i>is a novel gene for migrating partial seizures in infancy

    <i>SLC25A22</i>is a novel gene for migrating partial seizures in infancy od Annapurna Poduri, Erin L. Heinzen, Vida Chitsazzadeh, Francesco M. Lasorsa, Princess C. Elhosary, Christopher M. LaCoursiere, Emilie Martin, Christopher J. Yuskaitis, Robert Hill, Kutay Deniz Atabay, Brenda J. Barry, Jennifer N. Partlow, Fahad A. Bashiri, Radwan M. Zeidan, Salah A. Elmalik, Mohammad M. Kabiraj, Sanjeev V. Kothare, Tommy Stödberg, Amy McTague, Manju A. Kurian, Ingrid E. Scheffer, A. James Barkovich, Ferdinando Palmieri, Mustafa A. Salih, Christopher A. Walsh

    Wydane 2013
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  7. 7
    Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndrome

    Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndrome od Gilad D. Evrony, Dwight R. Cordero, Jun Shen, Jennifer N. Partlow, Timothy W. Yu, Rachel E. Rodin, Robert Hill, Michael E. Coulter, Anh-Thu N. Lam, Divya Jayaraman, Dianne Gerrelli, Diana Gold Diaz, Chloe Santos, Victoria Morrison, Antonella Galli, Ulrich Tschulena, Stefan Wiemann, Marie-Jocelyne Martel, Betty Anne Spooner, Steven C. Ryu, Princess C. Elhosary, Jillian M. Richardson, Danielle Tierney, Christopher A. Robinson, Rajni Chibbar, Dana Diudea, Rebecca D. Folkerth, Sheldon Wiebe, A. James Barkovich, Ganeshwaran H. Mochida, James Irvine, Edmond G. Lemire, Patricia M. Blakley, Christopher A. Walsh

    Wydane 2017
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