Хайлтын үр дүнгүүд - Princess C. Elhosary
- 7-н 1 - 7 үр дүнгүүдийг харуулж байна
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Homozygous <i>PLCB1</i> deletion associated with malignant migrating partial seizures in infancy -н 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
Хэвлэсэн 2012Artigo -
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Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations -н 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
Хэвлэсэн 2012Artigo -
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Mutations in PYCR2, Encoding Pyrroline-5-Carboxylate Reductase 2, Cause Microcephaly and Hypomyelination -н 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
Хэвлэсэн 2015Artigo -
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<i>SLC25A22</i>is a novel gene for migrating partial seizures in infancy -н 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
Хэвлэсэн 2013Artigo -
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Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor <i>DONSON</i> as the cause of microcephaly-micromelia syndrome -н 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
Хэвлэсэн 2017Artigo
Хайх хэрэгслүүд:
Холбогдох сэдвүүд
Biology
Gene
Genetics
Genome
Neuroscience
Copy-number variation
Human genome
Somatic cell
Chromosome
Epilepsy
Microcephaly
Psychology
Aneuploidy
Chromosome 21
Comparative genomic hybridization
Complex partial seizures
Computational biology
Developmental psychology
Exon
Gene duplication
Gene expression
Gene knockdown
Human brain
Locus (genetics)
Medicine
Molecular biology
Mutation
Neurogenesis
Ploidy
Proband