Canlyniadau Chwilio - Danielle Gleason
- Dangos 1 - 7 canlyniadau o 7
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1
A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly gan Ganeshwaran H. Mochida, Muhammad Mahajnah, Anthony D. Hill, Lina Basel‐Vanagaite, Danielle Gleason, Robert Hill, Adria Bodell, Moira Crosier, Rachel Straussberg, Christopher A. Walsh
Cyhoeddwyd 2009Artigo -
2
A Homozygous Mutation in the Tight-Junction Protein JAM3 Causes Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts gan Ganeshwaran H. Mochida, Vijay Ganesh, Jillian M. Felie, Danielle Gleason, R. Sean Hill, Katharine Clapham, Daniel P. Rakiec, Wen‐Hann Tan, Nadia Akawi, Muna Al‐Saffar, Jennifer N. Partlow, Sigrid Tinschert, A. James Barkovich, Bassam R. Ali, Lihadh Al‐Gazali, Christopher A. Walsh
Cyhoeddwyd 2010Artigo -
3
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair gan Jun Shen, Edward C. Gilmore, Christine A Marshall, Mary Haddadin, John J. Reynolds, Wafaa Eyaid, Adria Bodell, Brenda J. Barry, Danielle Gleason, Kathryn Allen, Vijay Ganesh, Bernard S. Chang, Arthur Grix, Robert Hill, Meral Topçu, Keith W. Caldecott, A. James Barkovich, Christopher A. Walsh
Cyhoeddwyd 2010Artigo -
4
Ethnically diverse causes of Walker-Warburg syndrome (WWS):<i>FCMD</i>mutations are a more common cause of WWS outside of the Middle East gan M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, Robert Hill, Brenda J. Barry, Jennifer N. Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin‐Parton, Lawrence R. Shapiro, Karen Schmidt, Jessica G. Davis, Lina Basel‐Vanagaite, Mohamed Z. Seidahmed, Mustafa A. Salih, William B. Dobyns, Christopher A. Walsh
Cyhoeddwyd 2008Artigo -
5
CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis gan M. Chiara Manzini, Lan Xiong, Ranad Shaheen, Dimira Tambunan, Stefania Di Costanzo, Vanessa Mitisalis, David J. Tischfield, Antonella Cinquino, Mohammed Ghaziuddin, Mehtab Christian, Qin Jiang, Sandra B. Laurent, Zohair Nanjiani, Saima Rasheed, Robert Hill, Sofia B. Lizarraga, Danielle Gleason, M. Diya Sabbagh, Mustafa A. Salih, Fowzan S. Alkuraya, Christopher A. Walsh
Cyhoeddwyd 2014Artigo -
6
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development gan Ganeshwaran H. Mochida, Vijay Ganesh, María I. de Michelena, Hugo Dias, Kutay Deniz Atabay, Katie L. Kathrein, Hsuan-Ting Huang, Robert Hill, Jillian M. Felie, Daniel P. Rakiec, Danielle Gleason, Anthony D. Hill, Athar N. Malik, Brenda J. Barry, Jennifer N. Partlow, Wen‐Hann Tan, Laurie Glader, A. James Barkovich, William B. Dobyns, Leonard I. Zon, Christopher A. Walsh
Cyhoeddwyd 2012Artigo -
7
Identifying Autism Loci and Genes by Tracing Recent Shared Ancestry gan Eric M. Morrow, Seung-Yun Yoo, Steven W. Flavell, Tae-Kyung Kim, Yingxi Lin, Robert Hill, Nahit Motavallı Mukaddes, Soher Balkhy, Generoso G. Gascon, Asif Hashmi, Samira Al-Saad, Janice Ware, Robert M. Joseph, Rachel Greenblatt, Danielle Gleason, Julia A. Ertelt, Kira Apse, Adria Bodell, Jennifer N. Partlow, Brenda J. Barry, Hui Yao, Kyriacos Markianos, Russell J. Ferland, Michael E. Greenberg, Christopher A. Walsh
Cyhoeddwyd 2008Artigo
Offerynnau Chwilio:
Pynciau Perthynol
Biology
Gene
Genetics
Mutation
Disease gene identification
Exome sequencing
Cadherin
Cell
Cell biology
Microcephaly
Missense mutation
Nonsense mutation
Adherens junction
Alternative splicing
Autism
BMI1
Chromatin
Chromatin immunoprecipitation
Congenital muscular dystrophy
DNA repair
Developmental psychology
Exon
Frameshift mutation
Function (biology)
Gene expression
Gene knockdown
Homeostasis
Intellectual disability
Locus (genetics)
Medicine