Showing 1 - 8 results of 8 for search 'Tiziano Pramparo', query time: 0.03s Refine Results
  1. 1
    Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis

    Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis by Tiziano Pramparo, Robert D. Steiner, Steve Rodems, Celia Jenkinson

    Published 2023-01-01
    Get full text
    Article
  2. 2
    Hierarchical cortical transcriptome disorganization in autism

    Hierarchical cortical transcriptome disorganization in autism by Michael V. Lombardo, Eric Courchesne, Nathan E. Lewis, Tiziano Pramparo

    Published 2017-06-01
    Get full text
    Article
  3. 3
    P561: Population-based incidence estimates of classical homocystinuria using the Genome Aggregation Database (gnomAD)

    P561: Population-based incidence estimates of classical homocystinuria using the Genome Aggregation Database (gnomAD) by Tiziano Pramparo, Henk Blom, Ida Vanessa Schwartz, Steve Rodems, Frederick Roth

    Published 2023-01-01
    Get full text
    Article
  4. 4
    O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)*

    O06: Insights from the first genetic evaluation of a longitudinal natural history study in classical homocystinuria (HCU)* by Tiziano Pramparo, Kimberly Chapman, Ying Chen, Can Ficicioglu, Harvey Levy, Janet Thomas, Sagar Vaidya, Steve Rodems, Ellen Crushell

    Published 2023-01-01
    Get full text
    Article
  5. 5
    Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defects.

    Global developmental gene expression and pathway analysis of normal brain development and mouse models of human neuronal migration defects. by Tiziano Pramparo, Ondrej Libiger, Sonia Jain, Hong Li, Yong Ha Youn, Shinji Hirotsune, Nicholas J Schork, Anthony Wynshaw-Boris

    Published 2011-03-01
    Get full text
    Article
  6. 6
    P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1

    P020: Recommendations from the ClinGen Peroxisomal Variant Curation Expert Panel for variant classification in ABCD1 by Shruthi Mohan, Irene De Biase, Tatiana Yuzyuk, Alexa Dickson, Tiziano Pramparo, Stephanie Francis, Meredith Weaver, Raquel Fernandez, Sharon Suchy, Ann Moser, Rong Mao, Nancy Braverman

    Published 2024-01-01
    Get full text
    Article
  7. 7
    Multiple freeze-thaw cycles lead to a loss of consistency in poly(A)-enriched RNA sequencing

    Multiple freeze-thaw cycles lead to a loss of consistency in poly(A)-enriched RNA sequencing by Benjamin P. Kellman, Hratch M. Baghdassarian, Tiziano Pramparo, Isaac Shamie, Vahid Gazestani, Arjana Begzati, Shangzhong Li, Srinivasa Nalabolu, Sarah Murray, Linda Lopez, Karen Pierce, Eric Courchesne, Nathan E. Lewis

    Published 2021-01-01
    Get full text
    Article
  8. 8
    Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages.

    Age-dependent brain gene expression and copy number anomalies in autism suggest distinct pathological processes at young versus mature ages. by Maggie L Chow, Tiziano Pramparo, Mary E Winn, Cynthia Carter Barnes, Hai-Ri Li, Lauren Weiss, Jian-Bing Fan, Sarah Murray, Craig April, Haim Belinson, Xiang-Dong Fu, Anthony Wynshaw-Boris, Nicholas J Schork, Eric Courchesne

    Published 2012-01-01
    Get full text
    Article

Search Tools: