Hasil Pencarian - Daniele Merico

  • Menampilkan 1 - 16 hasil dari 16
Perbaiki Hasil
  1. 1
    A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction

    A curated census of pathogenic and likely pathogenic UTR variants and evaluation of deep learning models for variant effect prediction oleh Emma Bohn, Tammy T. Y. Lau, Omar Wagih, Tehmina Masud, Daniele Merico, Daniele Merico

    Diterbitkan 2023-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    Enrichment Map – a Cytoscape app to visualize and explore OMICs pathway enrichment results [v1; ref status: indexed, http://f1000r.es/3qs]

    Enrichment Map – a Cytoscape app to visualize and explore OMICs pathway enrichment results [v1; ref status: indexed, http://f1000r.es/3qs] oleh Ruth Isserlin, Daniele Merico, Veronique Voisin, Gary D. Bader

    Diterbitkan 2014-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    Enrichment map: a network-based method for gene-set enrichment visualization and interpretation.

    Enrichment map: a network-based method for gene-set enrichment visualization and interpretation. oleh Daniele Merico, Ruth Isserlin, Oliver Stueker, Andrew Emili, Gary D Bader

    Diterbitkan 2010-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    MicroRNA Expression during Bovine Oocyte Maturation and Fertilization

    MicroRNA Expression during Bovine Oocyte Maturation and Fertilization oleh Graham C. Gilchrist, Allison Tscherner, Thomas Nalpathamkalam, Daniele Merico, Jonathan LaMarre

    Diterbitkan 2016-03-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Using Next-Generation Sequencing Transcriptomics To Determine Markers of Post-traumatic Symptoms: Preliminary Findings from a Post-deployment Cohort of Soldiers

    Using Next-Generation Sequencing Transcriptomics To Determine Markers of Post-traumatic Symptoms: Preliminary Findings from a Post-deployment Cohort of Soldiers oleh Cathy Boscarino, Thomas Nalpathamkalam, Giovanna Pellecchia, Weili Li, Bhooma Thiruvahindrapuram, Daniele Merico

    Diterbitkan 2019-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Transcriptional network of p63 in human keratinocytes.

    Transcriptional network of p63 in human keratinocytes. oleh Silvia Pozzi, Federico Zambelli, Daniele Merico, Giulio Pavesi, Amélie Robert, Peggy Maltère, Xavier Gidrol, Roberto Mantovani, M Alessandra Vigano

    Diterbitkan 2009-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

    A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome oleh Yael Dinur Schejter, Adi Ovadia, Roumiana Alexandrova, Bhooma Thiruvahindrapuram, Sergio L. Pereira, David E. Manson, Ajoy Vincent, Daniele Merico, Chaim M. Roifman

    Diterbitkan 2017-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease.

    Whole-genome sequencing suggests mechanisms for 22q11.2 deletion-associated Parkinson's disease. oleh Nancy J Butcher, Daniele Merico, Mehdi Zarrei, Lucas Ogura, Christian R Marshall, Eva W C Chow, Anthony E Lang, Stephen W Scherer, Anne S Bassett

    Diterbitkan 2017-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia

    Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia oleh Bahareh A. Mojarad, Yue Yin, Roozbeh Manshaei, Ian Backstrom, Gregory Costain, Tracy Heung, Daniele Merico, Christian R. Marshall, Anne S. Bassett, Ryan K. C. Yuen

    Diterbitkan 2021-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.

    Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. oleh Candice K Silversides, Anath C Lionel, Gregory Costain, Daniele Merico, Ohsuke Migita, Ben Liu, Tracy Yuen, Jessica Rickaby, Bhooma Thiruvahindrapuram, Christian R Marshall, Stephen W Scherer, Anne S Bassett

    Diterbitkan 2012-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia

    Impact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia oleh Chelsea Lowther, Daniele Merico, Gregory Costain, Jack Waserman, Kerry Boyd, Abdul Noor, Marsha Speevak, Dimitri J. Stavropoulos, John Wei, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett

    Diterbitkan 2017-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    Homozygous duplication identified by whole genome sequencing causes LRBA deficiency

    Homozygous duplication identified by whole genome sequencing causes LRBA deficiency oleh Daniele Merico, Yehonatan Pasternak, Mehdi Zarrei, Edward J. Higginbotham, Bhooma Thiruvahindrapuram, Ori Scott, Jessica Willett-Pachul, Eyal Grunebaum, Julia Upton, Adelle Atkinson, Vy H. D. Kim, Elbay Aliyev, Khalid Fakhro, Stephen W. Scherer, Chaim M. Roifman

    Diterbitkan 2021-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  13. 13
    Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

    Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons oleh Eric Deneault, Sean H. White, Deivid C. Rodrigues, P. Joel Ross, Muhammad Faheem, Kirill Zaslavsky, Zhuozhi Wang, Roumiana Alexandrova, Giovanna Pellecchia, Wei Wei, Alina Piekna, Gaganjot Kaur, Jennifer L. Howe, Vickie Kwan, Bhooma Thiruvahindrapuram, Susan Walker, Anath C. Lionel, Peter Pasceri, Daniele Merico, Ryan K.C. Yuen, Karun K. Singh, James Ellis, Stephen W. Scherer

    Diterbitkan 2018-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  14. 14
    Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences

    Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences oleh Roozbeh Manshaei, Daniele Merico, Daniele Merico, Miriam S. Reuter, Miriam S. Reuter, Worrawat Engchuan, Bahareh A. Mojarad, Rajiv Chaturvedi, Rajiv Chaturvedi, Tracy Heung, Tracy Heung, Giovanna Pellecchia, Mehdi Zarrei, Mehdi Zarrei, Thomas Nalpathamkalam, Reem Khan, John B. A. Okello, Eriskay Liston, Meredith Curtis, Ryan K. C. Yuen, Ryan K. C. Yuen, Ryan K. C. Yuen, Christian R. Marshall, Christian R. Marshall, Christian R. Marshall, Christian R. Marshall, Rebekah K. Jobling, Rebekah K. Jobling, Erwin Oechslin, Rachel M. Wald, Rachel M. Wald, Candice K. Silversides, Stephen W. Scherer, Stephen W. Scherer, Stephen W. Scherer, Stephen W. Scherer, Raymond H. Kim, Raymond H. Kim, Raymond H. Kim, Anne S. Bassett, Anne S. Bassett, Anne S. Bassett, Anne S. Bassett, Anne S. Bassett

    Diterbitkan 2020-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  15. 15
    Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency

    Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency oleh Yehonatan Pasternak, MD, Linda Vong, PhD, Daniele Merico, PhD, Laura Abrego Fuentes, MD, Ori Scott, MD, Marina Sham, MD, Meghan Fraser, RN, Abby Watts-Dickens, CGC, Jessica Willett Pachul, RN, MN, Vy H.D. Kim, MD, MScCH, FRCPC, Christian R. Marshall, PhD, Stephen Scherer, PhD, Chaim M. Roifman, CM, MD, FRCPC, FCACB

    Diterbitkan 2024-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  16. 16
    Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder

    Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder oleh Ada J. S. Chan, Worrawat Engchuan, Miriam S. Reuter, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Brett Trost, Thomas Nalpathamkalam, Carol Negrijn, Sylvia Lamoureux, Giovanna Pellecchia, Rohan V. Patel, Wilson W. L. Sung, Jeffrey R. MacDonald, Jennifer L. Howe, Jacob Vorstman, Neal Sondheimer, Nicole Takahashi, Judith H. Miles, Evdokia Anagnostou, Kristiina Tammimies, Mehdi Zarrei, Daniele Merico, Dimitri J. Stavropoulos, Ryan K. C. Yuen, Bridget A. Fernandez, Stephen W. Scherer

    Diterbitkan 2022-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: