Search Results - "Borja, Nicholas"

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  1. 1

    Genome sequencing reveals novel noncoding variants in PLA2G6 and LMNB1 causing progressive neurologic disease.

    Authors: Borja, Nicholas Bivona, Stephanie Peart, Lé Shon et al.

    Source: Molecular Genetics & Genomic Medicine. Apr2022, Vol. 10 Issue 4, p1-9. 9p.

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  2. 2

    Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.

    Authors: Dohrn, Maike F. Bademci, Guney Rebelo, Adriana P. et al.

    Source: Annals of Clinical & Translational Neurology. Apr2024, Vol. 11 Issue 4, p1075-1079. 5p.

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  3. 3

    Novel KMT2D pathogenic variant causing Kabuki Syndrome with associated macular abnormalities and retinopathy of prematurity.

    Authors: López-Font, Francisco J. De Arrigunaga, Sofia Santos da Cruz, Natasha F. et al.

    Source: Ophthalmic Genetics. Oct2025, Vol. 46 Issue 5, p489-494. 6p.

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  4. 4

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  5. 5

    Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.

    Authors: Borja, Nicholas A. Tinker, Rory J. Bivona, Stephanie A. et al.

    Source: American Journal of Medical Genetics. Part A; Feb2025, Vol. 197 Issue 2, p1-7, 7p

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  6. 6

    H4C5 missense variant leads to a neurodevelopmental phenotype overlapping with Angelman syndrome.

    Authors: Borja, Nicholas Borjas‐Mendoza, Paulo Bivona, Stephanie et al.

    Source: American Journal of Medical Genetics. Part A; Jul2023, Vol. 191 Issue 7, p1911-1916, 6p

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  7. 7

    Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome.

    Authors: Borja, Nicholas Zafeer, Mohammad Faraz Rodriguez, Jeimy Alfonso et al.

    Source: American Journal of Medical Genetics. Part A; Apr2023, Vol. 191 Issue 4, p1044-1049, 6p

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  8. 8

    Abstract Book: Society of Surgical Oncology 69(th) Annual Cancer Symposium.

    Source: Annals of surgical oncology [Ann Surg Oncol] 2016 Feb; Vol. 23 Suppl 1, pp. 1-195.

    Publication Type: Journal Article

    Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 9420840 Publication Model: Print Cited Medium: Internet ISSN: 1534-4681 (Electronic) Linking ISSN: 10689265 NLM ISO Abbreviation: Ann Surg Oncol Subsets: PubMed not MEDLINE

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