Search Results - "Swols DM"

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  1. 1

    A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss.

    Authors: Chen R Swols DM Bademci G et al.

    Source: American journal of medical genetics. Part A [Am J Med Genet A] 2026 Feb; Vol. 200 (2), pp. 531-534. Date of Electronic Publication: 2025 Oct 13.

    Publication Type: Case Reports; Journal Article

    Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

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  2. 2

    A clinical and genotype-phenotype analysis of MACF1 variants.

    Authors: Dekker J Schot R Aldinger KA et al.

    Source: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2363-2380. Date of Electronic Publication: 2025 Sep 08.

    Publication Type: Journal Article; Research Support, N.I.H., Extramural

    Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

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  3. 3

    Genome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies.

    Authors: Hussain A Villalba MF Swols DM et al.

    Source: Scientific reports [Sci Rep] 2025 Jan 02; Vol. 15 (1), pp. 518. Date of Electronic Publication: 2025 Jan 02.

    Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE

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  4. 4

    Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida.

    Authors: Thanikachalam S Hodapp E Chang TC et al.

    Source: Genes [Genes (Basel)] 2020 Mar 26; Vol. 11 (4). Date of Electronic Publication: 2020 Mar 26.

    Publication Type: Journal Article; Research Support, Non-U.S. Gov't

    Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

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