Showing 1 - 5 results of 5 for search 'Robert Roger Lebel', query time: 0.02s Refine Results
  1. 1
    P403: Genotype-phenotype analysis of interstitial deletion of chromosome 4q25q28.2: A case report

    P403: Genotype-phenotype analysis of interstitial deletion of chromosome 4q25q28.2: A case report by Gianna DeRoberts, Jennifer Black, Robert Roger Lebel

    Published 2025-01-01
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  2. 2
    P418: Novel presentation of congenital bile acid synthesis defect-3 with skeletal abnormalities and hypotonia

    P418: Novel presentation of congenital bile acid synthesis defect-3 with skeletal abnormalities and hypotonia by Hope Marshall, Jennifer Black, Robert Roger Lebel, Kristin Razawich

    Published 2025-01-01
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  3. 3
    P433: Inherited SHANK1 pathogenic variant in 3-year-old male with neurodevelopmental delay, behavioral challenges, laryngomalacia and overgrowth: A case report

    P433: Inherited SHANK1 pathogenic variant in 3-year-old male with neurodevelopmental delay, behavioral challenges, laryngomalacia and overgrowth: A case report by Carson Hobler, Jennifer Black, Nienke Dosa, Robert Roger Lebel

    Published 2025-01-01
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  4. 4
    P459: A 6-year-old male presenting with X-linked intellectual development disorder due to a unique pathogenic truncating variant in IL1RAPL1

    P459: A 6-year-old male presenting with X-linked intellectual development disorder due to a unique pathogenic truncating variant in IL1RAPL1 by Jackson Bright, Jennifer Black, Robert Roger Lebel, Nienke Dosa

    Published 2025-01-01
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  5. 5
    P469: Complex mosaicism for up to three marker chromosomes causing partial trisomy for portions of 1p and 10p-10q: A case

    P469: Complex mosaicism for up to three marker chromosomes causing partial trisomy for portions of 1p and 10p-10q: A case by Megan Marte, Claire Boring, Robert Roger Lebel, Jennifer Black, Sarah Mardanlou, Scott Smith

    Published 2025-01-01
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