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    These filters represent the three primary types of content included in the PMC archive: 1) content published in a scholarly journal 2) peer-reviewed author manuscripts accepted for publication in a journal and 3) preprint versions of articles collected through the NIH Preprint Pilot, made public prior to peer review

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    The PMC Open Access Subset includes journal articles and preprints that are made available under license terms that allow reuse. Historical back issues refers to digitized content from print journals made available in PMC through the Biomedical Journal Digitization Projects.

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Embargoed Articles:

The embargo is the time during which the publisher retains exclusive rights to distribute articles. Those articles are made freely available on the PMC website after the embargo period has ended. Citations for articles under an embargo period will still display in the PMC results list by default. Choose “Exclude” to prevent embargoed articles from displaying in your results.

  • Epidemiologic Features of Preterm Birth Among Infants With Trisomy 21 in Texas, 1999-2018.
    Sheriff FR, et al.
    Am J Med Genet A. Author manuscript. 2025.
    PMCID: PMC13644527
  • Extremity anomalies associated with Robinow syndrome.
    Abu-Ghname A, et al.
    Am J Med Genet A. Author manuscript. 2020.
    PMCID: PMC13619163
  • Neurocognitive, adaptive, and psychosocial functioning in individuals with Robinow syndrome.
    Schwartz DD, et al.
    Am J Med Genet A. Author manuscript. 2020.
    PMCID: PMC13619162
  • Characterization of the Robinow syndrome skeletal phenotype, bone micro-architecture, and genotype-phenotype correlations with the osteosclerotic form.
    Shayota BJ, et al.
    Am J Med Genet A. Author manuscript. 2020.
    PMCID: PMC13619164
  • The 9th International RASopathies Symposium.
    Castel P, et al.
    Am J Med Genet A. Author manuscript. 2026.
    PMCID: PMC13596094
  • Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.
    Rippert AL, et al.
    Am J Med Genet A. Author manuscript. 2026.
    PMCID: PMC13585440
  • 35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.
    Li MH, et al.
    Am J Med Genet A. Author manuscript. 2026.
    PMCID: PMC13577160
  • Neurodevelopmental and Mental Health Diagnoses Among Pediatric Patients With Turner Syndrome: A PEDSnet Study.
    Hutaff-Lee C, et al.
    Am J Med Genet A. Author manuscript. 2025.
    PMCID: PMC13166893
  • Clinical and Functional Characterization of Gain-of-Function ABL1 Variants Expands the Phenotypic Spectrum of CHDSKM.
    Zarate YA, et al.
    Am J Med Genet A. Author manuscript. 2026.
    PMCID: PMC13565347
  • Non-Mosaic Trisomy 9: Further Delineation of the Clinical Phenotype.
    Verscaj CP, et al.
    Am J Med Genet A. Author manuscript. 2025.
    PMCID: PMC13110400
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