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11 merged results for "Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities"

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  1. A Large-Scale Cross-Population Evaluation of Genetic Risk Variants for Dilated Cardiomyopathy in Dobermanns.

    Hulsman AH, Flokstra G, Kijan C, van Rumpt M · 2026 · Anim Genet

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in europe-pmc · DOI 10.1002/age.70206

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  2. Society for Maternal-Fetal Medicine Consult Series #74: Cell-free DNA screening for aneuploidies: Updated guidance.

    Society for Maternal‐Fetal Medicine (SMFM), Rink BD, Dugoff L, Kuller JA · 2025 · Pregnancy (Hoboken)

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in europe-pmc · DOI 10.1002/pmf2.70139

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  3. Diverging guidelines and consensus statements on preimplantation genetic testing for aneuploidy: indications and strategies reviewed.

    Sichenze L, Fiore A, Casalechi M, Somigliana E · 2026 · Reprod Biol Endocrinol

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in europe-pmc · DOI 10.1186/s12958-026-01545-w

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  4. Protocol for a prospective observational cohort study to assess clinical applications of expanded noninvasive prenatal testing (NIPT) in pregnancies with placental dysfunction.

    Villalba A, Sánchez-Durán MÁ, Orellana C, Sobreviela M · 2026 · PLoS One

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in europe-pmc · DOI 10.1371/journal.pone.0344772

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    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  5. Correlation between reproductive hormone levels and genetic abnormalities in patients with non-obstructive azoospermia and oligospermia.

    Fu Y, Hu L, Liu J, Pei Y · 2026 · Transl Androl Urol

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in europe-pmc · DOI 10.21037/tau-2026-1-0045

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    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  6. Molecular pathogenesis, diagnosis, and management challenges in complete androgen insensitivity syndrome.

    Wang C, Tian Q. · 2025 · Front Endocrinol (Lausanne)

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in europe-pmc · DOI 10.3389/fendo.2025.1600343

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  7. Recurrent Hodgkin's Lymphoma Detected Using Abnormal NIPT in Pregnancy: A Case Report and Literature Review.

    Szlek C, Punukollu P, Grater L, Ware D · 2026 · Diagnostics (Basel)

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in europe-pmc · DOI 10.3390/diagnostics16101490

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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  8. The Morphology of the Genital Tubercle: A Macroscopic Assessment and Ultrasound Approach on Early Fetal Sex Determination.

    Munteanu O, Cirstoiu MM, Bohiltea R, Baloiu AI · 2026 · Diagnostics (Basel)

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in europe-pmc · DOI 10.3390/diagnostics16162626

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    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  9. Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.

    Treccarichi S, Vinci M, Virgillito M, Musumeci A · 2026 · Int J Mol Sci

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in europe-pmc · DOI 10.3390/ijms27073278

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    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  10. Clinical Spectrum, Surgical Management, and Outcomes of <i>NR5A1</i>-Related 46,XY Differences of Sex Development: A Narrative Review.

    Vicario S, Escolino M, Esposito G, Porcaro M · 2025 · Medicina (Kaunas)

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in europe-pmc · DOI 10.3390/medicina61111965

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    • not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • not scoredPublication license: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
  11. Порівняльне Дослідження Фізіологічної Активності Води Нафтуся Трускавецького І Помірецького Родовищ = Comparative Investigation Of Physiological Activity Of Water Naftussya From Truskavets' And Pomyarky Deposits

    Sydoruk, NO, Chebanenko, OI, Popovych, IL, Zukow, W · 2017

    limited evidence Transparent signal score 47/100 · policy 1.0.0

    Found in datacite, datacite · DOI 10.5281/zenodo.1117096

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    • not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete. Source: Retraction Watch; license: CC BY 4.0
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    • supportingOpen access status: Normalized open-access status: open. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
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    • not scoredPublication version: A publication version was supplied but is not scored. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer
    • cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty. Source: Normalized work metadata; license: Caller-provided; provenance license not supplied to scorer