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10 merged results for "Alagille Syndrome"

Partial results: at least one source did not answer. Available results are shown rather than treating an upstream outage as zero matches.

Source status
  1. Characterization of stem cells from exfoliated deciduous teeth from a patient with Alagille syndrome carrying a JAG1 mutation.

    Uchida Y, Sonoda S, Dai L, Yoshimaru K · 2026 · Pediatric surgery international

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1007/s00383-026-06620-2

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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. Triaging infantile cholestasis: Validation of non-invasive diagnostic modalities and a composite scoring system for early detection of biliary atresia.

    Lee YY, Chavan S, Bueno A, Ong EG · 2026 · Journal of pediatric surgery

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1016/j.jpedsurg.2026.163437

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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
  3. JAG1 c.1615C > T mutation impairs bile duct regeneration but not differentiation in hepatic organoids derived from a patient with Alagille syndrome.

    Wan Z, Zhang H, Zhang L, Cao X · 2026 · Stem cells translational medicine

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.1093/stcltm/szag073

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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
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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
  4. Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next-Generation Sequencing: Case Series of 70 Patients.

    Abdmouleh A, Jilani H, Rejeb I, Hizem S · 2026 · Clinical genetics

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1111/cge.70242

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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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    • not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
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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
  5. Beyond Heritable PAH: Pulmonary Hypertension in Genetic Syndromes.

    Grynblat J, Coulet F, Lacoste-Palasset T, Jais X · 2026 · The European respiratory journal

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.1183/13993003.00808-2026

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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
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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
  6. Phenotypic characteristics and clinical management of Alagille syndrome with multiple intracranial aneurysms: a case report and literature review.

    Wang Y, Sun Y, Yang Z, Chen J · 2026 · The Turkish journal of pediatrics

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.24953/turkjpediatr.2026.7715

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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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    • not scoredOpen access status: Not checked or no result supplied; no credibility inference made. Source: No authority result supplied; license: Unknown
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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. Genomic spectrum of congenital heart disease combined with kidney and urinary tract anomalies uncovered by exome sequencing and array-CGH.

    Zlotina A, Zhuk S, Kozyrev I, Sorokina M · 2026 · Frontiers in cell and developmental biology

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.3389/fcell.2026.1862793

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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
  8. Stratified Use of Genetic Testing in Liver Disease Improves Diagnostic Yield and Clinical Impact.

    Faini AC, Pinon M, Brach Del Prever GM, Romeo CM · 2026 · International journal of molecular sciences

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.3390/ijms27177906

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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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    • 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
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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. Indirect treatment comparison of odevixibat and maralixibat for the treatment of cholestatic pruritus in patients with Alagille syndrome.

    Kaltenbach E, Guiraud-Diawara A, Schwarzbard J, Artaud C · 2026 · Journal of comparative effectiveness research

    limited evidence Transparent signal score 43/100 · policy 1.0.0

    Found in pubmed · DOI 10.57264/cer-2026-0138

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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
  10. Adult-Onset Alagille Syndrome Presenting With Recurrent Cholestasis: A Rare Genetic Diagnosis Confirmed by Whole Exome Sequencing.

    Kolse SD, Deoke SA, Agrawal A, Domki K · 2026 · Cureus

    limited evidence Transparent signal score 45/100 · policy 1.0.0

    Found in pubmed · DOI 10.7759/cureus.114279

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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
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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