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Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).
limited evidence
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- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredOpen access status: Not checked or no result supplied; no credibility inference made.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
De Novo Truncating Variants in ZNF865 Cause a Novel Neurodevelopmental Disorder.
limited evidence
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- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- supportingOpen access status: Normalized open-access status: open.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.
limited evidence
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- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- supportingOpen access status: Normalized open-access status: open.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
limited evidence
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- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- supportingOpen access status: Normalized open-access status: open.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Vaginal-operative Birth: Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/023, 11/2023).
limited evidence
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- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- supportingOpen access status: Normalized open-access status: open.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Early Pregnancy Loss in the 1st Trimester: Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry No. 015/076; August 2024).
limited evidence
Show all credibility signals
- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- supportingOpen access status: Normalized open-access status: open.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Shoulder Dystocia. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry No. 015/098, 10/2024).
limited evidence
Show all credibility signals
- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- supportingOpen access status: Normalized open-access status: open.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
[Omodysplasia Type II - first publication of de novo Mutation in FZD2 Gene].
limited evidence
Show all credibility signals
- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredOpen access status: Not checked or no result supplied; no credibility inference made.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.
Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.
limited evidence
Show all credibility signals
- cautionDOI registered: No matching Crossref record was present in this response.
- cautionDOI resolves: No matching Crossref record was present in this response.
- not scoredDirectory of Open Access Journals: No matching DOAJ record was present in this response. No allow-list match; this is not evidence of low credibility.
- not scoredMEDLINE indexed: Not checked or no result supplied; no credibility inference made.
- not scoredOpenAlex core source: Not checked or no result supplied; no credibility inference made.
- not scoredKnown publisher allow-list: Not checked or no result supplied; no credibility inference made.
- not scoredROR affiliation: Not checked or no result supplied; no credibility inference made.
- not scoredRetraction Watch retraction: No retraction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch expression of concern: No expression of concern notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch correction: No correction notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- not scoredRetraction Watch reinstatement: No reinstatement notice matched this DOI in the deployed snapshot. No matching event found; coverage may be incomplete.
- supportingOpen access status: Normalized open-access status: open.
- not scoredPublication license: Not checked or no result supplied; no credibility inference made.
- not scoredPublication version: A publication version was supplied but is not scored.
- cautionMetadata completeness: 5 of 6 scored descriptive metadata groups are present; missing fields increase uncertainty.