The Frequency of Inherited Disorders Database

Relationship between olfactory function and quality of life in COVID-19 patients.

Rhinology·2026

Persisting chemosensory dysfunction in COVID-19 - a cross-sectional population-based survey.

Rhinology·2022

Long-term health sequelae and quality of life at least 6 months after infection with SARS-CoV-2: design and rationale of the COVIDOM-study as part of the NAPKON population-based cohort platform (POP).

Infection·2021

Serum metabolomic profiling highlights pathways associated with liver fat content in a general population sample.

European journal of clinical nutrition·2017

Five years of experience with the FiLaC™ laser for fistula-in-ano management: long-term follow-up from a single institution.

Techniques in coloproctology·2017

DNA Commission of the International Society for Forensic Genetics: Recommendations on the validation of software programs performing biostatistical calculations for forensic genetics applications.

Forensic science international. Genetics·2016

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

Human genetics·2026

Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project.

Human genetics·2026

A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome.

Human genetics·2026

Blending borders: reconstructing the genetic history of the Sindhi population.

Human genetics·2026

Within-sibling attenuation of polygenic risk score accuracy: investigating the effects of principal component analysis, LD score regression, and mixed model association in the UK Biobank.

Human genetics·2026

Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism.

Human genetics·2026

Unlocking the Hidden Value of Evaluation Reports: A Semi-Automated Workflow to Inform Strategic Planning and Monitoring of SDG Progress Within UNICEF.

Campbell systematic reviews·2026

Towards reliable Spanish clinical text de-identification through comparative evaluation of language model approaches.

Journal of biomedical semantics·2026

Automated indexing in MEDLINE and the Medical Text Indexer (MTI), 2000-2025: a scoping review.

Journal of the Medical Library Association : JMLA·2026

[Scientific output of the Revista Médica del IMSS in PubMed (2005-2025): a bibliometric analysis].

Revista medica del Instituto Mexicano del Seguro Social·2026

The Association Between Transfer Note Documentation and Appropriateness of Interhospital Transfer: A Pilot Study.

Journal of patient safety·2026

Context-Aware Filtering of Unstructured Radiology Reports by Anatomical Region.

Proceedings of machine learning research·2026

Related Experiment Videos

The Frequency of Inherited Disorders Database

Related Concept Videos

Relationship between olfactory function and quality of life in COVID-19 patients.

Persisting chemosensory dysfunction in COVID-19 - a cross-sectional population-based survey.

Long-term health sequelae and quality of life at least 6 months after infection with SARS-CoV-2: design and rationale of the COVIDOM-study as part of the NAPKON population-based cohort platform (POP).

Serum metabolomic profiling highlights pathways associated with liver fat content in a general population sample.

Five years of experience with the FiLaC™ laser for fistula-in-ano management: long-term follow-up from a single institution.

DNA Commission of the International Society for Forensic Genetics: Recommendations on the validation of software programs performing biostatistical calculations for forensic genetics applications.

The NeuroWES project: lessons learned from comprehensive phenotyping and genetic analysis of neurodevelopmental disorders over a decade.

Implementation of exome sequencing for rare undiagnosed diseases in LMICs: the G2MC rare diseases exome sequencing pilot project.

A novel pathogenic synonymous DHCR7 variant unveiled by aberrant splicing in Smith-Lemli-Opitz syndrome.

Blending borders: reconstructing the genetic history of the Sindhi population.

Within-sibling attenuation of polygenic risk score accuracy: investigating the effects of principal component analysis, LD score regression, and mixed model association in the UK Biobank.

Long-read genome sequencing resolves a de novo complex 18q12.1q21.2 triplication causing partial tetrasomy and reveals its underlying mechanism.

Unlocking the Hidden Value of Evaluation Reports: A Semi-Automated Workflow to Inform Strategic Planning and Monitoring of SDG Progress Within UNICEF.

Towards reliable Spanish clinical text de-identification through comparative evaluation of language model approaches.

Automated indexing in MEDLINE and the Medical Text Indexer (MTI), 2000-2025: a scoping review.

[Scientific output of the Revista Médica del IMSS in PubMed (2005-2025): a bibliometric analysis].

The Association Between Transfer Note Documentation and Appropriateness of Interhospital Transfer: A Pilot Study.

Context-Aware Filtering of Unstructured Radiology Reports by Anatomical Region.

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The Frequency of Inherited Disorders Database

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