Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results

Expanded carrier screening for inherited genetic disease using exome and genome sequencing.

Journal of genetic counseling·2024

ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.

Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society·2024

AIDS and the heart: Review and consideration of pathogenetic mechanisms.

Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology·2015

Education and testing strategy for large-scale cystic fibrosis carrier screening.

Journal of genetic counseling·2013

AAV-based gene therapy prevents neuropathology and results in normal cognitive development in the hyperargininemic mouse.

Gene therapy·2013

The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA.

Clinical genetics·2012

Scalable, generalizable and uncertainty-aware integration of spatial multiomics across diverse modalities and platforms with SCIGMA.

Nature genetics·2026

Spatiotemporal lineage tracing reveals the dynamic spatial architecture of tumor growth and metastasis.

Nature genetics·2026

A single-cell atlas of multiple myeloma defines malignant archetypes and proliferative states.

Nature genetics·2026

Mechanisms and functional implications of long-range enhancer-dependent gene regulation.

Nature genetics·2026

A multiancestry polygenic risk score for Alzheimer's disease is associated with cognitive decline and neuropathological hallmarks in diverse populations.

Nature genetics·2026

Dissecting pleiotropy between major depressive disorder and physical disease comorbidities.

Nature genetics·2026

The Efficiency of Capillarys 2 Flex Piercing, Premier Resolution-HPLC, and VARIANT II-HPLC for Hemoglobin Constant Spring Detection.

Hemoglobin·2026

Case Report of Initial Manifestation of Hypogonadotropic Hypogonadism Based on Unoccluded Growth Plates in a 26-Year-Old Vietnamese Patient.

Cureus·2026

Clinical features of hereditary adrenocortical unresponsiveness to adrenocorticotropin (HAUA) in Japan: from a nationwide questionnaire based survey.

Endocrine journal·2026

Gastroduodenal Perforation Secondary to Heterotopic Pancreas in a Patient With Systemic Amyloidosis and End-Stage Renal Disease on Hemodialysis: A Case Report.

Cureus·2026

A Case of Convexity Meningioma Presenting With Acute Subdural Hematoma: A Case Report With a Pooled Analysis of 63 Reported Cases.

Cureus·2026

Hypothenar hammer syndrome: An expanded Kaji angiographic classification based on 91 cases.

Journal of plastic, reconstructive & aesthetic surgery : JPRAS·2026

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Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results

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Expanded carrier screening for inherited genetic disease using exome and genome sequencing.

ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals.

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AAV-based gene therapy prevents neuropathology and results in normal cognitive development in the hyperargininemic mouse.

The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA.

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Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results

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