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BMC Medical Genomics|May 3, 2025
Genetic analysis of three patients from two unrelated Chinese families with autosomal recessive spastic ataxia of Charlevoix-SaguenayHui Liu, Ranran Li, Chen Chen, et al.
BMC Medical Genomics|April 1, 2025
Methylation patterns of the nasal epigenome of hospitalized SARS-CoV-2 positive patients reveal insights into molecular mechanisms of COVID-19Benjamin L Spector, Boryana Koseva, Rebecca McLennan, et al.
BMC Medical Genomics|June 2, 2025
MDA5 variants trade antiviral activity for protection from autoimmune diseaseChris Wallace, Rahul Singh, Yorgo Modis
BMC Medical Genomics|May 26, 2025
A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1Joseph Farris, Camila Dergam-Larson, Madeline Lopour, et al.
BMC Medical Genomics|February 17, 2026
A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndromeYue Wang, Qiu Wang, Lijie Guan, et al.
BMC Medical Genomics|August 21, 2025
CCDC82 and neurodevelopment: a novel genetic variant linked to infantile spasms and hypotoniaZahra Safarian, Shiva Mehrabi, Arghavan Rakhshani Nejad, et al.
BMC Medical Genomics|January 31, 2026
Cardiovascular-kidney-metabolic syndrome: candidate subtypes and genetic risk factorsHylke C Donker, Vartika Bisht, Om Prakash Dwivedi, et al.
BMC Medical Genomics|March 21, 2025
A comprehensive integration of data on the association of ITPKC polymorphisms with susceptibility to Kawasaki disease: a meta-analysisAtefeh Habibi, Hanieh Talebi, Reza Bahrami, et al.
BMC Medical Genomics|March 20, 2025
Study on the mechanism of BGN in progression and metastasis of ccRCCHanqing Xia, Tianzhen He, Xueyu Li, et al.
BMC Medical Genomics|April 12, 2013
Analysis of a gene co-expression network establishes robust association between Col5a2 and ischemic heart diseaseFrancisco Azuaje, Lu Zhang, Céline Jeanty, et al.
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