Associated Papers
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1
Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.
Torrezan GT et al.
Frontiers in Genetics, 2018
29868112 (PubMed )
Supplement: Table_1.DOCX
Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.
Zhang Z et al.
Scientific Reports, 2017
Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement.
Guerreiro RJ et al.
Jama Neurology, 2013
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