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
SETD5 loss-of-function mutation as a likely cause of a familial syndromic intellectual disability with variable phenotypic expression.
Szczałuba K et al.
American Journal of Medical Genetics. Part A, 2016
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