Associated Papers
Next-generation sequencing and analysis of consecutive patients referred for connective tissue disorders.
Steinle J et al.
American Journal of Medical Genetics. Part A, 2022
Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study.
Veatch OJ et al.
Bmc Medical Genomics, 2022
Clinical severity prediction in children with osteogenesis imperfecta caused by COL1A1/2 defects.
Yang L et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2022
35044492 (PubMed )
Supplement: 198_2021_6263_MOESM3_ESM.xlsx › COL1A2_HGMD_data
Evolutionary Genetic Signatures of Selection on Bone-Related Variation within Human and Chimpanzee Populations.
Stover DA et al.
Genes, 2022
35205228 (PubMed )
Supplement: genes-13-00183-s001.zip › Stover_et_al_GENES_COL1A1_Supp_Tables_S1-S18_final.xlsx › Table_S2._DAMs
COL1A1 and COL1A2 sequencing results in cohort of patients undergoing evaluation for potential child abuse.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2016
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