Associated Papers
Genetics of GH Deficiency: Insights From a Cohort of 203 Patients.
Ribeiro AC et al.
The Journal of Clinical Endocrinology and Metabolism, 2026
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_MOESM2_ESM.xlsx › COL1A1_HGMD_data
Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).
Nadyrshina D et al.
Genes, 2022
35052464 (PubMed )
Supplement: genes-13-00124-s001.zip › genes-1527056_supplementary.pdf
Combined exome sequencing and deep phenotyping in highly selected fetuses with skeletal dysplasia during the first and second trimesters improves diagnostic yield.
Zhang X et al.
Prenatal Diagnosis, 2021
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