Associated Papers
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Identification and In Vitro Functional Verification of Two Novel Mutations of GHR Gene in the Chinese Children with Laron Syndrome.
Li R et al.
Frontiers in Endocrinology, 2021
33912130 (PubMed )
Supplement: Table_1.docx
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20
Height-reducing variants and selection for short stature in Sardinia.
Zoledziewska M et al.
Nature Genetics, 2015
26366551 (PubMed )
Supplement: NIHMS64788-supplement-2.docx
Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity.
David A et al.
Endocrine Reviews, 2011
Genetic characterization of growth hormone deficiency and resistance: implications for treatment with recombinant growth hormone.
Baumann G
American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice, 2002
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