Associated Papers
Reproductive Phenotypes and Genotypes in Men With IHH.
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The Journal of Clinical Endocrinology and Metabolism, 2023
Reversible hypogonadotropic hypogonadism in men with the fertile eunuch/Pasqualini syndrome: A single-center natural history study.
Dwyer AA et al.
Frontiers in Endocrinology, 2022
36407308 (PubMed )
Supplement: Table_1.docx
Whole exome sequencing identifies deleterious rare variants in CCDC141 in familial self-limited delayed puberty.
Saengkaew T et al.
Npj Genomic Medicine, 2021
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
33652732 (PubMed )
Supplement: jcm-10-00914-s001.zip › jcm-1102563-supplementary.xlsx › Variants_after_filtering
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