Search Results - "Brunello, Franco G"
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Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report
Published in Frontiers in pediatrics (03-06-2022)“…Pubertal delay in males is frequently due to constitutional delay of growth and puberty, but pathologic hypogonadism should be considered. After general…”
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MotSASi: Functional short linear motifs (SLiMs) prediction based on genomic single nucleotide variants and structural data
Published in Biochimie (01-06-2022)“…Short linear motifs (SLiMs) are key to cell physiology mediating reversible protein-protein interactions. Precise identification of SLiMs remains a challenge,…”
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Diagnosis of Male Central Hypogonadism During Childhood
Published in Journal of the Endocrine Society (01-11-2021)“…Abstract The diagnosis of male central (or hypogonadotropic) hypogonadism, typically based on low luteinizing hormone (LH) and testosterone levels, is…”
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