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Rigshospitalet - a part of Copenhagen University Hospital
Published

Klinefelter Syndrome Comorbidities Linked to Increased X Chromosome Gene Dosage and Altered Protein Interactome Activity

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  1. Functional Assessment of Variants Associated with Wolfram Syndrome

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  2. PAICS deficiency, a new defect of de novo purine synthesis resulting in multiple congenital anomalies and fatal outcome

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  3. Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

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  4. Increased expression of microRNA-15a and microRNA-15b in skeletal muscle from adult offspring of women with diabetes in pregnancy

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  1. Increases in bioactive IGF do not parallel increases in total IGF-I during growth hormone treatment of children born SGA

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  2. Measurement of peripheral arterial tonometry in patients with diabetic foot ulcers during courses of hyperbaric oxygen treatment

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  3. A Polygenic Risk Score Suggests Shared Genetic Architecture of Voice Break With Early Markers of Pubertal Onset in Boys

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  4. Sex-specific estrogen levels and reference intervals from infancy to late adulthood determined by LC-MS/MS

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  5. The External Genitalia Score (EGS): A European multicenter validation study

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Original languageEnglish
Article numberdoi: 10.1093/hmg/ddx014
JournalHuman Molecular Genetics
Volume26
Issue number7
Pages (from-to)1219-1229
ISSN0964-6906
Publication statusPublished - 2017

ID: 49513333