Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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Material Type: Report
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Vascular Ehlers-Danlos syndrome: A null COL3A1 variant found in a patient with loin pain without marked cutaneous features (case report)Subramaniam, Shreenidhi Ranganatha ; Yeung, Lam Fung ; Choy, L Y Lois ; Kwok, Jeffrey Sung ShingClinical case reports, 2024, Vol.12 (2), p.e8517-e8517Texto completo disponível |
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2 |
Material Type: Report
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A fatal case of COQ7-associated primary coenzyme Q10 deficiencyKwong, Anna K-Y ; Chiu, Annie T-G ; Tsang, Mandy H-Y ; Lun, Kin-Shing ; Rodenburg, Richard J T ; Smeitink, Jan ; Chung, Brian H-Y ; Fung, Cheuk-WingJIMD reports, 2019, Vol.47 (1), p.23-29Texto completo disponível |