Categoría: Orphanet Journal of Rare Diseases
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Persistently low serum alkaline phosphatase in adults: prevalence and clinical characteristics in a large tertiary care hospital
Background Methods Results Conclusion …
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Clinical and genetic analysis of patients with Sjögren-Larsson syndrome in China
Objective Methods Results Conclusion …
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Clinical and genetic analysis of patients with Sjögren-Larsson syndrome in China
Objective Methods Results Conclusion …
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Temperature-sensitive auditory neuropathy: long-term follow-up and genotypic correlation
Background Methods Results Conclusions …
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Diagnostic delay, misdiagnosis, and patient-reported psychosocial burden among Chinese individuals with McCune–Albright syndrome: a national cross-sectional survey
Background Methods Results Conclusions …