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UnknownThe expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype.
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S-EPMC5070901 | biostudies-literature
UnknownAssessing differential item functioning for the Social Appearance Anxiety Scale: a Scleroderma atient-centred Intervention Network (SPIN) Cohort Study.
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S-EPMC7552836 | biostudies-literature
UnknownFactors associated with patient-reported likelihood of using online self-care interventions: a Scleroderma Patient-centered Intervention Network (SPIN) cohort study.
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S-EPMC6797412 | biostudies-literature
UnknownGenome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study.
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S-EPMC12495801 | biostudies-literature
Unknown<i>PFMG2025</i>-integrating genomic medicine into the national healthcare system in France.
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S-EPMC11910791 | biostudies-literature
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