Categoría: Orphanet Journal of Rare Diseases
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Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires
Background Methods Results Conclusion …
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Eating behaviour phenotype in the MYT1L-related neurodevelopmental disorder: a deep phenotyping study using standardized questionnaires
Background Methods Results Conclusion …
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Unraveling the role of lipid metabolism in ALS risk: a Mendelian randomization analysis using GWAS data
Background Objective Methods Results …
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Estimation of the genetic susceptibility prevalence of primary ciliary dyskinesia via the gnomAD v4.1.0 database
Background Methods Results Conclusion …
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Sexual and reproductive life in adolescents and young adults with phenylketonuria: a cross-sectional study
Background Methods Results Conclusions …
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Sexual and reproductive life in adolescents and young adults with phenylketonuria: a cross-sectional study
Background Methods Results Conclusions …
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Unraveling the role of lipid metabolism in ALS risk: a Mendelian randomization analysis using GWAS data
Background Objective Methods Results …
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Estimation of the genetic susceptibility prevalence of primary ciliary dyskinesia via the gnomAD v4.1.0 database
Background Methods Results Conclusion …
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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 …