14 research outputs found
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders
Full text linkRapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
No full textEfficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience
No full textMedium‐chain acyl‐coenzyme A dehydrogenase deficiency: Six cases in the Chinese population
No full textAssociations between the adherence to the Mediterranean diet and cardiorespiratory fitness with total and central obesity in preschool children: the PREFIT project
No full textDiagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey
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Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data
No full textPerceived effective and feasible strategies to promote healthy eating in young children: focus groups with parents, family child care providers and daycare assistants
No full textGender Differences in Electrophysiological Gene Expression in Failing and Non-Failing Human Hearts
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