22 results on '"Sutton V"'
Search Results
2. Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy
3. Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis
4. Risk categorization for oversight of laboratory-developed tests for inherited conditions: an updated position statement of the American College of Medical Genetics and Genomics (ACMG)
5. Mobility in osteogenesis imperfecta: a multicenter North American study
6. Insights into genetics, human biology and disease gleaned from family based genomic studies
7. Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study
8. Interchromosomal template-switching as a novel molecular mechanism for imprinting perturbations associated with Temple syndrome
9. Assessing disease experience across the life span for individuals with osteogenesis imperfecta: challenges and opportunities for patient-reported outcomes (PROs) measurement: a pilot study
10. Nineteen-year follow-up of a patient with severe glutathione synthetase deficiency
11. Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
12. Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1
13. Next-generation sequencing for disorders of low and high bone mineral density
14. Non-random X chromosome inactivation in Aicardi syndrome
15. Allele-specific methylation of a functional CTCF binding site upstream of MEG3 in the human imprinted domain of 14q32
16. Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12)
17. The Spanish version of the Child Health and Illness Profile-Adolescent Edition (CHIP-AETM)
18. Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
19. 3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
20. Regional localization of the mouse argininosuccinate lyase gene to Chromosome 5
21. Expression of Qa alloantigens on peripheral T cells: The relationship of the Qa-m2, 7, 8, 9 specificities
22. Mapping of the MouseLy-6, Xp-14, andGdc-1 loci to chromosome 15
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