17 results on '"McBride, Kim L."'
Search Results
2. Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
3. Germline Variant Interpretation in Children with Severe Sepsis
4. Treatment of mucopolysaccharidosis type II (Hunter syndrome): a Delphi derived practice resource of the American College of Medical Genetics and Genomics (ACMG)
5. POLRMT mutations impair mitochondrial transcription causing neurological disease
6. A pediatric perspective on genomics and prevention in the twenty-first century
7. Reclassification of Variants of Uncertain Significance in Children with Inherited Arrhythmia Syndromes is Predicted by Clinical Factors
8. Expansion of B4GALT7 linkeropathy phenotype to include perinatal lethal skeletal dysplasia
9. Phenylalanine and tyrosine measurements across gestation by tandem mass spectrometer on dried blood spot cards from normal pregnant women
10. Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
11. Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
12. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome
13. Abnormal Longitudinal Growth of the Aorta in Children with Familial Bicuspid Aortic Valve
14. Parental Knowledge and Attitudes Toward Hypertrophic Cardiomyopathy Genetic Testing
15. Acute Dilated Cardiomyopathy in a Patient with Deficiency of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase
16. Renal anomalies in family members of infants with bilateral renal agenesis/adysplasia
17. Pediatric Sub-specialist Controversies in the Treatment of Congenital Heart Disease in Trisomy 13 or 18
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