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12 results on '"Priestley JRC"'

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1. PhenoID, a language model normalizer of physical examinations from genetics clinical notes.

2. Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.

3. Unmasking the challenges of Kabuki syndrome in adulthood: A case series.

4. Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.

5. Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.

6. Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania.

9. The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.

10. NRF2 activation with Protandim attenuates salt-induced vascular dysfunction and microvascular rarefaction.

11. Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships.

12. Evaluation of Vascular Control Mechanisms Utilizing Video Microscopy of Isolated Resistance Arteries of Rats.

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