Pediatría
Departamento
Yale School of Medicine
New Haven, Estados UnidosPublicaciones en colaboración con investigadoras/es de Yale School of Medicine (8)
2021
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Exposure and confidence across critical airway procedures in pediatric emergency medicine: An international survey study
American Journal of Emergency Medicine, Vol. 42, pp. 70-77
2019
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Preferred learning modalities and practice for critical skills: A global survey of paediatric emergency medicine clinicians
Emergency Medicine Journal, Vol. 36, Núm. 5, pp. 273-280
2006
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Autosomal dominant pseudohypoaldosteronism type 1: Mechanisms, evidence for neonatal lethality, and phenotypic expression in adults
Journal of the American Society of Nephrology, Vol. 17, Núm. 5, pp. 1429-1436
1999
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Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness
Nature Genetics, Vol. 21, Núm. 1, pp. 84-90
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Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption
Science, Vol. 285, Núm. 5424, pp. 103-106
1998
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Mutations in the mineralocorticoid receptor gene cause autosomal dominant pseudohypoaldosteronism type I
Nature Genetics, Vol. 19, Núm. 3, pp. 279-281
1997
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Mutations in the chloride channel gene, CLCNKB, cause Bartter's syndrome type III
Nature Genetics, Vol. 17, Núm. 2, pp. 171-178
1996
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Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK
Nature Genetics, Vol. 14, Núm. 2, pp. 152-156