Análisis clínicos
Especialidad
Massachusetts General Hospital
Boston, Estados UnidosPublikationen in Zusammenarbeit mit Forschern von Massachusetts General Hospital (8)
2023
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A second update on mapping the human genetic architecture of COVID-19
Nature
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Erratum to: Mapping the human genetic architecture of COVID-19 (Nature, (2021), 600, 7889, (472-477), 10.1038/s41586-021-03767-x)
Nature
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Recombinant growth hormone improves growth and adult height in patients with maternal inactivating GNAS mutations
European journal of endocrinology, Vol. 189, Núm. 1, pp. 123-131
2022
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Detailed stratified GWAS analysis for severe COVID-19 in four European populations
Human Molecular Genetics, Vol. 31, Núm. 23, pp. 3945-3966
2021
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Mapping the human genetic architecture of COVID-19
Nature, Vol. 600, Núm. 7889, pp. 472-477
2020
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Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients
Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196
2018
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Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement
Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500
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Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity
Journal of Bone and Mineral Research, Vol. 33, Núm. 8, pp. 1480-1488