Análisis clínicos
Specialty
Universidad Autónoma de Madrid
Madrid, EspañaPublications in collaboration with researchers from Universidad Autónoma de Madrid (9)
2023
-
A second update on mapping the human genetic architecture of COVID-19
Nature
-
Growth patterns and outcomes of growth hormone therapy in patients with acrodysostosis
Journal of Endocrinological Investigation, Vol. 46, Núm. 8, pp. 1673-1684
2020
-
Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants
The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8
-
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
2019
-
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561
-
Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”
Movement Disorders
2018
-
Brachydactyly type C due to a nonsense mutation in the GDF5 gene
Anales de Pediatria, Vol. 88, Núm. 2, pp. 107-109
-
Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement
Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500
2015
-
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients
Journal of Medical Genetics, Vol. 52, Núm. 10, pp. 647-656