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Archivos Argentinos De Pediatria|May 30, 2020
[Osteoporosis-pseudoglioma Syndrome: a pediatric case of primary osteoporosis]Débora Braslavsky, Paula Scaglia, Nora Sanguineti, et al.
Cancers|August 12, 2022
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic VariantsLeila Cabral de Almeida Cardoso, Alejandro Parra, Cristina Ríos Gil, et al.
Advanced Genetics (Hoboken, N.J.)|December 30, 2024
Extreme Phenotypic Variability of ACTG1-Related Disorders in Hearing LossMaria T Bernardi, Memoona Ramzan, Laura Calderon, et al.
Archivos Argentinos De Pediatria|March 22, 2021
New recommendations for the care of patients with mucopolysaccharidosis type ILuisa Bay, Hernán Amartino, Alejandra Antacle, et al.
Archivos Argentinos De Pediatria|May 25, 2021
A few challenges in mucopolysaccharidosis type ILuisa Bay, Hernán Amartino, Alejandra Antacle, et al.
European Journal of Endocrinology|September 21, 2019
A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiencyAna Claudia Keselman, Ayelen Martin, Paula Alejandra Scaglia, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2024
Microduplications of ARID1A and ARID1B cause a novel clinical and epigenetic distinct BAFopathyPleuntje J van der Sluijs, Sébastien Moutton, Alexander J M Dingemans, et al.
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