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A 785kb deletion of 3p14.1p13, including the FOXP1 gene, associated with speech delay, contractures, hypertonia and blepharophimosis

artículo científico publicado en 2009

Clinically impactful differences in variant interpretation between clinicians and testing laboratories: a single-center experience

artículo científico publicado en 2017

Connective tissue spectrum abnormalities associated with spontaneous cerebrospinal fluid leaks: a prospective study

artículo científico publicado en 2012

Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.

artículo científico publicado en 2012

Echocardiographic findings in patients with spontaneous CSF leak

artículo científico publicado en 2014

Finding missed cases of familial hypercholesterolemia in health systems using machine learning

scientific article published on 11 April 2019

Genetic screening in the Persian Jewish community: A pilot study

artículo científico publicado en 2010

Genetics and Precision Medicine: Heritable Thoracic Aortic Disease

scientific article published on 31 August 2019

Quantitative proteomics reveal lineage-specific protein profiles in iPSC-derived Marfan syndrome smooth muscle cells

artículo científico publicado en 2020

Understanding variants of uncertain significance in the era of multigene panels: Through the eyes of the patient

scientific article published on 03 May 2019

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

artículo científico publicado en 2012

Visceroptosis of the bowel in the hypermobility type of Ehlers-Danlos syndrome: presentation of a rare manifestation and review of the literature

artículo científico publicado en 2012

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