Diagnostic networks for IEM in Brazil: report on 10 years of activity of the LSD Brazil Network, helping Brazil and Latin America to identify patients with lysosomal storage diseases. [PDF]
J Community GenetTrapp FB +21 more
europepmc +1 more source
Microbiología sanitaria y clínica. Rafael Rotger Anglada (ed) [PDF]
, 2010 Isabel Esteve
core +5 more sources
The Broad Clinical Spectrum of Metatropic Dysplasia: A Case Series and Literature Review. [PDF]
Int J Mol SciRobles-Espinoza K +3 more
europepmc +1 more source
A novel missense variant of the calcium-sensing receptor gene associated with familial hypocalciuric hypercalcemia. [PDF]
JBMR PlusLaganà M +7 more
europepmc +1 more source
Genetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis. [PDF]
Int J Mol SciOgnibene M +11 more
europepmc +1 more source
Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report. [PDF]
Mol Syndromolde Freitas Netto F +4 more
europepmc +1 more source
[Comment on the article: "Cognition in pediatric patients with diagnosis of epilepsy"]. [PDF]
Rev Med Inst Mex Seguro SocDorantes-López R.
europepmc +1 more source