Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement. [PDF]
Ribeiro GNP +7 more
europepmc +1 more source
['Wait and see' in paediatric epilepsy. Our experience]. [PDF]
Salinas-Salvador B +5 more
europepmc +1 more source
[Oral rehabilitation in Sotos syndrome: case report and scoping review of the literature]. [PDF]
Trabucco V, Stuardo-Parada A, Leiva C.
europepmc +1 more source
First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser) [PDF]
Cerón SM +3 more
europepmc +1 more source
[Applicability of the London Classification to Characterize Defecation Disorders: a Retrospective Study in a Tertiary Care Center in Argentina]. [PDF]
Santana M +7 more
europepmc +1 more source
[McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance]. [PDF]
Vidal-Sanahuja R +3 more
europepmc +1 more source
Factors associated with breastfeeding in infants with trisomy 21. [PDF]
Campos LM +3 more
europepmc +1 more source
[Clinical and genetic characterisation of hereditary distal myopathies in a series of Colombian patients]. [PDF]
Oliveros-Acuña N +5 more
europepmc +1 more source
Association between the habitual lip and tongue posture, clinical characteristics, and sleep-related problems in infants with Trisomy 21. [PDF]
Rezende GMG +7 more
europepmc +1 more source
[Spinal Muscular Atrophy: The Reality of the Adult Patient in Spain]. [PDF]
Cattinari MG +3 more
europepmc +1 more source

