Beyond Cholesterol and Triglycerides in the Lipid Clinic: The Challenging Task of Identifying Lysosomal Acid Lipase Deficiency. [PDF]
Mizuta MH, Santos RD.
europepmc +1 more source
Phenotype of autosomal dominant Alport syndrome with a likely pathogenic heterozygous variant in the COL4A3 gene (Gly366Arg) and incidental teratozoospermia: A case report. [PDF]
Martín Moreno V +5 more
europepmc +1 more source
Clinical characteristics of Parkinson's disease in the outpatient clinic of a regional hospital in Peru. [PDF]
Centeno-Arispe JJ +4 more
europepmc +1 more source
[Dilated cardiomyopathy and conduction disorder due to <i>TNNI3K</i> mutation]. [PDF]
Gayán-Ordás J +5 more
europepmc +1 more source
Clinical and immunological features of specific antibody deficiency in a pediatric hospital in Colombia [PDF]
Castaño-Jaramillo LM +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
Variante no descrita previamente en el gen COL3A1: causalidad del Síndrome de Ehlers-Danlos tipo Vascular. [PDF]
Gutiérrez Romero E +2 more
europepmc +1 more source
Genetic Testing in Hypertrophic Cardiomyopathy: Expanding Global Representation While Refining Interpretation. [PDF]
Giugni FR.
europepmc +1 more source
[Rh blood group: Review and importance of genotyping]. [PDF]
Campos-Aguirre E +3 more
europepmc +1 more source

