[Mitochondrial diabetes: From suspicion in primary care to a multidisciplinary family approach]. [PDF]
Macías Martínez BA +3 more
europepmc +1 more source
PRKAG2 Cardiomyopathy: A Case-Control Study on the Diagnostic Yield Of Histopathology and Ultrastructural Analysis from Endomyocardial Biopsy. [PDF]
Honorato-Sampaio K +11 more
europepmc +1 more source
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
FENOTIPO CINTURA HIPERTRIGLICERIDÉMICA Y ALTERACIONES
openaire +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
Identidades sociales vinculadas al fenotipo
The central question raised in the present research points to the representation and consequences of the use of categories related to social identities in Colombia. From a comparative context of transnational realities, one takes into account the positioning of a group of Colombian migrants in the city of Barcelona in front of dynamics in which the ...
openaire +1 more source
Genetic Testing in Hypertrophic Cardiomyopathy: Expanding Global Representation While Refining Interpretation. [PDF]
Giugni FR.
europepmc +1 more source
[Spinal muscular atrophy: Clinical and genetic aspects, and therapeutic alternatives]. [PDF]
González-Morales IJ +3 more
europepmc +1 more source

