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
Genetic Testing in Hypertrophic Cardiomyopathy: Expanding Global Representation While Refining Interpretation. [PDF]
Giugni FR.
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
Objetivo. - El presente trabajo académico tiene como objetivo describir un reporte de caso clínico de un abordaje quirúrgico para la mejora del fenotipo gingival mediante la técnica de colgajo pediculado reposicionado apicalmente. Materiales y métodos. -
Ramos Mendoza, Jorge Luis
core
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
Identificación de módulos asociados a fenotipos patológicos
Copy Number Variations (CNVs) are genomic structural variations frequently observed in healthy individuals, but can also lead to disease. They are the etiological cause of many rare genomic disorders that affect a large number of people in population, constituting a major public health problem.
openaire +1 more source
[Spinal muscular atrophy: Clinical and genetic aspects, and therapeutic alternatives]. [PDF]
González-Morales IJ +3 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
Escritura científica: del genotipo al fenotipo
La escritura científica se desarrolla en múltiples dimensiones, no solamente desde el punto de vista disciplinar, sino, además, desde la perspectiva de la forma de su comunicación propiamente dicha. En los comienzos fue la tinta impresa con pluma, plasmada en cartas intercambiadas entre los científi cos seguida de las denominadas actas científi cas ...
openaire +1 more source
Echocardiographic Reference Values: Why Brazil Needs to Speak With its Own Voice. [PDF]
Barbosa ICQ, Feitosa INA.
europepmc +1 more source

