ROHHAD syndrome in an adult: presence of ZSCAN1 antibodies. [PDF]
Ortega-González Á +8 more
europepmc +1 more source
Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia. [PDF]
Tejero E +5 more
europepmc +1 more source
Excessive glycosylation drives thoracic aortic aneurysm formation through integrated stress response. [PDF]
Rochano-Ortiz A +27 more
europepmc +1 more source
Multidisciplinary Management Enables Safe Return to Sports in a Pediatric Sudden Cardiac Death Survivor. [PDF]
Greco A +9 more
europepmc +1 more source
SynaptopathyDB integrates synaptic proteomes, genetic and phenotypic data to advance research on nervous system disorders. [PDF]
Sorokina O +4 more
europepmc +1 more source
Resilience in motion: emerging perspectives on stress, substance use and youth. [PDF]
Sampedro-Piquero P.
europepmc +1 more source
Down Syndrome and Obesity Management: Lifestyle Observations Made in the Framework of the GO-DS21 Project and Clinical Recommendations. [PDF]
Gomis-González M +6 more
europepmc +1 more source
Enfermedades Raras y Hemofilia: Un nuevo reto para Enfermería enfermedades raras
openaire +1 more source

