On the website of the Spanish Association of Pediatric Palliative Care, they have intervention protocols and clinical practice guidelines.
Category archives: Clinical guide
Genetic technologies:
What are the different genetic technologies used for? What type of mutations is each technique capable of detecting?
STR (short tandem repeat) disorders.
Karyotype in the era of the aCGH:
Indications in which the karyotype remains superior to molecular diagnostic techniques:
Notable mutations!
Notable Mutations Database Este recurso proporciona un registro actualizado de las variantes patogénicas y mutaciones genéticas que presentan un impacto clínico relevante o interés científico destacado en neuropediatría y genética del neurodesarrollo. Incluye anotaciones detalladas sobre variantes en canales iónicos (SCN1A, KCNQ2) y transportadores neuronales con correlación fenotípica directa.
Disfemia-stuttering.
Website of the Spanish Stuttering Foundation with specific resources for the pediatric age group.
Springer video atlas of movement disorders.
Click on the icon in the right corner to access one of the 97 posted videos.
