First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser) [PDF]
Cerón SM +3 more
europepmc +1 more source
Métodos experimentales para el estudio de los genomas [PDF]
González-Siso, María-Isabel +1 more
core
[Doctor, I have a lump on the palate]. [PDF]
Mozo Puebla MÁ, Morales Puebla JM.
europepmc +1 more source
El enigmático cromosoma de los Dinoflagelados
Trabajo presentado en el III Seminario de Citogenética, celebrado en Granada (España) del 30 de Junio al 3 de Julio de 2003.
openaire +1 more source
[Dilated cardiomyopathy and conduction disorder due to <i>TNNI3K</i> mutation]. [PDF]
Gayán-Ordás J +5 more
europepmc +1 more source
Adult-onset cerebral X-linked adrenoleukodystrophy presenting with frontal lobe syndrome caused by a de novo <i>ABCD1</i> gene mutation (c.1415_1416delAG, p.Gln472fs*83). [PDF]
Ghosh R +4 more
europepmc +1 more source
Papel de los cromosomas b en la evolución de los sistemas genéticos eucarióticos [PDF]
Camacho, Juan Pedro M.
core
[Diaphragmatic Paralysis in Parsonage-Turner syndrome: beyond brachial neuralgia] [PDF]
Zelaya de Leon N +3 more
europepmc +1 more source
[Hepatic encephalopathy from cholangitis in a young patient with ornithine transcarbamylase mutation]. [PDF]
Rojas-Salazar YL +2 more
europepmc +1 more source

