Results 101 to 110 of about 8,503 (147)

Clinical and genetic description of patients with chronic granulomatous disease in a pediatric hospital [PDF]

Biomedica
Berriozábal-Villarruel X, Godínez-Zamora GF, Baeza-Capetillo P, Pérez-Blanco U, Espinosa-Padilla SE, Aguirre-Hernández J, Blancas-Galicia L, Saucedo-Ramírez OJ.   +7 more
europepmc   +1 more source

Uso de inteligencia artificial en la predisposición genética a enfermedad crítica por COVID-19: evaluación comparativa de modelos de aprendizaje automático. [PDF]

Adv Lab Med
Martin Perez S, Sanchez Jimenez F, Fuentes Cantero S, Jímenez Barragan M, Sanchez Mora C, Borreguero Leon JM, Arrobas Velilla T, Valido Morales A, Delgado Torralbo JA, León-Justel A.   +9 more
europepmc   +1 more source

[A case report of severe hypocalcemia secondary to Fahr's syndrome]. [PDF]

An Sist Sanit Navar
Vallejo Ruiz M, Moral Presa I.
europepmc   +1 more source

First report of PURA syndrome in a Colombian patient with de novo missense variant c.692T>C (p.Phe231Ser) [PDF]

Biomedica
Cerón SM, Pérez DA, Montaño JH, Acosta MA.   +3 more
europepmc   +1 more source

[Doctor, I have a lump on the palate]. [PDF]

Aten Primaria
Mozo Puebla MÁ, Morales Puebla JM.
europepmc   +1 more source

[Dilated cardiomyopathy and conduction disorder due to <i>TNNI3K</i> mutation]. [PDF]

Arch Cardiol Mex
Gayán-Ordás J, Valverde-Gómez M, Bascompte-Claret R, Sánchez-Flores M, López-Ortega R, Pablo-Ochoa 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]

Neurol Perspect
Ghosh R, León-Ruiz M, Jana A, Dubey S, Benito-León J.   +4 more
europepmc   +1 more source

Second part. [PDF]

Biomedica
Zea-Vera AF, Fernandes-Pineda M.
europepmc   +1 more source

[Diaphragmatic Paralysis in Parsonage-Turner syndrome: beyond brachial neuralgia] [PDF]

Rev Fac Cien Med Univ Nac Cordoba
Zelaya de Leon N, Perri M, Almeida Souto M, Borsini E.   +3 more
europepmc   +1 more source

Memorias del XXXIV Congreso Anual de la Sociedad Mexicana de Neurología Pediátrica A.C. [PDF]

Rev Neurol
europepmc   +1 more source