Results 121 to 130 of about 993 (187)

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

Fragile X Syndrome in children. [PDF]

Colomb Med (Cali), 2023
Acero-Garcés DO, Saldarriaga W, Cabal-Herrera AM, Rojas CA, Hagerman RJ.   +4 more
europepmc   +1 more source

Enfermedad granulomatosa crónica

Revista Cubana de Hematología, Inmunología y Hemoterapia
La enfermedad granulomatosa crónica (EGC) es una inmunodeficiencia primaria de la fagocitosis. Se presenta un paciente de 13 años de edad que a partir el mes de nacido presentó infecciones recurrentes: diarreas, neumonías, tuberculosis pulmonar, gingivo ...
Vianed Marsán Suárez, Lázaro O del Valle Pérez, Consuelo Macías Abraham, Lourdes Palma Salgado, Idrián García García, Miriam Sánchez Segura, Ada A Arce Hernández, Rinaldo Villaescusa Blanco   +7 more
doaj  

Second part. [PDF]

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

Bálint syndrome in a patient with drug-resistant epilepsy having underlying X-linked lissencephaly with subcortical band heterotopia/"double cortex" syndrome. [PDF]

Neurol Perspect, 2023
Ghosh R, León-Ruiz M, Jana A, Roy D, Ghosh T, Benito-León J.   +5 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

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

Prognostic significance of telomerase reverse transcriptase promoter gen mutations in high grade meningiomas [PDF]

Biomedica, 2022
Cañas A, Jiménez E, Hakim F, Mejía JA, Ramón JF, Gómez D, Jaramillo-Velásquez D, Bermúdez S, Useche N, Pineda D, Cifuentes H, Becerra A, Muñoz Á, Santoyo N, Ruíz-Patiño A, Sotelo C, Archila P, Rodríguez J, Ávila J, Ordoñez-Reyes C, García-Robledo JE, Ricaurte L, Rojas L, Feo O, Burgos R, Ramírez C, Arrieta O, Zatarain-Barrón L, Vargas C, Carranza H, Otero J, Cardona AF.   +31 more
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