Results 81 to 90 of about 1,755 (96)

[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

[RYR1 myopathies in childhood: phenotype-genotype correlation and incidence]. [PDF]

Rev Neurol
Del Arco-Guzmán N, Lobato-López S, Calvo-Medina R, Vera-Medialdea R, Ruiz-Pérez C, Ramos-Fernández JM.   +5 more
europepmc   +1 more source

Variante no descrita previamente en el gen COL3A1: causalidad del Síndrome de Ehlers-Danlos tipo Vascular. [PDF]

Adv Lab Med
Gutiérrez Romero E, Padilla Apuntate N, Izquierdo Álvarez S.   +2 more
europepmc   +1 more source

[Hypertrophic cardiomyopathy with mid-ventricular phenotype and filamin C mutation, an uncommon case report]. [PDF]

Arch Peru Cardiol Cir Cardiovasc
Orozco Burbano JD, Palacios CH, Saldarriaga Giraldo CI, Durango Gutiérrez LF, Rendón Isaza JC.   +4 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

[Juvenile Pompe disease: Undescribed genotype. First report in Quintana Roo]. [PDF]

Rev Med Inst Mex Seguro Soc
Flores-Gonzale A, Herrera-Del Valle LE, Lara-Ramírez VR, Marco-Valdez I, Torres-Pedroza AJ, Briceño-Rodas KJ.   +5 more
europepmc   +1 more source

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

[Our Experience with Pediatric Patients Withdrawn from Pharmacological Treatment for Epilepsy who Remain Untreated]. [PDF]

Rev Neurol
López Pisón J, Gómez Sánchez C, Morte Coscolín P, Fariña Jara MV, Martínez Calvo F, Fernando Martínez R.   +5 more
europepmc   +1 more source