Results 201 to 210 of about 48,964 (396)

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

Left atrial appendage occlusion plus oral anticoagulation in stroke patients despite ongoing anticoagulation: rationale and design of the ADD-LAAO clinical trial. [PDF]

open access: yesREC Interv Cardiol
Amaro S   +15 more
europepmc   +1 more source

Aplicación clinicorradiológica del uso de la tomografía computarizada craneal de tecnología espectral en el manejo del ictus isquémico agudo tras trombectomía mecánica [PDF]

open access: green
Luis Moreno-Navarro   +6 more
openalex   +1 more source

Dislipidemias y prevención del ictus: recomendaciones del Grupo de Estudio de Enfermedades Cerebrovasculares de la Sociedad Española de Neurología

open access: gold, 2020
E.J. Palacio-Portilla   +18 more
openalex   +1 more source

Cuidados de enfermería en pacientes críticos con ictus isquémico que requieren tratamiento con alteplasa

open access: diamond, 2023
Ana María Curicho-León   +3 more
openalex   +2 more sources

Safety and efficacy of uric acid in patients with acute stroke (URICO-ICTUS): a randomised, double-blind phase 2b/3 trial

open access: yesLancet Neurology, 2014
Á. Chamorro   +15 more
semanticscholar   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

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