Results 301 to 310 of about 2,545,958 (345)

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Paroxysmal kinesigenic dyskinesia (PKD) is the most common hereditary paroxysmal movement disorder. The PRRT2 gene is the first identified causative gene and accounts for the majority of PKD. In this study, we investigated the pathogenicity of PRRT2 variants in the splice regions. Methods Patients with clinically suspected PKD and no
Jiao‐Jiao Xu, Yu‐Lan Chen, Wan‐Bing Sun, Hong‐Fu Li, Zhi‐Ying Wu, Dian‐Fu Chen   +5 more
wiley   +1 more source

Epigenetic Mechanisms in Fabry Disease: A Thematic Analysis Linking Differential Methylation Profiles and Genetic Modifiers to Disease Phenotype. [PDF]

Curr Issues Mol Biol
Singh J, Santosh P, Ramaswami U.
europepmc   +1 more source

Change in Cognition Following Ischaemic Stroke

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Cognitive decline can occur following ischaemic stroke. How cognition changes over time and associations with cognitive change are poorly understood. This study aimed to explore these issues over 2 years following ischaemic stroke.
Wenci Yan, Terence Quinn, Alex McConnachie, Niall Broomfield, Yun Wong, David Dickie, Kirsten Forbes, Matthew Walters, Jesse Dawson   +8 more
wiley   +1 more source

Phenotypic Switching of VSMCs in the Development of CVDs: Focus on miRs. [PDF]

Int J Mol Sci
Khovantseva U, Markina Y, Kirichenko T, Goncharova K, Kiseleva D, Cherednichenko V, Markin A.   +6 more
europepmc   +1 more source

Refining patient stratification and treatment decision-making in acute SMA occlusion. [PDF]

World J Emerg Surg
Ye Y, Hu Y, Ji X, Zhang J, Xu H, An P.
europepmc   +1 more source

Novel Bilateral Geographic Atrophy Phenotype Associated With <i>CRX</i> Mutation. [PDF]

J Vitreoretin Dis
Christensen CA, Gupta N, Breazzano MP.
europepmc   +1 more source

Genetic risk scores of psychiatric phenotypes are associated with depression risk in a prospective Dutch population-based cohort. [PDF]

Psychol Med
Hofman A, Sedaghati-Khayat B, Vreeker A, Ikram MA, Uitterlinden AG, van Meurs JBJ, van Rooij JGJ, Luik AI.   +7 more
europepmc   +1 more source

(Epi)genotype-phenotype correlations of Beckwith-Wiedemann syndrome in China. [PDF]

Ital J Pediatr
Lan D, Zhang S, Li J, Wang Y, Dong C.
europepmc   +1 more source

Automated Chronic Obstructive Pulmonary Disease Phenotyping and Control Assessment in Primary Care: Retrospective Multicenter Study Using the Seleida Model.

JMIR Med Inform
Maya Viejo JD, Navarro Ros FM.
europepmc   +1 more source

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Phenotypes

2023
Little progress has been made in the identification of novel pharmacological therapies for critically ill patients with sepsis, acute kidney injury, and acute respiratory distress syndrome. This lack of progress can likely be explained in part by inherent heterogeneity in the critically ill population, including but not limited to the dynamic state of ...
Heijnen, Nanon F. L., Calfee, Carolyn S., Bos, Lieuwe D. J.   +2 more
openaire   +2 more sources