Results 131 to 140 of about 106,163 (352)
BLOOD & THUNDER CLASSICS, VOL. 2 [PDF]
, 2009 A MAGAZINE – A game of Chutes and Ladders – a network of pools connected by streams, rivulets, creeks and rivers. Concerns: aluminum, sculpture, film, an endless image or an image-object, cork, shoulders as the center of movement, archery, wicker ...
Taylor, Brian
core +1 more source
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations
Clinical Genetics, EarlyView.Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad +11 more
wiley +1 more source
Two devices for analysis of nystagmus [PDF]
Electromechanical devices for measuring vestibular ...
Guedry, F. E., Jr., Turnipseed, G. T.
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Clinical Genetics, EarlyView.To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum +13 more
wiley +1 more source
Characterization of slow and fast phase nystagmus [PDF]
A current literature review of the analog and digital process of vestibular and optical kinetic nystagmus reveals little agreement in the methods used by various labs.
Im, Jae J. +4 more
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Is there Hysterical Nystagmus? [PDF]
The Journal of Nervous and Mental Disease, 1895 n ...
openaire +2 more sources
Diagnosis and treatment of occipital brain lesions in children
Developmental Medicine &Child Neurology, EarlyView.Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini +4 more
wiley +1 more source
Familial adult myoclonus epilepsy: A comprehensive diagnostic strategy for clinical practice
Epilepsia, EarlyView.Abstract Familial adult myoclonus epilepsy (FAME) is a genetic neurological disorder characterized by cortical myoclonus and epileptic seizures with clinical features that overlap with other movement disorders and epileptic syndromes, particularly essential tremor (ET), progressive myoclonic epilepsy (PME), and juvenile myoclonic epilepsy (JME).
Yitao Lu +14 more
wiley +1 more source