Results 211 to 220 of about 244,000 (312)

Fractal Anatomy of Human Organs: A Narrative Review of Structure, Function, and Clinical Perspectives

open access: yesClinical Anatomy, EarlyView.
ABSTRACT Fractal geometry describes complex, self‐similar patterns that repeat across spatial scales and is increasingly recognized as relevant in anatomical research. Indeed, the fractal organization is consistently observed in respiratory, cardiovascular, gastrointestinal, nervous, renal, hepatic, and dermatological systems.
Immacolata Belviso   +7 more
wiley   +1 more source

De novo variants in CNOT3 cause a variable neurodevelopmental disorder [PDF]

open access: bronze, 2019
R. J. Martin   +22 more
openalex   +1 more source

Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication

open access: yesAnnals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 individuals with a clinical history of seizures or suspected seizures.
Michelle M. Morrow   +8 more
wiley   +1 more source

Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series

open access: yesAnnals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi   +6 more
wiley   +1 more source

Neurodevelopmental disorders: assessing and training working memory. [PDF]

open access: yesBMC Psychol
Ferreira P   +16 more
europepmc   +1 more source

Novel De Novo Intronic Variant of SYNGAP1 Associated With the Neurodevelopmental Disorders [PDF]

open access: gold
Wuming Xie   +5 more
openalex   +1 more source

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