Results 201 to 210 of about 104,096 (218)

Can a single coastal tide gauge help predict internal solitary wave activity offshore. [PDF]

open access: yesSci Rep
Roustan JB   +5 more
europepmc   +1 more source

Combined therapy for managing a clear cell renal cell carcinoma in a horseshoe kidney: A case report. [PDF]

open access: yesRadiol Case Rep
Mejía-Quiñones V   +3 more
europepmc   +1 more source

Neurofilament light chain (Nf-L) in cerebrospinal fluid and serum as a potential biomarker in the differential diagnosis of neurological diseases in cattle. [PDF]

open access: yesVet Res
Di Muro G   +17 more
europepmc   +1 more source

A Pilot Study to Evaluate Neurodevelopmental Outcomes in a Pediatric Cohort With Genodermatoses

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm (n = 8) compared to individuals with only ectoderm or mesoderm (n = 16) involvement. We hypothesized that neuroectodermal involvement would result in poorer neurocognitive performance.
Sneha A. Rangu   +10 more
wiley   +1 more source

Phenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams–Beuren Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal (GI) symptoms are common in patients with Williams–Beuren syndrome (WBS), but their prevalence and possible causes are not yet fully known. This study assessed GI symptoms' prevalence and their possible origin by performing a predefined set of tests in adult WBS patients.
Maria Francesca Bedeschi   +10 more
wiley   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson   +10 more
wiley   +1 more source

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