Results 61 to 70 of about 3,939 (213)
ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies [PDF]
, 2014 Renal cysts are clinically and genetically heterogeneous conditions. Polycystic kidney disease (PKD) is common and its characterization has paved the way for the identification of a growing number of cilia-related disorders (ciliopathies) of which most ...
Carsten Bergmann
core +1 more source
A Role for Alström Syndrome Protein, Alms1, in Kidney Ciliogenesis and Cellular Quiescence [PDF]
, 2007 Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome. Alström syndrome is a rare disorder characterized by early obesity and sensory impairment, symptoms shared with other genetic diseases affecting proteins of ...
Andersen +57 more
core +3 more sources
Retinal dystrophies: A look beyond the eyes
American Journal of Ophthalmology Case Reports, 2022 Purpose: To illustrate the importance of systemic evaluation in retinal dystrophies through examples of Alstrom syndrome, Bardet Biedl syndrome, and Refsum disease.
Vincent Duong Tang +5 more
doaj
The molecular basis of human retinal and vitreoretinal diseases [PDF]
, 2010 During the last two to three decades, a large body of work has revealed the molecular basis of many human disorders, including retinal and vitreoretinal degenerations and dysfunctions.
Berger, W +2 more
core +1 more source
Robust Syndrome Extraction via BCH Encoding [PDF]
arXiv, 2023 Quantum data-syndrome (QDS) codes are a class of quantum error-correcting codes that protect against errors both on the data qubits and on the syndrome itself via redundant measurement of stabilizer group elements. One way to define a QDS code is to choose a syndrome measurement code, a classical block code that encodes the syndrome of the underlying ...
arxiv
Europhys. Lett. 59, 662 (2002), 2002 We propose a new self-organizing mechanism behind the emergence of memory in which temporal sequences of stimuli are transformed into spatial activity patterns. In particular, the memory emerges despite the absence of temporal correlations in the stimuli.
arxiv +1 more source
, 2008 Nephronophthisis (NPH) is an autosomal recessive disease characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form).
A Aguilera +82 more
core +2 more sources
Weak Wave Turbulence Scaling Theory for Diffusion and Relative Diffusion in Turbulent Surface Waves [PDF]
Europhysics Letters 58, 517-523 (2002), 2001 We examine the applicability of the weak wave turbulence theory in explaining experimental scaling results obtained for the diffusion and relative diffusion of particles moving on turbulent surface waves. For capillary waves our theoretical results are shown to be in good agreement with experimental results, where a distinct crossover in diffusive ...
arxiv +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To develop and evaluate an animation for parents about prenatal sequencing. Methods A total of 428 participants who had been pregnant, or whose partner had been pregnant, in the past 24 months. Parents, patient organisation representatives and clinicians co‐designed the animation describing prenatal sequencing (pS). Participants were
Morgan Daniel +12 more
wiley +1 more source