Publications by authors named "E V Fowler"

An archetype signal dependent noise (SDN) model is a component used in analyzing images or signals acquired from different technologies. This model-component may share properties with stationary normal white noise (WN). Measurements from WN images were used as standards for making comparisons with SDN in both the image domain (ID) and Fourier domain (FD).

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Objective: Prenatal detection and genetic diagnosis of congenital upper limb anomalies is particularly challenging due to both anatomical and technological factors. Hereby, we present a cross-sectional description of clinical and genetic findings in a 188-patient cohort.

Method: In this retrospective study, we present 188 cases with prenatally or postnatally detected upper limb anomalies, either isolated, associated with other anomalies, or syndromic.

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Article Synopsis
  • Prenatal detection of copy number variants (CNVs) aids in diagnosing fetal genetic abnormalities and enhances early intervention in prenatal care.
  • * Various techniques such as SNP arrays, CGH arrays, NIPT, WES, and WGS are used for CNV detection, each with unique advantages and limitations.
  • * Accurate classification and interpretation of CNVs are critical for effective clinical management and addressing genetic counseling challenges, especially for variants with uncertain clinical significance.
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Adult mammalian lungs exhibit a fractal pattern, as each successive generation of airways is a fraction of the size of the parental branch. Achieving this structure likely requires precise control of airway length and diameter, as the embryonic airways initially lack the fractal scaling observed in the adult. In monolayers and tubes, directional growth can be regulated by the planar cell polarity (PCP) complex.

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