Results 91 to 100 of about 560,489 (305)

Severe Nerve Enlargement in SOS2‐Related Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome is a genetic multisystem congenital disorder, caused by pathogenic variants in genes that encode components of the RAS/MAPK signaling pathway. Pathogenic variants in SOS2 represent less than 2% of cases with NS. The phenotype includes a particularly high prevalence (65%) of lymphatic disease. Recently, severe nerve enlargements
Erika Leenders   +11 more
wiley   +1 more source

Breaking Bonds at Tin(II): Reductive or Oxidative Addition?

open access: yesAngewandte Chemie, EarlyView.
Typically, the addition of a chemical bond to a metal centre is assumed─without question─to be an oxidative process. Here, through studies of bond addition to tin(II), we reveal a spectrum ranging from ‘oxidative’ (Cl─Cl) to ‘reductive’ (Be─Be) processes, with other bonds (B─B, B─H, H─H) falling between these two extremes.
Maximilian Dietz   +3 more
wiley   +2 more sources

CleanMel: Mel-Spectrogram Enhancement for Improving Both Speech Quality and ASR [PDF]

open access: yesarXiv
In this work, we propose CleanMel, a single-channel Mel-spectrogram denoising and dereverberation network for improving both speech quality and automatic speech recognition (ASR) performance. The proposed network takes as input the noisy and reverberant microphone recording and predicts the corresponding clean Mel-spectrogram.
arxiv  

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei   +10 more
wiley   +1 more source

A Deep Learning Approach to Data-driven Parameterizations for Statistical Parametric Speech Synthesis [PDF]

open access: yesarXiv, 2014
Nearly all Statistical Parametric Speech Synthesizers today use Mel Cepstral coefficients as the vocal tract parameterization of the speech signal. Mel Cepstral coefficients were never intended to work in a parametric speech synthesis framework, but as yet, there has been little success in creating a better parameterization that is more suited to ...
arxiv  

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who
Caleb P. Bupp   +7 more
wiley   +1 more source

Synchronized Video-to-Audio Generation via Mel Quantization-Continuum Decomposition [PDF]

open access: yesarXiv
Video-to-audio generation is essential for synthesizing realistic audio tracks that synchronize effectively with silent videos. Following the perspective of extracting essential signals from videos that can precisely control the mature text-to-audio generative diffusion models, this paper presents how to balance the representation of mel-spectrograms ...
arxiv  

Choice of Mel Filter Bank in Computing MFCC of a Resampled Speech [PDF]

open access: yesarXiv, 2014
Mel Frequency Cepstral Coefficients (MFCCs) are the most popularly used speech features in most speech and speaker recognition applications. In this paper, we study the effect of resampling a speech signal on these speech features. We first derive a relationship between the MFCC param- eters of the resampled speech and the MFCC parameters of the ...
arxiv  

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