Results 181 to 190 of about 450,985 (343)

Liveness‐Verified Dynamic Time Warping‐Based Authentication and Hybrid Adaptive Neuro‐Fuzzy Inference System Identification for Single‐Channel Diaphragmatic Breathing Surface Electromyography Biometrics

open access: yesAdvanced Intelligent Systems, EarlyView.
The first biometric framework to harness dynamic time warping (DTW) for single‐channel diaphragmatic surface electromyography authentication via post‐hoc alignment is presented. By optimally warping deep–normal–deep breath cycles, DTW achieves perfect genuine–impostor separation (equal error rates = 0%), while a parallel adaptive neuro‐fuzzy inference ...
Beyza Eraslan   +2 more
wiley   +1 more source

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The interstitial 6p microdeletion syndrome is characterized by dysmorphic facies and structural heart, kidney, brain, and musculoskeletal differences. RREB1 haploinsufficiency and consequent abnormal RAS‐MAPK pathway signaling have been proposed as a driver of the disease phenotype; however, apart from a single case report, the phenotype of ...
Alanna Strong   +16 more
wiley   +1 more source

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah   +6 more
wiley   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo   +4 more
wiley   +1 more source

High Human Papillomavirus DNA loads in Inflammatory Middle Ear Diseases. [PDF]

open access: yesPathogens, 2020
Malagutti N   +14 more
europepmc   +1 more source

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