Results 141 to 150 of about 10,376 (262)

Expanding Phenotype of GINS1 Deficiency: A Case Report and Review of the Literature

open access: yesClinical Genetics, EarlyView.
The authors present a novel case and review of individuals with GINS1 deficiency, causing severe growth restriction and combined immunodeficiency. Only the ninth case of this ultrarare disorder, it highlights the role of these variants in disease, glaucoma as a feature, and the possibility of immunodeficiency without infections in affected individuals.
Michael P. Mackley   +6 more
wiley   +1 more source

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

open access: yesClinical Genetics, EarlyView.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen   +5 more
wiley   +1 more source

VividHairEdit: Disentangled Latent Control for High‐Fidelity Hairstyle Transfer via StyleGAN2 Inversion

open access: yesComputer Graphics Forum, EarlyView.
VividHairEdit is an advanced StyleGAN2 inversion system for high‐fidelity hair transfer and editing. Our system features improved structural integration, vibrant appearance representation, and optimized latent code selection, achieving superior generation quality and usability. A user‐friendly sketch interface enables precise modifications that reflect
Eunyeong Choi, Sihun Jin, Dongjoon Kim
wiley   +1 more source

SDFs from Unoriented Point Clouds using Neural Variational Heat Distances

open access: yesComputer Graphics Forum, EarlyView.
We propose a novel variational approach for computing neural Signed Distance Fields (SDF) from unoriented point clouds. We first compute a small time step of heat flow (middle) and then use its gradient directions to solve for a neural SDF (right). Abstract We propose a novel variational approach for computing neural Signed Distance Fields (SDF) from ...
Samuel Weidemaier   +5 more
wiley   +1 more source

Paediatric Adenoidectomy: A Retrospective Cohort Study of Clinical Practice and Outcomes in NHS England (2008–2024)

open access: yesClinical Otolaryngology, EarlyView.
ABSTRACT Objectives To examine trends and outcomes for paediatric adenoidectomies in NHS England between 2008 and 2024. Design Retrospective observational cohort study using Hospital Episode Statistics. Setting NHS trusts in England. Participants Children (≤ 16 years) undergoing adenoidectomy.
Angus Lawson   +7 more
wiley   +1 more source

Congenital Anomalies of the Nose: From Embryologic to Surgical Treatment. [PDF]

open access: yesCureus
Deftereou TE   +5 more
europepmc   +1 more source

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