Results 221 to 230 of about 10,827 (280)

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

open access: yesClinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau   +7 more
wiley   +1 more source

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

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

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

PSHead: 3D Head Reconstruction from a Single Image with Diffusion Prior and Self‐Enhancement

open access: yesComputer Graphics Forum, EarlyView.
We introduce PSHead, a coarse‐to‐fine framework guided by both object and face priors, to produce a Gaussian‐based 3D avatar for a single frontal‐view reference image. In the coarse stage, we create an initial 3D representation by applying diffusion models trained for general object generation, using Score Distillation Sampling losses over novel views.
Jing Yang   +4 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

Hcfc1 and Ogt Mediate Zebrafish CNS Regeneration Through Hippo/Yap Signalling

open access: yesCell Proliferation, EarlyView.
This work identifies Hcfc1 and Ogt as key regulators of zebrafish CNS regeneration through modulation of Hippo/Yap signalling. Loss of Hcfc1 or Ogt activity inhibition impairs regeneration, which is restored by Yap overexpression, revealing a new regulatory axis that enhances CNS regenerative capacity.
Priyanka P. Srivastava   +9 more
wiley   +1 more source

Esthetic and reconstructive options for earlobe deformities. [PDF]

open access: yesJ Cutan Aesthet Surg
Wollina U   +3 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy