Results 101 to 110 of about 1,392,150 (295)

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

Statewide Variation in Practices and Charges for Primary Spontaneous Pneumothorax in Maryland, United States: A Retrospective Study

open access: yesJournal of Chest Surgery
Background: The optimal treatment for primary spontaneous pneumothorax (PSP) remains undefined. Furthermore, the overall utilization and costs of various treatment approaches are incompletely understood.
Grace Lassiter   +5 more
doaj   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

Biocompatibility and healing patterns in experimentally induced canine tibial fractures using Pedicle screw‐Rod external fixation

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study demonstrates that using a Pedicle screw‐Rod configuration for the external fixation of non‐articular tibial osteotomy aligns well with the principles of biological osteosynthesis, resulting in secondary bone healing characterized by callus formation and neovascularization.
Mohammad Mahdi Gooran   +3 more
wiley   +1 more source

MASSIVE HEMOTHORAX AND CARDIAC ARREST AFTER CHEST TUBE REMOVAL [PDF]

open access: bronze, 2021
Grant Senyei   +5 more
openalex   +1 more source

Generating golden Syrian hamsters with conditional alleles via zygote microinjection of CRISPR/Cas9

open access: yesAnimal Models and Experimental Medicine, EarlyView.
We established the first conditional knockout (cKO) model in the golden Syrian hamster by CRISPR/Cas9‐mediated genome editing. Cas9 protein, two sgRNAs, and a donor plasmid carrying loxP‐flanked exon 2 of the ApoF gene were microinjected into one‐cell embryos. The floxed allele was efficiently generated (up to 27%) and transmitted through the germline.
Wei Chen   +16 more
wiley   +1 more source

A contribution to the anatomy of two rare cetacean species: The hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica)

open access: yesThe Anatomical Record, EarlyView.
Abstract The anatomical description of the hourglass dolphin (Cephalorhynchus cruciger) and the spectacled porpoise (Phocoena dioptrica) remains largely unexplored, due to limited specimen availability and preservation challenges. This study employed digital imaging techniques, conventional histology, and computed tomography to provide visualization of
Jean‐Marie Graïc   +26 more
wiley   +1 more source

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