Results 131 to 140 of about 129,951 (312)

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 6, June 2025.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson   +10 more
wiley   +1 more source

Is Milking and Stripping Chest Tubes Really Necessary?

open access: bronze, 1986
Fidelita Lim-Levy   +4 more
openalex   +1 more source

A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri   +3 more
wiley   +1 more source

Acute Myocardial Ischemia Caused by Mediastinal Chest Tube Suction

open access: bronze, 1980
James W. Chapin   +2 more
openalex   +1 more source

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione   +12 more
wiley   +1 more source

Experimental study of a novel mouse model of tibial shaft fracture combined with blunt chest trauma

open access: yesAnimal Models and Experimental Medicine, Volume 8, Issue 4, Page 696-706, April 2025.
Novel animal models showed the same pathological mechanism and imaging characteristics as those of patients with multiple trauma. Our model is useful for studying whether blocking or interfering with cytokine responses is beneficial in the treatment of multiple trauma patients.
Bing Zhang   +5 more
wiley   +1 more source

A Disease Labeler for Chinese Chest X-Ray Report Generation [PDF]

open access: yesarXiv
In the field of medical image analysis, the scarcity of Chinese chest X-ray report datasets has hindered the development of technology for generating Chinese chest X-ray reports. On one hand, the construction of a Chinese chest X-ray report dataset is limited by the time-consuming and costly process of accurate expert disease annotation.
arxiv  

397. Optimum tube voltage for chest image using insight system

open access: bronze, 1994
Yoshiyuki Asai   +6 more
openalex   +2 more sources

Uncommon complications during chest tube placement: a potential role of tube material [PDF]

open access: bronze, 2003
Philip K. Berger   +3 more
openalex   +1 more source

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