Results 201 to 210 of about 3,451,010 (295)
ABSTRACT Introduction Firefighters may experience occupational exposure to per‐ and polyfluoroalkyl substances (PFAS). Volunteer firefighters make up 65% of the US fire service, but their serum PFAS profiles have not been well characterized. This study aims to (1) describe PFAS serum profiles among US volunteer firefighters from 9 states enrolled in ...
Katherine A. Lubina +16 more
wiley +1 more source
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle +10 more
wiley +1 more source
Repeat photography of Langtang Valley, Nepal (1949-2025): A dataset for monitoring landscape and settlement changes. [PDF]
Nüsser M, Schmidt S, Klaus A.
europepmc +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Revisiting therapeutic landscapes in the spa context: toward a multisensory, evidence-based framework for healing environments. [PDF]
Walterová J, Vylita T, Huseynli A.
europepmc +1 more source
Expanding the Utility of Exome Sequencing in Preventive and Population Genetics
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas +6 more
wiley +1 more source
Response to "Historical Circulation and Forgotten Evidence of Oropouche Virus in Colombia: Not as New as it Seems". [PDF]
Christofferson RC +2 more
europepmc +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source

