Results 111 to 120 of about 2,048,344 (345)

Twenty‐Year Longitudinal Cohort Study of Cancer Incidence and Mortality Among Workers in Two Primary Aluminum Prebake Smelters

open access: yesAmerican Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Classified as carcinogenic to humans by the International Agency for Research on Cancer, aluminum production has been transitioning towards lower polycyclic aromatic hydrocarbon‐emitting prebake smelters. This study explored the risk of cancer and mortality over 20 years follow‐up among a cohort of aluminum prebake smelter workers ...
Natasha Kinsman   +7 more
wiley   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates   +6 more
wiley   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

Covid 19 occupational or environmental hazard or both?

open access: bronze, 2021
Kiran Kumar N.   +5 more
openalex   +2 more sources

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source

Evaluation of polyurethane foam passive air sampler (PUF) as a tool for occupational PAH measurements

open access: hybrid, 2017
Bo Strandberg   +5 more
openalex   +1 more source

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