Results 201 to 210 of about 622,597 (277)

Ethylene Oxide Measurements From OSHA Workplace Investigations: Patterns in Exposure by Industry, Occupation, and Over Time

American Journal of Industrial Medicine, EarlyView.
ABSTRACT Background Ethylene oxide (EtO) is an occupational carcinogen; however, contemporary exposure scenarios in US workplaces are not well characterized within the literature. We aim to describe EtO exposure trends in the US workplace using historical data from the Occupational Safety and Health Administration (OSHA) Chemical Exposure Health ...
Brian Christensen, Matthew M. Dahm, I‐Chen Chen, Kaitlin Kelly‐Reif   +3 more
wiley   +1 more source

SIZES OF UPPER URINARY TRACT CALCULI AND METHODS TO REMOVE THESE CALCULI

, 1976
Etsuji Takasaki, Eiichiro Shimano, Masayoshi Nagata   +2 more
openalex   +2 more sources

Phenotypical and Genotypical Expansion of Autosomal‐Dominant KDM1A‐Related Neurodevelopmental Disorder Spectrum: A Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart, Melanie Spanjaard, Lilian Kaufmann, Katrin Hinderhofer, Christian P. Schaaf, Markus Ries, Maja Hempel   +6 more
wiley   +1 more source

OBSERVATION ON URINARY GLYCOSAMINOGLYCAN EXCRETION IN PATIENTS WITH URINARY CALCULUS IN RELATION TO THE NATURE OF ORGANIC MATRIX OF CALCULI

, 1983
Shiro Baba, Kazuko Nakazawa, Kunio Odajima, Toshio Fujioka, Hiroshi Nakamura   +4 more
openalex   +2 more sources

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

STUDY OF THE INFLUENCE OF CONDITIONS DURING URINE COLLECTION ON MEASUREMENT OF THE MAJOR CONSTITUENTS OF URINARY CALCULI

, 1985
Yoshihisa Miyazaki, Shoichi Ebisuno, Michio Kitagawa, Shigeyoshi Morimoto, Shu Yasukawa, Tadashi Ohkawa   +5 more
openalex   +2 more sources

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Exonic Variation and Its Clinical Impact in 7221 Old Order Amish

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The Amish of Lancaster County, PA has been the focus of genetic studies for many years due to its demographic history and unique genetic makeup that includes a historical bottleneck event and subsequent genetic drift, resulting in a marked decrease in genetic diversity and increased frequency of some variants that have substantially shaped the
Braxton D. Mitchell, Ebuka Onyenobi, Joshua P. Lewis, Brady Gaynor, James A. Perry, Kristin Maloney, Jeffrey R. O'Connell, Jessica Tiner, Amber L. Beitelshees, Cristopher V. Van Hout, Patrick F. McArdle, Huichun Xu, Erik G. Puffenberger, Karlla W. Brigatti, Melanie Daue, Hilary B. Whitlatch, Anna Alkelai, Alejandro A. Schäffer, John Overton, Elizabeth A. Streeten, Toni I. Pollin, Alan R. Shuldiner   +21 more
wiley   +1 more source

LONG-TERM RESULTS OF ENDOUROLOGICAL TREATMENT OF URINARY CALCULI

, 1994
Akihiko Yamasaki
openalex   +2 more sources

The Physical and Mental Health of Mothers of Aboriginal Children in Out‐of‐Home Care in Western Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT There is a need to better understand the physical and mental health of mothers of Aboriginal children who enter out‐of‐home care to prevent removals. Evidence suggests that families involved in child protection systems often experience significant needs that may culminate in child removals.
Fernando Lima, Melissa O'Donnell, Alison J. Gibberd, Kathleen Falster, Emily Banks, Jocelyn Jones, Robyn Williams, Francine Eades, Benjamin Harrap, Richard Chenhall, Olivia Octoman, Sandra Eades   +11 more
wiley   +1 more source