Results 191 to 200 of about 1,507,010 (289)

Paths of legal recognition of genetic counselors in Canada: A framework for action. [PDF]

J Genet Couns
Patrinos D, Bonilha AE, Knoppers BM, Elliott AM, GenCOUNSEL Study, Zawati MH.   +5 more
europepmc   +1 more source

Commentary on Notification and Recordkeeping of Occupational Mesothelioma in India

American Journal of Industrial Medicine, EarlyView.
ABSTRACT In India, some occupational diseases are notifiable under the Mines Act, 1952, and the Factories Act, 1948. Mesothelioma, primarily attributable to asbestos exposure, has been listed specifically as one of the notifiable diseases under the Mines Act, 1952, and is notifiable under the category of occupational cancer in the Factories Act, 1948 ...
Raja Singh, Arthur L. Frank
wiley   +1 more source

Ethical Horizons in Robotic Rehabilitation: Ensuring Safe AI Use Under the EU AI Act. [PDF]

Med Sci (Basel)
Calabrò RS.
europepmc   +1 more source

Genotypes and Phenotypes of Patients With TSPEAR‐Related Disorder: Evidence of a Predominant Dental Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani, Lucia Tiberi, Annarita Giliberti, Elia Dirupo, Laila Zaroili, Francesco Brancati, Michela Brena, Stefano Caraffi, Chiara De Luca, Livia Garavelli, Anna Virginia Gulino, Milena Mariani, Marzia Pollazzon, Angelo Selicorni, Samuela Landini, Ilaria Sani, Rosangela Artuso, Angela Peron   +17 more
wiley   +1 more source

Caring for the Informal Caregivers: Systematic Review of Unmet Needs in Palliative Care. [PDF]

Nurs Open
Usai M, Sguanci M, De Benedictis A, Piredda M, De Marinis MG.   +4 more
europepmc   +1 more source

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

American 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, Álvaro Martín‐Rodríguez, Miguel Del Campo, Lynne M. Bird   +3 more
wiley   +1 more source

Time of Care and Time of Dying: A Multidisciplinary Case Report on End-of-Life Experience Within the Italian Legal Framework. [PDF]

Healthcare (Basel)
Iannopollo L, Pinto E, Iannizzi P, Salmaso F, Feltrin A.   +4 more
europepmc   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Enhancing research ethics and protections for uninsured and underinsured research participants in clinical trials in the USA. [PDF]

J Clin Transl Sci
Pascalev A, Otado J, Adler P, Blackman MR, Vittone S.   +4 more
europepmc   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source