Results 201 to 210 of about 1,511,386 (309)

Clinicopathologic gene expression profiling in lieu of sentinel lymph node biopsy: A case report in an uninsured patient with melanoma. [PDF]

JAAD Case Rep
Cooper BR, Cena S, Rasul T, Concilla A, Stepien A.   +4 more
europepmc   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Posthumous assisted reproduction and post-mortem paternity. [PDF]

Front Reprod Health
Raimondi C, Giardina S, Masilla SS, Refolo P, Todini C, Spagnolo AG.   +5 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

Colorectal Cancer Legal and Administrative Burden Support (COLLABS): A Pilot Clinical Trial. [PDF]

JCO Oncol Pract
Phung Q, Lin K, Jansen RJ, Yokanovich L, Kourelis R, Hartung E, Premnath N, Blaes AH, Vogel RI, Parsons HM, Gupta A.   +10 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

Bystander interventions and their impact on road injury outcomes: a scoping review. [PDF]

Scand J Trauma Resusc Emerg Med
Aveyard N, Russam GS, Gluyas-Harris J, Nutbeam T.   +3 more
europepmc   +1 more source

Legal Technical Assistance and Legal Education

TRENDS IN THE SCIENCES, 2012
openaire   +2 more sources

Public Legal Assistance in Baltimore City [PDF]

, 1966
Derby, E. Stephen
core  

Social Determinants of Health and Health‐Related Quality of Life: The Potential Mediating Role of Social Activities, Access to Medical Services, and Access to Social Services

Australian Journal of Social Issues, EarlyView.
ABSTRACT This study explored the mediating influences of access to social activities, social services, and health and medical services on the relationship between social determinants of health and health‐related quality of life. A survey of 602 adults was conducted in a regional area of Australia.
Candice Oster, Ashleigh Powell, Claire Hutchinson, Richard Leibbrandt, Svetlana Bogomolova   +4 more
wiley   +1 more source