Results 291 to 300 of about 5,190,623 (337)

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe, Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski, Riley Kessler, Precilla D'Souza, Lynne Wolfe, Jean M. Johnson, Tyra Estwick, John Yang, Paul R. Lee, Jennifer Murphy, Camilo Toro, Thomas Markello, Dennis Carter, David R. Adams, William A. Gahl, Cynthia J. Tifft   +19 more
wiley   +1 more source

m6A Methylation‐Induced Autophagy Impairment by TFEB Regulation in SOD1‐G93A ALS Cell Model

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT We investigate the role of m6A RNA methylation in regulating transcription factor EB (TFEB) and its contribution to mitochondrial autophagy (mitophagy) dysfunction in amyotrophic lateral sclerosis (ALS). ALS cell models were used to analyse mitophagy markers and TFEB expression under METTL3 and TFEB modulation, using RT‐qPCR, Western blot ...
Di An, Yuhao Wu, Jingzhe Han, Pingping Fang, Yi Bu, Guang Ji, Jinliang Deng, Xueqin Song   +7 more
wiley   +1 more source

Arts-based research: Attending to methods. [PDF]

Meth Psychol
Phoenix C, Chamberlain K.
europepmc   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Social exclusion and mental health of youths affected by parental HIV/AIDS in China: Based on a serial mediating model. [PDF]

PLoS One
Wan J, Ji L, Wang Z, Zhao J, Li X.
europepmc   +1 more source

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf, Stina Lou, Anne Skakkebæk   +2 more
wiley   +1 more source

Health behaviours and affective states of partners of fly‐in fly‐out workers: A daily diary study

Australian Journal of Social Issues, EarlyView.
Abstract Partners of fly‐in fly‐out (FIFO) workers face increases in demands, for instance in care and family responsibilities, particularly in the absence of workers; however, little is known about how their daily life experiences influence their health across the FIFO work cycle.
Bernard Kwadwo Yeboah Asiamah‐Asare, Suzanne Robinson, Dominika Kwasnicka, Daniel Powell   +3 more
wiley   +1 more source

Principles of human physiology : with their chief applications to psychology, pathology, therapeutics, hygiène, and forensic medicin / by William B. Carpenter.

William Benjamin Carpenter, Francis Gurney Smith   +1 more
openalex   +2 more sources

Correction: Contrasting two versions of the 4-cup 2-item disjunctive syllogism task in great apes. [PDF]

Anim Cogn
Jones B, Call J.
europepmc   +1 more source

How can measurement-based care improve psychotherapy processes and mental health service delivery? A synthesis of expert perspectives. [PDF]

World Psychiatry
Moltu C, van Sonsbeek M, Bovendeerd B, de Jong K, Barkham M, Sales C, McAleavey A, Mellor-Clark J, Schwartz B, Nordberg SS, Jacob J, Lutz W, Kaldo V, Janse P, Brattland H, Compare A, Douglas S.   +16 more
europepmc   +1 more source