Results 231 to 240 of about 212,548 (293)

The UK National screening committee, the newborn genomes programme, and the ethical conundrum for UK newborn screening. [PDF]

J Community Genet
Rankin SM, Marskell L, Hamad L, Machin L.   +3 more
europepmc   +1 more source

RPS27L Enhances Myogenesis and Muscle Mass by Targeting IGF1 Through Liquid‐Liquid Phase Separation

Advanced Science, EarlyView.
Muscle‐specific RPS27L knock‐in mice exhibit increased body weight, muscle mass, and enhanced muscle regenerative capacity. RPS27L drives myogenesis by promoting myoblast proliferation, while inhibiting myogenic differentiation. Mechanistically, RPS27L targets IGF1 protein by liquid‐liquid phase separation through its N‐terminal intrinsically ...
Xiaoqin Liu, Yilong Yao, Junyu Yan, Mu Zeng, Xinhao Fan, Yijie Tang, Jiju Li, Yanwen Liu, Shanying Yan, Wei Wang, Lijuan Chen, Ruipu Chen, Yuxin Huang, Honor Calnan, Heng Wang, Graham Gardner, Yalan Yang, Zhonglin Tang   +17 more
wiley   +1 more source

Th role of counselling to reduce parental fears and anxiety about newborn screening for sickle cell disease in Northern Ghana. [PDF]

BMC Public Health
Duah E, Chatio ST, Ababio LO, Lister N, Egbujo O, Marfo K, Odame I, Ansah P.   +7 more
europepmc   +1 more source

Are PM6:Y6 Bulk Heterojunction Photoactive Films Cytocompatible and Electrically Stable in Biological Environments?

Advanced Electronic Materials, EarlyView.
PM6:Y6 organic photovoltaic films are systematically studied to understand their potential for use in bioelectronics. The films exhibit excellent stability in simulated physiological environments, enabling consistent power delivery and demonstrating compatibility with rat neurons and the choriallantoic membrane of chicken embryos.
Mathias Polz, Konrad Binter, Kaila M. Yallum, Thomas Rath, Marta Nowakowska‐Desplantes, Christa Schimpel, Gerhard Sommer, Nassim Ghaffari‐Tabrizi‐Wizsy, Natalie Banerji, Gregor Trimmel, Theresa Rienmüller   +10 more
wiley   +1 more source

Developing early intervention/support services for deaf children and their families [PDF]

, 2002

core  

Newborn screening for primary congenital hypothyroidism: past, present and future. [PDF]

Eur Thyroid J
Grob F, Lain S, Olivieri A.
europepmc   +1 more source

A Multicenter Collaborative Study on the Safety and Efficacy of Laparoscopic Appendectomy During Pregnancy

Annals of Gastroenterological Surgery, EarlyView.
Laparoscopic appendectomy (LA) during pregnancy was evaluated in a multicenter retrospective study in Japan. LA showed comparable maternal and fetal safety to open appendectomy (OA), supporting the feasibility and safety of LA in pregnant patients. ABSTRACT Aim Acute appendicitis in pregnant women requires accurate diagnosis and treatment because of ...
Katsuhiro Ogawa, Tomonori Akagi, Hidefumi Shiroshita, Hiroshi Yoshida, Masashi Miguchi, Ken Eto, Tetsuji Ohyama, Akiyoshi Kanazawa, Keiji Matsuda, Koya Hida, Seiichiro Yamamoto, Takeshi Naitoh, Masafumi Inomata, Japan Society of Laparoscopic Colorectal Surgery   +13 more
wiley   +1 more source

Newborn Screening for Metachromatic Leukodystrophy in Tuscany: The Paradigm of a Successful Preventive Medicine Program. [PDF]

Int J Neonatal Screen
Malvagia S, Bettiol A, Porcaro M, Mura M, Funghini S, Ombrone D, Forni G, Scolamiero E, Coppi F, Damiano R, Cereda C, Simonetti S, Lonetti A, Daniotti M, Caciotti A, Morrone A, Calbi V, Fumagalli F, Aiuti A, Procopio E, Guerrini R, la Marca G.   +21 more
europepmc   +1 more source

R‐APEX: A Knowledge Graph–Based Platform for the Elucidation of the Toxicological Mechanisms of Ambient Particulate Matter

Advanced Intelligent Systems, EarlyView.
R‐APEX is a knowledge graph platform developed to investigate how air pollutants such as particularly fine particulate matter (PM2.5) affect human health. By integrating large‐scale biomedical data and using machine learning, it reveals pollutant–gene–disease associations.
Zhixing Zhu, Jingcheng Yang, Xiaofei Li, Zhijie Zheng, Georgi Z. Genchev, Yuchen Ye, Liang Liu, Zihan Ran   +7 more
wiley   +1 more source

Cutoff levels for newborn screening of 21-OH deficiency in a Brazilian metropolitan area. [PDF]

J Pediatr (Rio J)
Gameleira KPD, Thomas JV, de Araújo VGB, Bolognani CV, Fernandes SES, Amorim FF.   +5 more
europepmc   +1 more source