Results 301 to 310 of about 1,922,511 (410)

Mosaic X-linked adrenoleukodystrophy in males identified by newborn screening and next-generation sequencing. [PDF]

NPJ Genom Med
Keefe AC, Jensen DM, Pham MM, Au NYT, Beckman E, Penon-Portmann M, Shelkowitz E, Bend R, Morrow MM, Kruszka P, Vats D, Russell BE, Chan E, Wong D, Rabani A, O'Grady L, Sahai I, Widmeyer K, Sperry ED, Hallinan BE, Tryon R, Lund TC, Eichler FS, Sun A, Bennett JT.   +24 more
europepmc   +1 more source

Two‐Stage Treatment for Adult Large Patent Ductus Venosus

Annals of Gastroenterological Surgery, EarlyView.
This is the first report of a two‐stage treatment for an adult large PDV involving the first stage surgical angioplasty of the large Arantius' duct and second stage embolization of the formed small Arantius' duct. The two‐stage approach could avoid embolic material migration into the systemic circulation or acute portal hypertension associated with the
Shohei Kudo, Shiro Onozawa, Ryosuke Miyauchi, Ryota Matsuki, Yoshihiro Sakamoto   +4 more
wiley   +1 more source

TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project. [PDF]

Orphanet J Rare Dis
Saier C, Sansen S, Berghout J, Freyler K, Einhorn M, Einhorn Y, Matalonga L, Beltran S, Novelli A, Selvatici R, Fortunato F, Montanari S, Martinez-Fresno M, Gumus G, Agolini E, Garnier N, Ferlini A, Bertini E, Kirschner J.   +18 more
europepmc   +1 more source

Turning on the Heat by Cocrystal Engineering: The Rise of Organic Charge Transfer Photothermal Cocrystals as an Emerging Therapeutic Frontier in Biomedical Application

Aggregate, EarlyView.
This review summarizes recent developments in the design of photothermal charge transfer cocrystals for antibacterial therapy, cancer eradication, and bone regeneration, highlighting the design motivations and chemical principles of the strategies. It offers deep insights into the future development of advanced photothermal cocrystals for targeted ...
Arshad Khan, Rabia Usman, Shuo Xiang, Yasinalli Tamboli, Muhammad Umair, Awatef M. Alshehri, Ibraheem Bushnak, Yan Deng, Nongyue He   +8 more
wiley   +1 more source

A Pilot Test of DNA-based Analysis Using Anonymized Newborn Screening Cards in Iowa [PDF]

, 1998
Anderson, Jeannette, Getchell, Jane, Lysaught, M. Therese, Milhollin, Lisa, Murray, Jeffrey C., Peirce, Ryan, Rhead, William, Susanin, Jan   +7 more
core   +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

P600: Maximizing equity in newborn screening via reporting variants of uncertain significance (VUS)

Genetics in Medicine Open
Denise Kay, Carlos Saavedra-Matiz, Jacklyn Dott, Jing Xiao, Michele Caggana   +4 more
doaj  

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

Eur Thyroid J
Garrelfs MR, Mooij CF, Boelen A, van Trotsenburg ASP, Zwaveling-Soonawala N.   +4 more
europepmc   +1 more source

Economic evaluation of newborn hearing screening: modelling costs and outcomes [PDF]

, 2003
Hubertus von Voß, A. Nickisch, Silke Kunze, Uwe Siebert, Petra Schnell‐Inderst, Eva Grill, Franz Hessel, Jürgen Wasem   +7 more
openalex  

Addressing Anemia in High‐Altitude Populations: Global Impact, Prevalence, Challenges, and Potential Solutions

American Journal of Hematology, EarlyView.
Key challenges in diagnosing anemia in high‐altitude populations include variability in hemoglobin (Hb) concentration, associated pathological conditions, altitude‐induced plasma volume changes, and environmental factors such as contamination and nutrition.
Ayoub Boulares, Nicola Luigi Bragazzi, Gustavo F. Gonzales, Paul Robach, Benoit Champigneulle, Julien V. Brugniaux, Emeric Stauffer, Elie Nader, Stéphane Doutreleau, Philippe Connes, Samuel Verges, Aurélien Pichon   +11 more
wiley   +1 more source