Results 141 to 150 of about 125,718 (243)

Impact of National Screening Programs on Down syndrome prevalence and outcomes

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 4, Page 613-620, April 2026.
Over the past two decades, pregnancies with DS, prenatal diagnosis, and subsequent terminations have increased. Yet, the proportion continuing pregnancy after diagnosis and the prevalence of live‐ and stillbirths with DS have remained stable throughout the same period.
Cecilie Bryn Nordklev, Denise Reis Costa, Roy Miodini Nilsen, Nils‐Halvdan Morken, Siri Vangen, Vasilis Sitras   +5 more
wiley   +1 more source

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, Volume 109, Issue 4, Page 707-716, April 2026.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly–Macrocephaly Syndrome

Clinical Genetics, Volume 109, Issue 4, Page 788-795, April 2026.
We identified a recurrent heterozygous MAX c.179G>A:p.Arg60Gln variant in two unrelated females affected with the emerging phenotypes of MAX‐associated polydactyly‐macrocephaly syndrome. We propose that genitourinary abnormalities, including Mayer–Rokitanski–Kuster–Hauser syndrome in one individual, are an expansion of the known phenotypes associated ...
Iftekhar A. Showpnil, Neta Feinstein‐Goren, Lior Greenbaum, Ortal Barel, Daniel C. Koboldt, Samantha A. Brugmann, Kathryn Nicole Weaver, Anne Slavotinek, Ben Pode‐Shakked, Rolf W. Stottmann   +9 more
wiley   +1 more source

The Importance of Codetermination for Gender Diversity in the Boardroom

Industrial Relations: A Journal of Economy and Society, Volume 65, Issue 2, Page 121-131, April 2026.
ABSTRACT This study examines the interplay of codetermination law and board gender quotas using novel board‐director panel data for Norway. We present descriptive evidence suggesting that boards with employee representatives on boards of directors were more gender diverse before the gender quota. Difference‐in‐differences estimation results reveal that
Astrid Kunze, Katrin Scharfenkamp
wiley   +1 more source

Association of the Systemic Inflammation Response Index with the One-Year All-Cause Mortality in Elderly Patients with Acute Coronary Syndrome: A Retrospective Cohort Study. [PDF]

J Inflamm Res
Li J, Wei W, Xiao L, Luo N, Kang Y, Chen L, Zeng Y, Zhang L, Chen M.   +8 more
europepmc   +1 more source

What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study

Journal of Intellectual Disability Research, Volume 70, Issue 4, Page 403-416, April 2026.
ABSTRACT Background Improving care and research for individuals with genetic intellectual disabilities (GID) requires the identification and measurement of relevant patient reported outcomes (PROs). PROs represent the patient perspective on their health status.
Nadia Y. van Silfhout, Maud M. van Muilekom, Leonie A. Menke, Clara D. van Karnebeek, Lotte Haverman, Agnies M. van Eeghen   +5 more
wiley   +1 more source

The role of systemic inflammatory response index in predicting myocardial infarction in patients with unstable angina. [PDF]

Front Cardiovasc Med
Yang Z, Li S, Wang T, Zhao X, Wang F, Zhang X, Chen Y.   +6 more
europepmc   +1 more source

An Overview of Deep Learning Techniques for Big Data IoT Applications

International Journal of Communication Systems, Volume 39, Issue 4, 10 March 2026.
Reviews deep learning integration with cloud, fog, and edge computing in IoT architectures. Examines model suitability across IoT applications, key challenges, and emerging trends Provides a comparative analysis to guide future deep learning research in IoT environments.
Gagandeep Kaur, Vipin Balyan, Sindhu Hak Gupta   +2 more
wiley   +1 more source

Systemic inflammatory response index is associated with acute kidney injury following cardiac surgery: A retrospective cohort study using the MIMIC database. [PDF]

PLoS One
Xie H, Zheng K, Wang K, Zhao Z, Si R, Xiao J, Yin Y, Zhu X.   +7 more
europepmc   +1 more source

Author Correction: Targeting of lipid metabolism with a metabolic inhibitor cocktail eradicates peritoneal metastases in ovarian cancer cells

Communications Biology
Rain R. Chen, Mingo M. H. Yung, Yang Xuan, Shijie Zhan, Leanne L. Leung, Rachel R. Liang, Thomas H. Y. Leung, Huijuan Yang, Dakang Xu, Rakesh Sharma, Karen K. L. Chan, Siew-Fei Ngu, Hextan Y. S. Ngan, David W. Chan   +13 more
doaj   +1 more source