Results 241 to 250 of about 1,745,305 (360)

Genomic Contributors to Congenital Diaphragmatic Hernia: Results of Exome Sequencing in 560 Probands and Cross Reference of Findings in an Independent Cohort

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT There is a strong genetic contribution to the etiology of congenital diaphragmatic hernia (CDH). This study evaluated genetic testing results and diagnostic yield for fetuses and children with CDH. This was a retrospective cohort study of exome sequencing (ES) performed at GeneDx for fetuses and children ≤ 18 years of age with CDH compared ...
Justin Blair, Kevin Carratu, Natalie E. Rintoul, Holly L. Hedrick, William H. Peranteau, Catherine M. Avitabile, Kirsty McWalter, Paul Kruszka, Ian D. Krantz, K. Taylor Wild   +9 more
wiley   +1 more source

Machine learning in predicting failures of buried water supply networks affected by mining impacts. [PDF]

Sci Rep
Chomacki L, Rusek J, Słowik L.
europepmc   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Community-US trade relations. Speech by Commissioner Ivor Richard to the Carl Duisborg Society. New York, 21 September 1982 [PDF]

, 1982
Richard, Ivor.
core  

Cancer therapy‐induced ototoxicity: Current challenges and emerging management strategies

Animal Models and Experimental Medicine, EarlyView.
This review comprehensively examines the key risk factors for cancer therapy‐induced ototoxicity, including cumulative drug dose, genetic susceptibility, and combined treatment regimens. It highlights current challenges in ototoxicity monitoring, such as insufficient timeliness and limited clinical adoption, and advocates for standardized auditory ...
Yuqi Huang, Baoying Xu, Xinru Chen, Yu Chen, Dehong Yu   +4 more
wiley   +1 more source

Humanized immune system animal models and their recent applications

Animal Models and Experimental Medicine, EarlyView.
In this review, we provide an updated and comprehensive overview of the current state of humanized immune system animal model research. We discuss the variety of techniques used to produce humanized mice with their respective strengths and weaknesses, and evaluate the advantages and limitations of these models, including issues with incomplete immune ...
Nicolas Skuli, Rudra B. Amin, A’ishah Bakayoko, Marisa Kruidenier, Sahara Aqui, Sarah J. Skuli, Terence P. Gade   +6 more
wiley   +1 more source

Image-processing pipeline for diagnosing diabetic macular ischaemia in diabetic macular oedema. [PDF]

Sci Rep
Xiong X, Habib M, Steel DH, Yamaguchi CT, Peto T, Obara B.   +5 more
europepmc   +1 more source

A Practical Approach to Constant Head Drip Chlorination Using an Outlet Controlled System [PDF]

, 2017
Lewis, Joanna Marie
core   +1 more source

Methane Pyrolysis Performance in Catalytic Molten Media for Hydrogen Production From the Perspective of Bubble Column Reactor Design and Configuration

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT In the hydrogen production routes from natural gas (methane), methane pyrolysis offers a cleaner option than the established steam methane reforming by producing CO2‐free hydrogen. However, in fixed bed reactors over solid catalysts, this technology experiences rapid catalyst deactivation due to carbon (coke) deposition encapsulating its ...
Muhammad Irfan Fakarudin, Luqmanulhakim Baharudin, Matthew J. Watson, Wan Nor Roslam Wan Isahak   +3 more
wiley   +1 more source

Optimizing unsupervised clustering of electrochemical impedance spectra via normalization and dimensionality reduction. [PDF]

Sci Rep
Martinez S, Bera I, Martinez I, Šoić I.   +3 more
europepmc   +1 more source