Results 271 to 280 of about 237,110 (353)

Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients. [PDF]

Mol Cytogenet
Abdelfattah AS, Saleh MA.
europepmc   +1 more source

Transforming healthcare with large language models: Current applications, challenges, and future directions—a literature review

Journal of Intelligent Medicine, EarlyView.
Abstract AI‐based large language models (LLMs) have gradually made their way into various fields, transforming industries and changing the way we solve problems. LLMs have great potential in healthcare, where they can share the burden of data management, retrieval, and decision‐making.
Muhammad Umar, Vanessa Ali, Laiba Shamim, Imshaal Musharaf, Rabia Hafsa, Muhammad Umar Ahsan, Osama Ahmad, Lamea Bint Sabhan, Muhammad Saeed, Somaiya Ahmed, Sana Iftikhar, Noor Ul Ain   +11 more
wiley   +1 more source

MODY Is Prevalent in Later-Onset Diabetes and Has Potential for Targeted Therapy but Is Challenging to Identify. [PDF]

Diabetes
Sharp LN, Mirshahi UL, Colclough K, Hall TS, Haley JS, Cannon SJ, Laver TW, Weedon MN, Hattersley AT, Carey DJ, Patel KA.   +10 more
europepmc   +1 more source

Acute severe cholestatic hepatitis and lymphopenia characterize pediatric hepatitis‐associated aplastic anemia

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Hepatitis‐associated aplastic anemia (HAAA) is described as acute severe hepatitis of unknown origin followed by bone marrow failure (BMF). We aimed to provide a comprehensive picture of pediatric HAAA. Methods Two‐center retrospective analysis was performed using data from children diagnosed with acquired BMF, including severe ...
Daniel Tegtmeyer, Sofia Tsaka, Kai Lehmberg, Michaela Höfs, Jan Beime, Andrea Briem‐Richter, Jun Oh, Elke Lainka, Sebastian Schulz‐Jürgensen   +8 more
wiley   +1 more source

A systematic analysis of contemporary whole exome sequencing capture kits to optimise high-coverage capture of CCDS regions. [PDF]

NAR Genom Bioinform
López FV, Ashton JJ, Cheng G, Ennis S.
europepmc   +1 more source

P715: Analyzing performance of the Twist exome with CNV backbone at various probe densities leveraging Golden Helix VS-CNV [PDF]

Nathan Fortier, Tina Han, Alessandro Davassi, Alonzo Lee, Tanya Tannous, Gabe Rudy, Andreas Scherer   +6 more
openalex   +1 more source

Clinical, manometric, genetic, and histologic associations in pediatric intestinal pseudo‐obstruction: A case series

Journal of Pediatric Gastroenterology and Nutrition, EarlyView.
Abstract Objectives Pediatric intestinal pseudo‐obstruction (PIPO) is a severe bowel motility disorder characterized by impaired propulsion of gastrointestinal contents without mechanical obstruction. PIPO encompasses congenital and acquired disorders, including neuropathies, myopathies, and mesenchymopathies.
Sharon Wolfson, Myra Butrviengpunt, Naomi Tjaden, Alain J. Benitez, Archana S. Kota, Jennifer Webster, Prasanna Kapavarapu, Hayat Mousa, Robert O. Heuckeroth   +8 more
wiley   +1 more source

Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in the <i>SPTB</i> gene that causes hereditary spherocytosis with hemolytic anemia. [PDF]

Front Genet
Cao K, Luo X, Liu L, Mao X, Liu R, Chen Y, Banerjee S.   +6 more
europepmc   +1 more source

Attitudes of African Americans Toward Return of Results From Exome and Whole Genome Sequencing

, 2013
Joon‐Ho Yu, Julia M. Crouch, Seema M. Jamal, Holly K. Tabor, Michael J. Bamshad   +4 more
openalex   +1 more source