Results 221 to 230 of about 178,713 (349)

Comparative Diagnostic Assessment of Karyotyping, Microarray, and Whole Exome Sequencing in Genetically Associated Fetal Growth Restriction. [PDF]

Diagnostics (Basel)
Luo L, Chen C, Cheung CKY, Li Y, Dai X, Zeng T, Wang Y.   +6 more
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

Whole exome sequencing analysis of susceptibility loci in transgender individuals. [PDF]

Sex Med
Liu N, Bai J, Huang N, Xu Y, Long X, Hu X, Wu J, Liu F, Lu Z.   +8 more
europepmc   +1 more source

A whole exome sequencing-based panel assay with boosted clinical content generates a high diagnostic yield in patients with inherited eye diseases

, 2019
Kati Kämpjärvi, Kirsty Wells, Miika Mehine, Johanna Känsäkoski, Laura Sarantaus, Hanna Västinsalo, Jennifer Schleit, Inka Saarinen, Mikko Muona, Samuel Myllykangas, Tero‐Pekka Alastalo, Juha Koskenvuo, Jussi Paananen, Sari Tuupanen   +13 more
openalex   +1 more source

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients [PDF]

, 2018
Jakub Fichna, Anna Macias, Marcin Piechota, Michał Korostyński, Anna Potulska‐Chromik, Maria Jolanta Rędowicz, Cezary Żekanowski   +6 more
openalex   +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

Genetic analysis of fetal skeletal dysplasia via whole exome sequencing and non-invasive prenatal diagnosis. [PDF]

Ann Med
Wang L, Zhang Y, Zheng F, Dong H, Zhu X, Jia C, Zhang B.   +6 more
europepmc   +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

Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases. [PDF]

Front Med (Lausanne)
Ge Y, Yuan H, Yu Y, Xiao J, Liu D, Peng Y, Liu Y, Huang S, Yang B, Zou Y, Liu Y.   +10 more
europepmc   +1 more source

Pediatric intestinal pseudo‐obstruction found in 3‐year‐old male with Rett‐related mutation of methyl‐CpG binding protein 2

JPGN Reports, EarlyView.
Abstract A 3‐year‐old male with chronic abdominal distention, constipation, and severe malnutrition is diagnosed with pediatric intestinal pseudo‐obstruction (PIPO) after extensive evaluation that excluded mechanical, malabsorptive, metabolic, inflammatory, and infectious causes. Aside from speech delay, he has a normal neurologic exam.
Angela Tran, Namrata Patel‐Sanchez
wiley   +1 more source