Results 261 to 270 of about 288,749 (359)

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Correction: Kuypers et al. Evaluation of Neonatal Screening Programs for Tyrosinemia Type 1 Worldwide. <i>Int. J. Neonatal Screen.</i> 2024, <i>10</i>, 82. [PDF]

Int J Neonatal Screen
Kuypers AM, Bouva MJ, Loeber JG, Boelen A, Dekkers E, Petritis K, Pickens CA, The Isns Representatives, van Spronsen FJ, Heiner-Fokkema MR.   +9 more
europepmc   +1 more source

Effectiveness of neonatal screening for MCAD deficiency in Australia

, 2007

openalex   +2 more sources

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study. [PDF]

Int J Neonatal Screen
De Felipe B, Delgado-Pecellin C, Lopez-Lobato M, Olbrich P, Blanco-Lobo P, Marquez-Fernandez J, Salamanca C, Mendoza B, Castro-Serrano R, Duque C, Moreno-Prieto M, Madruga-Garrido M, Lucena JM, Fernandez RM, Ruiz-Camacho M, Varona A, Neth O.   +16 more
europepmc   +1 more source

Neonatal Jaundice Screening in Primary Care in Singapore: Utilization Patterns, Weight and Bilirubin Trajectories, and Comparative Outcomes of Nurse-Led Versus Routine Follow-up

Ling Jia Goh, Pek Hoon Tan, Alicia Gan
openalex   +1 more source

P-1185. Targeting and Universal Congenital Cytomegalovirus Screening in a Neonatal Intensive Care Unit [PDF]

Adriana Gonzalez Torriente, Tara M. Randis, Claudia Espinosa   +2 more
openalex   +1 more source

Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow. [PDF]

Int J Neonatal Screen
Donge M, Marie S, Pochet A, Marcelis L, Luis G, Boemer F, Prouteau C, Mesli S, Cuykx M, Nguyen-Khoa T, Guénet D, Empain A, Barth M, Dauriat B, Laroche-Raynaud C, De Laet C, Verloo P, Jonckheere AI, Schiff M, Nassogne MC, Dewulf JP.   +20 more
europepmc   +1 more source

Screening of Neonatal Calves for Persistent Infection with Bovine Viral Diarrhea Virus by Immunohistochemistry on Skin Biopsy Samples

, 2002
Daniel L. Grooms, Eric D. Keilen
openalex   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source