Results 81 to 90 of about 2,212,500 (210)
The Evolving Landscape of CHD Genetics: A Contemporary Guide to Genetic Testing and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Congenital heart disease (CHD) is the most common birth defect, affecting an estimated 9.4/1000 infants globally. The genetics of CHD is complex, with most cases thought to have multifactorial aetiology, implicating both genetic and environmental factors.
Bridget R. O'Malley +3 more
wiley +1 more source
Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects. [PDF]
Mol Genet Genomic Med, 2022 Cui X +5 more
europepmc +1 more source
JIMD Reports, Volume 67, Issue 5, September 2026.ABSTRACT Fructose‐1,6‐bisphosphatase deficiency is a rare inherited metabolic disorder of gluconeogenesis characterized by recurrent hypoglycemia and lactic acidosis, typically triggered by inadequate glucose intake or increased consumption of fructose, sucrose, or sorbitol.
Raashda A. Sulaiman +6 more
wiley +1 more source
Genetic Counselling and Prenatal Diagnosis in a Case of Harlequin Ichthyosis: A Novel ABCA12 Gene Mutation [PDF]
Journal of Clinical and Diagnostic ResearchHereditary diseases are disorders that mainly result from mutations or changes in Deoxyribonulciec Acid (DNA), Ribonucleic Acid (RNA), or chromosomes, which impact the overall and physical welfare of an individual.
Shreya Singh +3 more
doaj +1 more source
Cochlear Implantation in Autoimmune Inner‐Ear Disease: Outcome and Patient‐Reported Benefit
The Laryngoscope, Volume 136, Issue 9, Page 3980-3989, September 2026.This study demonstrates that patients with secondary autoimmune inner‐ear disease (AIED) achieve significant improvements in speech perception and quality of life following cochlear implantation. Although AIED patients may show slightly lower performance in noisy environments compared to controls, their subjective hearing benefit converges with matched
Merete Hartmann +4 more
wiley +1 more source
Amino Acid Metabolism in Health and Disease
MedComm, Volume 7, Issue 9, September 2026.This graphical abstract delineates the multifaceted role of amino acid metabolism in health and disease. It illustrates how amino acids sustain physiological homeostasis across the liver, kidney, brain, heart, intestine, muscle, skeleton, and immune system.
Zhiwei Su +7 more
wiley +1 more source
Preimplantation Genetic Diagnosis in Marfan Syndrome
Case Reports in Obstetrics and Gynecology, 2013 Marfan syndrome (MFS) is a systemic hereditable disorder of the connective tissue with mainly cardiovascular manifestations, such as aortic dilatation and dissection.
N. F. Vlahos +4 more
doaj +1 more source
Prenatal Diagnosis, Volume 46, Issue 10, Page 1637-1647, September 2026.ABSTRACT Objective To review the published literature on prenatal findings of COL2A1‐related SEDC, summarizing reported imaging and molecular variants, and to describe two additional prenatal cases evaluated at a tertiary referral center. Method A narrative review with a systematic search strategy was conducted to analyze prenatal imaging findings ...
López‐Rodríguez Larissa +10 more
wiley +1 more source
Innovations in assisted reproductive technologies: evaluating efficacy, safety, and long-term outcomes in female infertility [PDF]
Obstetrics & Gynecology ScienceThis narrative review evaluates innovations in assisted reproductive technology (ART) for female infertility, focusing on efficacy, safety, and long-term outcomes.
Hakimeh Akbari
doaj +1 more source
Prenatal Genomics for Sonographers: Enhancing Confidence, Communication, and Clinical Care
Sonography, Volume 13, Issue 3, September 2026.To access CPD test for this article click here: https://www.sonographers.org/account/login?returnUrl=/cpds/Prenatal_genomics_for_sonographers. ABSTRACT Genomic medicine is advancing rapidly, bringing significant changes to prenatal care and expanding the role of health professionals.
Deborah Wye +2 more
wiley +1 more source