Results 231 to 240 of about 1,090,092 (357)

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

Correction to: Atrial cardiomyopathy revisited-evolution of a concept: a clinical consensus statement of the European Heart Rhythm Association (EHRA) of the ESC, the Heart Rhythm Society (HRS), the Asian Pacific Heart Rhythm Society (APHRS), and the Latin American Heart Rhythm Society (LAHRS). [PDF]

Europace
europepmc   +1 more source

Pharmacological Cardioversion Versus Electrical Cardioversion in the Acute Treatment of Atrial Fibrillation in the Emergency Department: The Recufa-Hula Register. [PDF]

J Clin Med
López-Díaz JJ, López-Pena AM, Elices-Teja J, Johk-Casas CA, López-López A, Seoane-García T, Ríos-Vázquez R, González-Juanatey C.   +7 more
europepmc   +1 more source

Respiratory Rhythm in Malignant Hypertension [PDF]

, 1942
H. O. Gunewardene
openalex   +1 more source

The Multifaceted Etiology of Mental Disorders With a Focus on Trace Elements, a Review of Recent Literature

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Mental disorders are a significant global public health concern, affecting nearly one in eight individuals worldwide. This review investigates the multifaceted etiology of mental disorders—specifically major depressive disorder (MDD), schizophrenia (SCZ), and bipolar disorder (BD)—through genetic, neurobiological, and environmental ...
Maria Francesca Astorino, Marco Calabrò, Carmenrita Infortuna, Maria Rosaria Anna Muscatello, Silvana Briuglia, Nicola Cicero, Chiara Fabbri, Alessandro Serretti, Concetta Crisafulli   +8 more
wiley   +1 more source

Clinical Role of the Noninvasive Abdominal Fetal ECG in the Detection and Monitoring of Fetal Tachycardia. [PDF]

Circ Arrhythm Electrophysiol
Chivers S, Pini N, Chowdhury S, Cicci L, Vigneswaran T, Zidere V, Maxwell S, Moriarty G, Regan W, Rosenthal E, Lloyd DFA, Day TG, Miller OI, Sharland GK, Hayes-Gill B, Niederer S, Fifer WP, Williamson C, Simpson JM.   +18 more
europepmc   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones, Julie Park, Silothabo Dliso, Daniel B. Hawcutt, Alena Shantsila, Gregory Y. H. Lip, Joanne Blair   +6 more
wiley   +1 more source

Associations between sleep and circadian rhythm disruption and perinatal anxiety. [PDF]

NPJ Biol Timing Sleep
Cox RC.
europepmc   +1 more source

RESPIRATORY RHYTHM IN THE ELASMOBRANCH, SCYLLIUM CANICULA

, 1930
Brenton R. Lutz
openalex   +2 more sources

Understanding the Housing and Support Experience of People With Complex Disability in Australia: A Qualitative Analysis of Submissions to the Disability Royal Commission

Australian Journal of Social Issues, EarlyView.
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz, Fiona Carey, Libby Witts, Jessie Spence, Peter Mulherin, Megan Topping, Di Winkler, Jacinta Douglas   +7 more
wiley   +1 more source