Results 171 to 180 of about 522,567 (316)

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy, Jesse Richards, Brooke R. Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma McGibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales   +16 more
wiley   +1 more source

Intracardiac Echo-Guided Papillary Muscle Premature Ventricular Complex/Ventricular Tachycardia Ablation

Indian Heart Journal
Selvamaheswari M, Sharon Jebamalar B, Usnish Adhikari, Deep Chandh Raja S   +3 more
doaj   +1 more source

Atrial fibrillation secondary to diffuse large B-cell lymphoma responding to corticosteroid treatment: a case report. [PDF]

Eur Heart J Case Rep
Martini L, Fabiani I, Grigoratos C, Passino C.   +3 more
europepmc   +1 more source

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Rhythm as a guide in linguistic processing: the effect of vibro-tactile rhythmic priming on acoustic language processing

openTra le modalità sensoriali, la percezione vestibolare, tattile e somatosensoriale svolge un ruolo cruciale nell’elaborazione ritmica precoce. Tuttavia, un numero limitato di studi fino ad oggi si è concentrato specificamente sui ritmi vibrotattili (
PUTIGNANO, ROBERTA
core  

Distinct Neuropsychiatric Profiles Associated With 17p11.2 Deletions and RAI1 Variants in Smith–Magenis Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc, Christophe Nemos, Céline Bonnet, Mathilde Renaud, Sandra Chapuis, Pauline Boiroux, Marie‐Noëlle Babinet, Caroline Demily   +7 more
wiley   +1 more source

P275: Risk factors correlating with MC4R pathway variants on genetic testing

Genetics in Medicine Open
Patrick Sleiman, Elliot Bromberg, Rick Norton, Jill Garrison   +3 more
doaj   +1 more source

Catheter ablation of typical atrial flutter in a patient with left ventricular assist device support: a case report. [PDF]

Egypt Heart J
Kaya A, Karaçam M, Kovancı T, Tanyeri Uzel S, Uslu A.   +4 more
europepmc   +1 more source

On the Prospects for African Philosophy in Australia

Australian Journal of Social Issues, EarlyView.
ABSTRACT This paper grapples with the situation of people of African descent in Australia by working through the constitution of the body of academic philosophy in the country. It contends with the parochialism of the Australian philosophical community and the prospects for the cultivation of greater pluralism. Taking African philosophy as one possible
Bryan Mukandi
wiley   +1 more source

Impact of Atrial Fibrillation on the Risk of Thrombosis and Bleeding for Patients With Polycythemia Vera and Essential Thrombocytosis in the Real World

American Journal of Hematology, EarlyView.
Rodrigo Ortega Perez, Luis Manuel Domínguez Rodríguez, Francisca Ferrer‐Marín, Beatriz Cuevas Ruíz, Clara Martínez Valverde, Patricia Vélez Tenza, María Isabel Mata Vázquez, Adrián Segura Díaz, María Laura Fox, Elvira Mora, Manuel Mateo Pérez Encinas, Mercedes Gasior Kabat, Gonzalo Carreño‐Tarragona, Rafael Andrés del Orbe, Gonzalo Caballero‐Navarro, Elena Magro Mazo, Ana Pardo Sanz, José Luis Zamorano Gómez, Alberto Álvarez Larrán, Valentín Garcia‐Gutierrez   +19 more
wiley   +1 more source