Results 231 to 240 of about 3,196,328 (354)

Artificial Intelligence Software Changes Rare Disease Testing Strategy in Real Time: An International Case Series Using Face2Gene

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic disorders commonly share features such as developmental delays, cognitive impairment, and behavioral challenges, yet many conditions also present unique dysmorphic features that distinguish them. Performing a thorough medical and family history and a detailed physical exam with attention to dysmorphic features is often the first step ...
Natasha L. Rudy, Adriana Gomes, Tinatin Tkemaladze, Omar Abdul‐Rahman, Drew Cratsenberg, Giulia Pascolini, Giovanni Di Zenzo, Daniele Castiglia, Emily Black, Camerun Washington, Lauren Chad, Cynthia Curry, Miguel Del Campo, Nicole Fleischer, Lynne M. Bird, Anna C. E. Hurst   +15 more
wiley   +1 more source

Editor's Choice - Current Options and Recommendations for the Treatment of Thoracic Aortic Pathologies Involving the Aortic Arch: An Expert Consensus Document of the European Association for Cardio-Thoracic Surgery (EACTS) & the European Society for Vascular Surgery (ESVS).

European Journal of Vascular and Endovascular Surgery, 2019
M. Czerny, J. Schmidli, S. Adler, J. C. van den Berg, L. Bertoglio, T. Carrel, R. Chiesa, R. Clough, B. Eberle, C. Etz, M. Grabenwöger, S. Haulon, H. Jakob, F. Kari, C. Mestres, D. Pacini, T. Resch, B. Rylski, F. Schoenhoff, M. Shrestha, H. von Tengg-Kobligk, K. Tsagakis, T. Wyss, Document Reviewers, N. Chakfé, S. Debus, G. D. de Borst, R. di Bartolomeo, J. Lindholt, Wei-Guo Ma, P. Suwalski, F. Vermassen, A. Wahba, M. C. Wyler von Ballmoos   +33 more
semanticscholar   +1 more source

Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero, Marco Antonio Hernández Lepe, José de Jesús Manríquez Torres, Diego Daniel Aguirre‐Gómez, Natsuo Hayashi‐Mercado, Genaro Rodríguez Uribe, Tadeo Cerón, María Ruiz‐Gamboa, Jesús Alonso Gándara‐Mireles, Ismael Lares‐Asseff, Verónica Loera‐Castañeda, Jorge Alvelais‐Palacios, Lucrecia Arzamendi‐Cepeda, Lidia Magdalena Castañeda‐González, Adolfo García‐Barrón, Francisco Yamal Quiroz Herrera, Francisco González‐Salazar, Horacio Almanza‐Reyes   +17 more
wiley   +1 more source

Chylothorax After Thoracic Surgery: How We Manage It. [PDF]

Thorac Cancer
Busetto A, Cannone G, Lione L, Bonis A, Verzeletti V, Battistel M, Rebusso A, Nicotra S, Dell'Amore A, Rea F.   +9 more
europepmc   +1 more source

Poland Anomaly and Atretic Cephalocele in the Same Child: Coincidence or Association?

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Poland Anomaly is a rare congenital disorder typically characterized by hypoplasia or agenesis of pectoral muscle with or without ipsilateral limb hypoplasia. The association of central nervous system malformation with Poland Anomaly has been rarely reported and includes craniofacial dysplasia, microcephaly, and Dandy‐Walker malformation ...
Alessandra Greta Grassi, Silvia Pontesilli, Laura Demelas, Francesca Vigliani, Massimo Agosti, Angelo Selicorni   +5 more
wiley   +1 more source

Intrathecal Morphine in Major Abdominal and Thoracic Surgery: Observational Study. [PDF]

Healthcare (Basel)
González-Santos S, Osorio-López A, Mugabure-Bujedo B, González-Jorrín N, Abad-Motos A, Ruiz-Montesinos I, Herreros-Pomares A, Granell-Gil M.   +7 more
europepmc   +1 more source

LIST OF MEMBERS* OF THE AMERICAN ASSOCIATION FOR THORACIC SURGERY, 1964-65

, 1964

openalex   +1 more source

REHABILITATION IN THORACIC SURGERY

Journal of Thoracic Surgery, 1952
Walter N. Goodman, Howard A. Rusk, Albert Haas   +2 more
openaire   +3 more sources

Robotic surgery, video-assisted thoracic surgery, and open surgery for early stage lung cancer: comparison of costs and outcomes at a single institute.

Journal of Thoracic Disease, 2018
P. Novellis, E. Bottoni, E. Voulaz, U. Cariboni, A. Testori, L. Bertolaccini, L. Giordano, E. Dieci, L. Granato, E. Vanni, M. Montorsi, M. Alloisio, G. Veronesi   +12 more
semanticscholar   +1 more source

Current Nationwide Landscape of Cardiac Surgery for Children With Trisomy 18 in Japan

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Despite the increasing number of retrospective cohorts describing successful cardiac surgery for children with trisomy 18, no consensus has been reached among healthcare providers regarding cardiac surgery in Japan. This study provided a benchmark to facilitate consensus building by assessing a nationwide surgical database in Japan. A total of
Shintaro Nemoto, Hisateru Tachimori, Tomoki Kosho, Kanta Kishi, Noboru Motomura, Yasutaka Hirata   +5 more
wiley   +1 more source