Results 241 to 250 of about 1,438,821 (387)

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

Length of hospital stay following elective abdominal aortic aneurysm repair

, 1998
United Kingdom Small Aneurysm Trial Participants
openalex   +1 more source

Questioning the Role of Psoas Measurements: Limited Predictive Value for Outcomes After Aortic Repair. [PDF]

J Clin Med
Halman J, Szydłowska K, Znaniecki Ł, Wojciechowski J.   +3 more
europepmc   +1 more source

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim, Kristen N. Lee, Amanda B. Pritchard   +2 more
wiley   +1 more source

Elective Repair of Type IV Thoraco-abdominal Aortic Aneurysms; Experience of a Subcostal (Transabdominal) Approach

, 1999
Marcus Brooks, Andrew W. Bradbury, H.N Wolfe   +2 more
openalex   +1 more source

Aortic atresia with a ventricular septal defect: modified single-stage neonatal biventricular repair [PDF]

, 1999
Michael D. Black, J F Smallhorn, Robert M. Freedom   +2 more
openalex   +1 more source

Open Aortic Repair After Thoracic Endovascular Aortic Repair: Strategic Insights From a Single Centre Surgical Experience. [PDF]

EJVES Vasc Forum
Iba Y, Nakajima T, Nakazawa J, Shibata T, Miura S, Kawaharada N.   +5 more
europepmc   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Management and outcomes of open and endovascular aortic repair with blunt traumatic aortic injuries in Western Australia. [PDF]

J Trauma Inj
Jiwani A, Raymond WD, Picazo-Pineda F, Rao S, Sieunarine K.   +4 more
europepmc   +1 more source

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava, Melissa L. Crenshaw, Ivonne Bedei, Marisol Soto, Andréa T. Maciel‐Guerra, Anne Skakkebæk   +5 more
wiley   +1 more source