Results 281 to 290 of about 737,277 (397)

Combining Multiple Dynamic Models and Deep Learning Architectures for Tracking the Left Ventricle Endocardium in Ultrasound Data

IEEE Transactions on Pattern Analysis and Machine Intelligence, 2013
G. Carneiro, J. Nascimento
semanticscholar   +1 more source

The Expanding Clinical and Genetic Spectrum of Muscle Glycogen Storage Disease 0, (GSD0B)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Glycogen storage disorders are a group of genetic disorders affecting glucose homeostasis in the body. Muscular glycogen stores are essential for liberating glucose for energy supply during bursts of activity and sustained muscle work. Muscle glycogen storage disease 0 (GSD0B) is associated with biallelic variants in GYS1 causing muscular ...
Sarah Donoghue, Smitha Kumble, Pontus Wasling, Lars Alberg, Pia Linton‐Dahlöf, Yilmaz Yildiz, İlker Ertuğrul, Terry Derks, Dwight Koeberl, Emmeline Lagrange, Sabrina Vergnaud, Lidia Pezzani, Maria Iascone, Zornitza Stark, Adam M. Bournazos, Sandra T. Cooper, Gittan Kollberg   +16 more
wiley   +1 more source

Silent misplacement: leadless pacemaker in the left ventricle discovered over a year later-How did it end up there? Could it explain the stroke? [PDF]

Oxf Med Case Reports
Shubietah A, Singh A, Qafisheh Q, Razminia P, Baniowda M, Assaassa A, Taha HI, Aljunaidi R.   +7 more
europepmc   +1 more source

Effect of Copy Number Variants on Outcomes for Infants With Single Ventricle Heart Defects

Circulation: Cardiovascular Genetics, 2013
A. S. Carey, L. Liang, J. Edwards, T. Brandt, Hui Mei, A. Sharp, D. Hsu, J. Newburger, R. Ohye, W. Chung, M. Russell, J. Rosenfeld, L. Shaffer, M. Parides, L. Edelmann, B. Gelb   +15 more
semanticscholar   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Cardiac lipoma-induced neonatal hypoxemia: a case report underscoring radiological diagnosis and a literature review. [PDF]

Radiol Case Rep
Al-Bitar A, Al Malla A, Redan L, Tellawi I, Al Helbawi H, Al-Dairy A.   +5 more
europepmc   +1 more source

Sanguineous Effusion into the Pons Varolii: Partial Recovery: Death from Effusion into One Ventricle [PDF]

Jennifer Russell
openalex   +1 more source

Displacement of mammillary bodies by craniopharyngiomas involving the third ventricle: surgical-MRI correlation and use in topographical diagnosis.

Journal of Neurosurgery, 2013
J. Pascual, R. Prieto, R. Carrasco, L. Barrios   +3 more
semanticscholar   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

Postoperative microcystic meningioma of the fourth ventricle with subsequent giant cell reparative granuloma: a case report. [PDF]

Front Oncol
Xu F, Fu C, Li Q, Dong F, Tang J, Wang C, Sun C.   +6 more
europepmc   +1 more source