Results 191 to 200 of about 992,651 (390)
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 +16 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The TBX4 gene has a critical importance in the development of the lower limbs and lungs. Pathogenic variants in this gene are associated with a variable spectrum of skeletal anomalies of the lower limb and pneumological manifestations, with dominant or recessive inheritance.
Simone Carbonera +12 more
wiley +1 more source
Diplomates of the Subspecialty Board of Pediatric Cardiology of The American Board of Pediatrics, Inc., June 1965 [PDF]
, 1965 openalex +1 more source
A case study of technology transfer: Cardiology [PDF]
Research advancements in cardiology instrumentation and techniques are summarized. Emphasis is placed upon the following techniques: (1) development of electrodes which show good skin compatibility and wearer comfort; (2) contourography - a real time ...
Schafer, G.
core +1 more source