Results 181 to 190 of about 843,641 (407)
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 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 +6 more
wiley +1 more source
Case Reports in Obstetrics and Gynecology, 2014 Case Reports in Obstetrics and Gynecology
doaj +1 more source
BU Medical Center press release [PDF]
, 1991 Press release from the Boston University Medical ...
Boston University Medical Center, Office of Media Relations
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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
Retracted: Extreme Anemia (Hemoglobin 1.8 g/dL) Secondary to Abnormal Uterine Bleeding
Case Reports in Obstetrics and Gynecology, 2019 Case Reports in Obstetrics and Gynecology
doaj +1 more source