Results 51 to 60 of about 71,249 (306)
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena +13 more
wiley +1 more source
Journal of Dentistry Indonesia, 2015 Children development stage is determined by physical growth. The sequence of growing process is usually constant, however, the age at which children can reach a certain sequence varies individually.
Retno Widayati +2 more
doaj +1 more source
The Cervical Osteology of Okapia johnstoni and Giraffa camelopardalis. [PDF]
PLoS ONE, 2015 Giraffidae is the only family of ruminants that is represented by two extant species; Okapia johnstoni and Giraffa camelopardalis. Of these taxa, O. johnstoni represents a typical short-necked ungulate, and G.
Melinda Danowitz, Nikos Solounias
doaj +1 more source
Laminar avulsion in a cervical vertebra [PDF]
American Journal of Roentgenology, 1977 An unusual avulsion fracture involving the lamina of a cervical vertebra, most likely due to tear of a ligamentum flavum, is described. Its radiographic features may be quite subtle. Simulation of this fracture on dried skeleton allowed a better understanding of its appearance on the standard projections, its mechanism of occurrence, and its delayed ...
C V, Cimmino, D W, Scott
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline +3 more
wiley +1 more source
Why sauropods had long necks; and why giraffes have short necks [PDF]
, 2012 The necks of the sauropod dinosaurs reached 15 m in length: six times longer than that of the world record giraffe and five times longer than those of all other terrestrial animals.
Taylor, Michael P., Wedel, Mathew J.
core +5 more sources
Intraosseous pneumatocyst of the cervical vertebra [PDF]
Medical Journal Armed Forces India, 2015 Intraosseous pneumatocyst is a rare, asymptomatic, benign, air-containing entity that is usually discovered incidentally on imaging. These lesions are most often seen in the ilium and sacrum in the vicinity of the sacro-iliac joint. Despite its benign nature, awareness of this entity and its imaging characteristics is important to distinguish it from ...
Debraj, Sen +4 more
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij +5 more
wiley +1 more source
Equine models in translational medicine: A comparative approach to human health
Animal Models and Experimental Medicine, EarlyView.This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh +1 more
wiley +1 more source
A traitor's death? The identity of a drawn, hanged and quartered man from Hulton Abbey, Staffordshire [PDF]
, 2008 Analysis of a set of bones redeposited in a medieval abbey graveyard showed that the individual had been beheaded and chopped up, and this in turn suggested one of England's more gruesome I execution practices. Since quartering was generally reserved for
Lewis, Mary Elizabeth
core +1 more source