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Department of Clinical Haematology, Royal Manchester Children's Hospital, Manchester, UK Department of Genetic Medicine, St Mary's Hospital, Manchester, UK Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacolo
This article was published in the following journal.
Name: British journal of haematology
Chanarin-Dorfman syndrome (CDS) is an autosomal recessive disorder, characterized by intracellular accumulation of lipid droplets in most tissues. It is very difficult to find a correlation between th...
Hepatitis C virus (HCV) particles closely mimic human very-low-density lipoproteins (VLDL) to evade humoral immunity and to facilitate cell entry. However, the principles that govern HCV association w...
Rosai-Dorfman disease was commonly characterized as massive, painless, bilateral, symmetric cervical lymphadenopathy, with fever, leukocytosis, and elevated sedimentation rate. However, soft tissue Ro...
Simpson-Golabi-Behmel syndrome (SGBS) is a rare X-linked recessive overgrowth disorder with prominent craniofacial manifestations. Macrodontia is also an uncommon dental anomaly that can be an isolate...
The research project aims to try to answer the many questions raised by the identification of new early repolarization syndrome. The questions are varied with both taking optimal clinical ...
Primary Objective: -To assess the change in glycosylated hemoglobin (HbA1c) in uncontrolled Type 2 diabetes patients on OAD agent in Jordan after 6 months of treatment with basal insulin ...
This study will investigate Ebstein's anomaly, a congenital abnormality of the tricuspid valve of the heart and try to identify the genetic origins of the disease. Adults and children 2 y...
The objective of this study is to determine the safety and feasibility of autologous mononuclear cells (MNS) collected from bone marrow (BM) and using an add-on intramyocardial delivery fo...
Assessment of thoracic echography for pleuroparenchymatous anomaly diagnosis complicating bronchiolitis. Assessment has performed by radiographic exam.
A supernumerary rib developing from an abnormal enlargement of the costal element of the C7 vertebra. This anomaly is found in 1-2% of the population and can put pressure on adjacent structures causing CERVICAL RIB SYNDROME; THORACIC OUTLET SYNDROME; or other conditions.
Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Artificial substitutes for body parts, and materials inserted into tissue for functional, cosmetic, or therapeutic purposes. Prostheses can be functional, as in the case of artificial arms and legs, or cosmetic, as in the case of an artificial eye. Implants, all surgically inserted or grafted into the body, tend to be used therapeutically. IMPLANTS, EXPERIMENTAL is available for those used experimentally.
Work consisting of an acknowledgment of an error, issued by a publisher, editor, or author. It customarily cites the source where the error occurred, giving complete bibliographic data for retrieval. In the case of books and monographs, author, title, imprint, paging, and other helpful references will be given; in the case of journal articles, the author, title, paging, and journal reference will be shown. An erratum notice is variously cited as Errata or Corrigenda.
Pediatrics is the general medicine of childhood. Because of the developmental processes (psychological and physical) of childhood, the involvement of parents, and the social management of conditions at home and at school, pediatrics is a specialty. With ...