Results 51 to 60 of about 1,134,764 (129)
Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome) [PDF]
, 2005 Deletion 22q11.2 syndrome (Del22) (DiGeorge/Velo-Cardio-Facial syndrome) is characterized by congenital heart defect (CHD), palatal anomalies, facial dysmorphisms, neonatal hypocalcemia, immune deficit, speech and learning disabilities. CHD is present
Marino, Bonnie +3 more
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, 2015 Objective: Naxos disease is an autosomal recessive, inherited, cardiocutaneous disorder, characterized by arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma.
Argun, Mustafa +6 more
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The experience of humour in Asperger’s syndrome [PDF]
, 2010 A Thesis submitted in fulfilment of the requirements of the University of Wolverhampton for the degree of Doctor of Counselling Psychology.This study investigated the experience of humour of people with Asperger’s syndrome.
Ruggeri, Susan
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Understandings of Down's syndrome and their place in the prenatal testing context [PDF]
, 2003 INTRODUCTION: There is a growing consensus that decisions about prenatal testing should a) be informed, and b) reflect the individual's attitudes and values.
Bryant, Louise Dorothy
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A case of neuroleptic malignant syndrome on withdrawal of benzhexol [PDF]
, 2010 The neuroleptic malignant syndrome is a rare and potentially lethal reaction which is usually associated with the use of medications with antidopaminergic properties.
Ferry, Peter +2 more
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Gastric pseudoaneurysm in the setting of Loey’s Dietz Syndrome [PDF]
, 2012 Loey’s Dietz syndrome is a disorder of connective tissue caused by a mutation in the genes that encode transforming growth factor (TGF) beta receptor 1 and 2.
Johston, Troy Alan, Likes, Maggie L.
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My Life, My Future - Evaluation of Down's Syndrome Scotland Life Story Project [PDF]
, 2019 Background My Life My Future project was developed and delivered by Down’s Syndrome Scotland as an enjoyable family activity with the aim of producing an output that can serve as a valuable communication tool now and in the future.
Mattheys, Kate, Watchman, Karen
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Fetal alcohol syndrome; guidelines for referral and diagnosis [PDF]
National Center on Birth Defects and Developmental Disabilities in coordination with National Task Force on Fetal Alcohol Syndrome and Fetal Alcohol Effect (American Academy of Pediatrics, American College of Obstetricians and Gynecologists, March of ...
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Epidermolysis bullosa simplex : new insights in desmosomal cardiocutaneous syndromes [PDF]
, 2010 Epidermolysis bullosa (EB) is a group of hereditary skin blistering disorders. EB children are also called “butterfly children” because of their fragile skin.
Bolling, Maria Caroline +1 more
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Aortic arch tortuosity with PHACE syndrome : a rare case scenario [PDF]
, 2016 PHACE syndrome is a rare neurocutaneous disorder characterised by an association of infantile haemangiomas with structural anomalies of brain, cerebral vasculature, eye, aorta and chest wall.1 Coarctation of aorta (COA) is most the common cardiac anomaly
Baidwan, A. +5 more
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