Results 21 to 30 of about 1,141,952 (120)

Down syndrome and parity.

open access: yes, 1999
OBJECTIVE: To investigate the effect of parity on Down syndrome (DS). METHODS: The study was conducted on data from Northeast Italy (NEI) (1981-1996) and Sicily (ISMAC) (1991-1996) Congenital Malformation Registries.
Working Group on Down Syndrome   +4 more
core   +1 more source

Exploring face perception in disorders of development: evidence from Williams syndrome and autism [PDF]

open access: yes, 2008
Individuals with Williams syndrome (WS) and autism are characterized by different social phenotypes but have been said to show similar atypicalities of face-processing style.
Riby, Deborah   +2 more
core   +1 more source

Prevalence of Metabolic Syndrome in Psychiatric Inpatients: A Naturalistic Study [PDF]

open access: yes, 2010
The aim of this naturalistic survey was to measure the prevalence of metabolic syndrome by collating data on routine physical investigation in an acute psychiatric inpatient population.
Batugedara, Anuja   +4 more
core   +2 more sources

Scimitar syndrome in infancy [PDF]

open access: yes, 2008
Scimitar syndrome, if presenting in infancy, is associated with signs of heart failure and pulmonary hypertension. The typical pathological features are sequestration of a segment of the lung, usually the right lower lobe, with arterial supply ...
Sreeram, Narayanswami   +3 more
core  

Clinical manifestations of Deletion 22q11.2 syndrome (DiGeorge/Velo-CardioFacial syndrome) [PDF]

open access: yes, 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
core  

A case of neuroleptic malignant syndrome on withdrawal of benzhexol [PDF]

open access: yes, 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
core  

The development of metaphorical language comprehension in typical development and in Williams syndrome [PDF]

open access: yes, 2010
The domain of figurative language comprehension was used to probe the developmental relation between language and cognition in typically developing individuals and individuals with Williams syndrome.
Thomas, Michael S.C.   +8 more
core   +1 more source

Gastric pseudoaneurysm in the setting of Loey’s Dietz Syndrome [PDF]

open access: yes, 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.
core  

My Life, My Future - Evaluation of Down's Syndrome Scotland Life Story Project [PDF]

open access: yes, 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
core  

Aortic arch tortuosity with PHACE syndrome : a rare case scenario [PDF]

open access: yes, 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
core  

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