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Article
An approach to recognising and identifying metabolic presentations in the paediatric Irish Traveller population
The Irish Traveller population are an endogamous, traditionally nomadic, Irish population. Irish Travellers practice consanguinity in the majority of marriages, thus resulting in a higher rate of rare autosoma...
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Article
Open AccessDesigning rare disease care pathways in the Republic of Ireland: a co-operative model
Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical...
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Article
Northward establishment of the mediterranean mussel Mytilus galloprovincialis limited by changing climate
Throughout Europe the blue mussel Mytilus edulis is dominant in the north while the Mediterranean mussel Mytilus galloprovincialis prevails in the south. Studies from the 1970s to the late 2000′s documented the n...
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Article
Unexplained developmental delay/learning disability: guidelines for best practice protocol for first line assessment and genetic/metabolic/radiological investigations
Investigation of patients, particularly children, with unexplained global developmental delay (GDD)/learning disability (LD) has been challenging due to a lack of clear guidance from specialised centres. Limit...
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Article
Tissue targeting of the European flat oyster, Ostrea edulis, using microencapsulated microbeads as a biological proxy
Expansion of the aquaculture industry has been accompanied by outbreaks of disease from an ever increasing range of pathogens. Such outbreaks pose serious limitations to the growth and sustainability of the se...
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Article
Silicon with an increased content of monoatomic sulfur centers: Sample fabrication and optical spectroscopy
The effect of the high-temperature heating (at 1340°C) of sulfur-doped silicon samples and their subsequent quenching is studied. The results of such a treatment are analyzed on the basis of Hall-effect data o...
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Article
Case report: Unusual dental morphology in a child with ankyioblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome
BACKGROUND; Anomalies of dental anatomy are common in the ectodermal dysplasia syndromes. These anomalies, when found in combination with dental caries, can pose a restorative challenge for the p...
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Article
1094 BöRjeson - Forssman - Lehmann Syndrome: A Rare But Important Cause of Obesity
Background & Aims: Börjeson - Forssman - Lehmann Syndrome (BFLS) is a rare X-linked condition characterized by obesity and developmental delay. Only nineteen unrelated cases of BFLS, with confirmed PHF6 mutati...
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Article
Coherent control of Rydberg states in silicon
When an atom is excited into a 'Rydberg' state, its electronic wavefunction can extend from less than 0.1 nanometres to several nanometres or more. This process can be used to induce and coherently control int...
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Article
Inventory of benthic macroinvertebrates and zooplankton in several European Bonamia ostreae-endemic areas and their possible role in the life cycle of this parasite
Bonamia ostreae is a protozoan parasite of the native oyster, Ostrea edulis. The parasite can be transmitted directly from infected to uninfected oysters. Though direct transmission of th...
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Article
Towards a Si/SiGe Quantum Cascade Laser for Terahertz Applications
While electroluminescence has been demonstrated at terahertz frequencies from Si/SiGe quantum cascade emitters, to date no laser has been achieved due to poor vertical confinement of the optical mode. A method...
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Chapter
Terahertz Emission From Silicon-Germanium Quantum Cascades
Whilst most present day efforts towards the realisation of a silicon based laser are focused on the near-infrared (telecommunications) wavelengths, one of the most promising technical approaches is that of a s...
