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Results Four novel deleterious homozygous TMEM70 mutations were identified. The previously described clinical spectrum was expanded to include infantile onset cataract, early onset gastrointestinal ...

Another complicating factor in the early assessment of the premature infant is the fluctuation or transient nature of muscle tone. The incidence of transient neurologic abnormalities ranges from ...

Hypertonia Abnormal increase in muscle tension and a reduced ability of a muscle to stretch, due to a neurological condition, such as cerebral palsy, brain injury or multiple sclerosis. Ataxia Lack of ...

Background: In healthy subjects, repetitive transcranial magnetic stimulation (rTMS) targeting the primary motor cortex (M1) demonstrated plasticity effects contingent on electroencephalography ...

Intraventricular haemorrhage and posthaemorrhagic ventricular dilatation remain an important challenge in the management of prematurity and are associated with significant permanent morbidity.

1 Department of Clinical Genetics, Addenbrooke’s Hospital, Cambridge, UK 2 Department of Medicine, University of Cambridge, Addenbrooke’s Hospital Correspondence to: Dr S M Park Department of Clinical ...