نتایج جستجو برای: p036

تعداد نتایج: 56  

Journal: :Journal of medical genetics 2004
D A Koolen W M Nillesen M H A Versteeg G F M Merkx N V A M Knoers M Kets S Vermeer C M A van Ravenswaaij C G de Kovel H G Brunner D Smeets B B A de Vries E A Sistermans

BACKGROUND Subtelomeric rearrangements contribute to idiopathic mental retardation and human malformations, sometimes as distinct mental retardation syndromes. However, for most subtelomeric defects a characteristic clinical phenotype remains to be elucidated. OBJECTIVE To screen for submicroscopic subtelomeric aberrations using multiplex ligation dependent probe amplification (MLPA). METHO...

Journal: :Sleep advances 2022

Abstract We have observed a phenomenon in some patients undergoing positive airway pressure implement/titration studies our sleep lab, characterised by periods of extremely high respiratory rates up to 80 breaths/min which appear be device triggered. These episodes occur during central apnoea and last 1.5-2.0 minutes. A possible related has been reported case series 4 published the Journal Clin...

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