Paroxysmal intracranial hypertension and oculoauriculovertebral dysplasia

Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?

European journal of medical genetics·2021

Development, behaviour and sensory processing in Marshall-Smith syndrome and Malan syndrome: phenotype comparison in two related syndromes.

Journal of intellectual disability research : JIDR·2020

Awake Flexible Fiberoptic Laryngoscopy to diagnose glossoptosis in Robin Sequence patients.

Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery·2015

A de novo mutation in ZMYND11, a candidate gene for 10p15.3 deletion syndrome, is associated with syndromic intellectual disability.

European journal of medical genetics·2014

The IGSF1 deficiency syndrome: characteristics of male and female patients.

The Journal of clinical endocrinology and metabolism·2013