8 results on '"Goizet, Cyril"'
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2. Major intra-familial phenotypic heterogeneity and incomplete penetrance due to a CACNA1A pathogenic variant
3. Atypical male and female presentations of FLNA-related periventricular nodular heterotopia
4. Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I
5. Lung disease associated with periventricular nodular heterotopia and an FLNA mutation
6. Atypical hematologic and renal manifestations in Neurofibromatosis type I: Coincidence or pathophysiological link?
7. Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: A recognizable microdeletion phenotype?
8. 1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype
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