11 results on '"Whalen, Sandra"'
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2. Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations
3. GGPS1‐associated muscular dystrophy with and without hearing loss
4. Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum
5. Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly
6. Variant recurrence confirms the existence of a FBXO31 ‐related spastic‐dystonic cerebral palsy syndrome
7. Further delineation of the phenotypic spectrum associated with hemizygous loss‐of‐function variants in NONO
8. Diagnosis and management in Pitt‐Hopkins syndrome: First international consensus statement
9. Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations
10. How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome
11. Association of periventricular nodular heterotopia with posterior fossa cyst: a prenatal case series.
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