19 results on '"Forman, Eva"'
Search Results
2. The natural history of moderate-severe ventriculomegaly: A review of cases managed expectantly in an Irish tertiary Centre
3. Fifteen-minute consultation: Approach to investigation and management of childhood dystonia
4. X-linked infantile spinal muscular atrophy (SMAX2) caused by novel c.1681G>A substitution in the UBA1 gene, expanding the phenotype
5. Increased Ca2+ signaling in NRXN1α+/− neurons derived from ASD induced pluripotent stem cells
6. “No-No” Head Tremor—A Nod to the Diagnosis
7. P594 ‘Two’s company’. Transitioning from one to two on-call registrars in an Irish Paediatric tertiary hospital, the non-consultant hospital doctor’s perspective
8. OC48 Re-interrogation of whole exome sequencing data in developmental epileptic encephalopathies
9. P496 X- linked infantile spinal muscular atrophy (smax2) caused by novel c.1681g>a substitution in the uba1 gene, expanding the phenotype
10. FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum
11. NRXN1 deletion syndrome; phenotypic and penetrance data from 34 families
12. Dramatic Improvement of a Rare Syndrome With High Dose Riboflavin Treatment
13. Status dystonicus due to missense variant in ARX: Diagnosis and management
14. Interferonopathies in laboratory-negative suspected congenital infection
15. Cost of exome sequencing in epileptic encephalopathy: is it ‘worth it’?
16. Noninvasive continuous cardiac output and cerebral perfusion monitoring in term infants with neonatal encephalopathy: assessment of feasibility and reliability
17. Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype
18. Left ventricular rotational mechanics in infants with hypoxic ischemic encephalopathy and preterm infants at 36 weeks postmenstrual age: A comparison with healthy term controls
19. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.