14 results on '"Shankar, Suma"'
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2. Reported outcomes of 453 pregnancies in patients with Gaucher disease: An analysis from the Gaucher outcome survey
3. P384: A novel nonsense variant in the DMBX1 gene associated with neurodevelopmental delay: A case report of three siblings
4. P327: Congenital disorder of glycosylation type IIa with a novel phenotype of bilateral congenital glaucoma
5. Case 11.12.4 - Neurodevelopmental Cases: Autism Spectrum Disorder
6. P668: Automated identification and indexing of genes and variants using bidirectional encoder representation from transformers
7. P302: Clinical genome sequencing and targeted mouse modeling in nonverbal or minimally verbal individuals with autism spectrum disorders and neurodevelopmental delays
8. Contributors
9. Familial Cavitary Optic Disk Anomalies: Identification of a Novel Genetic Locus
10. Retinal dystrophies: A look beyond the eyes
11. Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features
12. Evaluation of Disease Burden and Response to Treatment in Adults with Type 1 Gaucher Disase Using a Validated DS3 Severity Score Index
13. Engage - a Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study to Investigate the Efficacy and Safety of Eliglustat in Adults with Gaucher Disease Type 1: Results after 18 Months
14. Engage: A Phase 3, Randomized, Double-blind, Placebo-controlled, Multi-center Study To Investigate The Efficacy and Safety Of Eliglustat In Adults With Gaucher Disease Type 1: 9 Month Results
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