23 results on '"Chardon, Jodi Warman"'
Search Results
2. VERY LATE-ONSET SANDHOFF DISEASE PRESENTING AS KENNEDY DISEASE
3. Deletion of Filamin A in Two Female Patients With Periventricular Nodular Heterotopia†
4. MYO-MRI diagnostic protocols in genetic myopathies
5. Report on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy – September 24–26, 2015, Ottawa, Canada
6. Exome sequencing and targeted analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
7. Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes
8. Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy
9. Report on the 4th Ottawa International Conference on Neuromuscular Disease and Biology – September 5–7, 2017, Ottawa, Canada
10. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events
11. A crucial first randomized controlled trial of thymectomy in non-thymomatous myasthenia gravis
12. Autoimmune peripheral neuropathies
13. The Role of Muscle Imaging in the Diagnosis and Assessment of Children with Genetic Muscle Disease.
14. Recent Advances in the Genetic Etiology of Brain Malformations
15. Reliability and the validity of the physiotherapy functional mobility profile questionnaire
16. The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome.
17. Exome Sequencing as a Diagnostic Tool for Pediatric-Onset Ataxia.
18. 15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder
19. Teaching Video Neuro : Trapezius muscle hypertrophy in multifocal motor neuropathy.
20. Amyloid Neuropathy Following Domino Liver Transplantation: Response to Diflunisal.
21. Marked enlargement of neck circumference from nerve hypertrophy in CIDP.
22. Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
23. Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
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