25 results on '"Abreu, Nicolas J."'
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2. Factors Associated With Underutilization of Genetic Testing in Autism Spectrum Disorders
3. Barriers to Genetic Testing Faced by Pediatric Subspecialists in Autism Spectrum Disorders
4. Rare predicted deleterious FEZF2 variants are associated with a neurodevelopmental phenotype.
5. Relapsing White Matter Disease and Subclinical Optic Neuropathy
6. CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing
7. Factors Associated with Underutilization of Genetic Testing in Autism Spectrum Disorders
8. Pearls & Oy-sters: CSF1R -Related Leukoencephalopathy With Spinal Cord Lesions Mimicking Multiple Sclerosis
9. Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review
10. Two cases of MT-ND5-related mitochondrial disorder misdiagnosed as seronegative neuromyelitis optica spectrum disorder
11. Deep Brain Stimulation for the Management of AIFM1-Related Disabling Tremor: A Case Series
12. Emerging Subspecialties in Neurology: Neurodevelopmental disabilities
13. Barriers to Genetic Testing Faced by Pediatric Subspecialists in Autism Spectrum Disorders
14. Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes
15. Onset and evolution of symptoms in CLN8 disease
16. The 50-M timed test as a simple, efficient and objective measure of gross motor function in CLN3 disease: A pilot study
17. Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction
18. Editorial commentary on “Gait Phenotype in Batten disease: A marker of disease progression”
19. Longitudinal MRI brain volume changes over one year in children with mucopolysaccharidosis types IIIA and IIIB
20. Book Review: Fragile X Syndrome and Premutation Disorders: New Developments and Treatments
21. Cerliponase alfa for CLN2 disease, a promising therapy
22. Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy
23. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2
24. Overview of gene therapy in spinal muscular atrophy and Duchenne muscular dystrophy.
25. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
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