42 results on '"Battaloglu, Esra"'
Search Results
2. Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
3. Clinical and genetic features of PKAN patients in a tertiary centre in Turkey
4. Genotypic And Phenotypic Features of Patients with GJB1 Mutations: Single Center Experience (P11-8.003)
5. Single Center Experience of SORD Neuropathy in Turkey (P1-1.Virtual)
6. Central Nervous System Involvement in HINT1 Neuropathy: An Overlooked Phenotypical Feature? (P8-13.001)
7. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
8. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive charcot-marie-tooth type 4C neuropathy
9. Genetic spectrum of hereditary neuropathies with onset in the first year of life
10. Nerve conduction studies in Charcot–Marie–Tooth disease in a cohort from Turkey
11. A multicenter retrospective study of charcot‐marie‐tooth disease type 4B (CMT4B) associated with mutations in myotubularin‐related proteins (MTMRs)
12. Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family
13. Autosomal Recessive Charcot-Marie-Tooth Disease in Turkey (P3.4-034)
14. SIK2 attenuates proliferation and survival of breast cancer cells with simultaneous perturbation of MAPK and PI3K/Akt pathways
15. Clinical and Genetic Features in X-Linked Charcot-Marie-Tooth Neuropathy (CMT-X) Patients from Turkey (P1.451)
16. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability
17. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability
18. Neonatal Nav1.5 protein expression in normal adult human tissues and breast cancer
19. MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability
20. CHARCOT-MARIE-TOOTH DISEASE IN TURKEY: CLINICAL AND GENETIC FINDINGS FROM A SINGLE-CENTRE EXPERIENCE (P5.134)
21. Unraveling The Genetic Landscape Of Autosomal Recessive Charcot-Marie-Tooth Neuropathies Using A Homozygosity Mapping Approach
22. Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing
23. Clinical and Genetic Heterogeneity in Charcot-Marie-Tooth Neuropathy Type 2 Patients from Turkey (P5.024)
24. Combination of myotonic dystrophy and hereditary motor and sensory neuropathy
25. A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases
26. Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies
27. Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4D
28. Genetic spectrum of hereditary neuropathies with onset in the first year of life
29. Hereditary neuropathy with liability to pressure palsy (HNPP) in childhood: A case study emphasizing the relevance of detailed electrophysiological examination for suspected HNPP in the first decade
30. A Multiplexed ARMS-PCR Approach for the Detection of Common MECP2 Mutations
31. Ultrasonographic findings in hereditary neuropathy with liability to pressure palsies.
32. Voltage-Gated Sodium Channel Expression and Potentiation of Human Breast Cancer Metastasis
33. Motor protein mutations cause a new form of hereditary spastic paraplegia.
34. Two novel mutations in the MPZ gene coding region in Charcot-Marie-Tooth type 1 patients of Turkish origin: S54P, [I30del; GVYI29ins]
35. Hereditary neuropathy with liability to pressure palsy: the clinical and electrophysiological features of four families.
36. A LARGE FAMILY WITH CHARCOT-MARIE-TOOTH TYPE 1A AND TYPE 2 DIABETES MELLITUS.
37. Exonic duplication CNV of NDRG1associated with autosomal-recessive HMSN-Lom/CMT4D
38. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)
39. Screening of spastin, atlastin, NIPA1 and REEP1 genes in hereditary spastic paraplegia (HSP) patients
40. Neonatal Nav1.5 protein expression in normal adult human tissues and breast cancer.
41. Clinicopathological and genetic study of early-onset demyelinating neuropathy.
42. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
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