E-LIB Suche - Ergebnisse für: Baskar, Dipti

1

Phenotype-genotype spectrum of a cohort of congenital muscu..:

Chawla, Tanushree ; Nashi, Saraswati ; Baskar, Dipti...
Neurogenetics. , 2024

Link: https://doi.org/10.1007/..

2

Phenotypic Heterogeneity in ORAI-1-Associated Congenital My..:

Baskar, Dipti ; Vengalil, Seena ; Polavarapu, Kiran...
Global Medical Genetics. 11 (2024) 4 - p. 297-303 , 2024

Link: https://doi.org/10.1055/..

3

Bing Neel syndrome presenting as isolated cranial nerve pal..:

Baskar, Dipti ; Anudeep, Davuluri Durga Srinivas ; Vengalil, Seena...
eNeurologicalSci. 35 (2024) - p. 100505 , 2024

Link: https://doi.org/10.1016/..

4

Phenotype-Genotype Correlation of a Cohort of Patients with..:

Harikrishna, Ganaraja Valakunja ; Padmanabha, Hansashree ; Polavarapu, Kiran...
Journal of Neuromuscular Diseases. 11 (2024) 5 - p. 935-957 , 2024

Link: https://doi.org/10.3233/..

5

Spinal melanoma with optic neuropathy –rare manifestation o..:

Baskar, Dipti ; Vengalil, Seena ; Chakkera, Priyanka...
eNeurologicalSci. 35 (2024) - p. 100504 , 2024

Link: https://doi.org/10.1016/..

6

Identification of a Novel Intronic Mutation in VMA21 Associ..:

Bardhan, Mainak ; Polavarapu, Kiran ; Baskar, Dipti...
Global Medical Genetics. 11 (2024) 2 - p. 167-174 , 2024

Link: https://doi.org/10.1055/..

7

Monomelic Amyotrophy/Hirayama Disease: Surgical Outcome in ..:

Vengalil, Seena ; Pruthi, Nupur ; Bhat, Dhananjay...
World Neurosurgery. 183 (2024) - p. e88-e97 , 2024

Link: https://doi.org/10.1016/..

8

Clinical and Genetic Heterogeneity of Nuclear Envelopathy R..:

Baskar, Dipti ; Preethish-Kumar, Veeramani ; Polavarapu, Kiran...
Journal of Neuromuscular Diseases. 11 (2024) 5 - p. 969-979 , 2024

Link: https://doi.org/10.3233/..

9

GNE Myopathy: Genotype – Phenotype Correlation and Disease ..:

Baskar, Dipti ; Reddy, Nishanth ; Preethish-Kumar, Veeramani...
Journal of Neuromuscular Diseases. 11 (2024) 5 - p. 959-968 , 2024

Link: https://doi.org/10.3233/..

10

Partial loss of desmin expression due to a leaky splice sit..:

Polavarapu, Kiran ; O'Neil, Daniel ; Thompson, Rachel...
Neuromuscular Disorders. 39 (2024) - p. 10-18 , 2024

Link: https://doi.org/10.1016/..

11

Obstructive Hydrocephalus as the Solitary Manifestation of ..:

Jha, Shreyashi ; Baskar, Dipti ; Nandeesh, BN...
Annals of Indian Academy of Neurology. 26 (2023) 1 - p. 77-80 , 2023

Link: https://doi.org/10.4103/..

12

Spinal - bulbar muscular atrophy – Clinico-genetics and dis..:

Baskar, Dipti ; Kumar, Veeramani Preethish ; Polavarapu, Kiran...
Journal of the Neurological Sciences. 455 (2023) - p. 121699 , 2023

Link: https://doi.org/10.1016/..

13

Adult Onset Episodic Encephalopathy Due to Citrin Deficienc..:

Baskar, Dipti ; Lakshmi, Vathsala ; Nalini, Atchayaram...
Annals of Indian Academy of Neurology. 26 (2023) 4 - p. 553-555 , 2023

Link: https://doi.org/10.4103/..

14

Unique genotypic pattern in Indian DPAGT1 congenital myasth..:

Polavarapu, Kiran ; Sunitha, Balaraju ; Töpf, Ana...
Journal of the Neurological Sciences. 455 (2023) - p. 122042 , 2023

Link: https://doi.org/10.1016/..

15

Rare forms of genetically mediated familial and sporadic am..:

Cheriyan, Anoop ; Nashi, Saraswati ; Vengalil, Seena...
Journal of the Neurological Sciences. 455 (2023) - p. 121708 , 2023

Link: https://doi.org/10.1016/..