E-LIB Suche - Ergebnisse für: Geetha, Thenral S.

1

The Genetic Drivers of Juvenile, Young, and Early‐Onset Par..:

Andrews, Shan V. ; Kukkle, Prashanth L. ; Menon, Ramesh...
Movement Disorders. 39 (2023) 2 - p. 339-349 , 2023

2

Comprehensive laboratory diagnosis of Fanconi anaemia: comp..:

Joshi, Gaurav ; Arthur, Nancy Beryl Janet ; Geetha, Thenral S...
Journal of Medical Genetics. 60 (2023) 8 - p. 801-809 , 2023

Link: https://doi.org/10.1136/..

3

Early-infantile developmental and epileptic encephalopathy:..:

Agarwala, Pooja ; Narang, Bhuvandeep ; Geetha, Thenral S...
Brain Communications. 5 (2023) 5 - p. , 2023

Link: https://doi.org/10.1093/..

4

Diagnostic exome identifies a novel PRKG2 mutation in a pro..:

Kamdar, Payal ; Geetha, Thenral S. ; Palocaren, Thomas...
Clinical Genetics. 105 (2023) 4 - p. 453-454 , 2023

Link: https://doi.org/10.1111/..

5

Identification of a shared, common haplotype segregating wi..:

Sanga, Shamita ; Chakraborty, Sudipta ; Bardhan, Mainak...
Scientific Reports. 13 (2023) 1 - p. , 2023

Link: https://doi.org/10.1038/..

6

Oculogyric Crisis Phenotype of Levodopa‐Induced Ocular Dysk..:

Olszewska, Diana A. ; Shetty, Rajesh ; Geetha, Thenral S....
Movement Disorders Clinical Practice. 9 (2022) 3 - p. 390-393 , 2022

Link: https://doi.org/10.1002/..

7

Genome‐Wide Polygenic Score Predicts Large Number of High R..:

Kukkle, Prashanth Lingappa ; Geetha, Thenral S. ; Chaudhary, Ruchi...
Advanced Biology. 6 (2022) 11 - p. , 2022

Link: https://doi.org/10.1002/..

8

Genotype–phenotype correlation and natural history study of..:

Nashi, ‬Saraswati ; Polavarapu, Kiran ; Bardhan, Mainak...
neurogenetics. 24 (2022) 1 - p. 43-53 , 2022

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

9

Clinical, genetic profile and disease progression of sarcog..:

Bardhan, Mainak ; Anjanappa, Ram Murthy ; Polavarapu, Kiran...
neurogenetics. 23 (2022) 3 - p. 187-202 , 2022

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

10

A New Variant of an Old Itch: Novel Missense Variant in ABC..:

Shankar, Sahana ; Pande, Apurva ; Geetha, Thenral S....
Journal of Clinical and Experimental Hepatology. 12 (2022) 2 - p. 701-704 , 2022

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

11

Metabolic and Genetic Evaluation in Children with Nephrolit..:

Mandal, Anita ; Khandelwal, Priyanka ; Geetha, Thenral S....
Indian Journal of Pediatrics. 89 (2022) 12 - p. 1243-1250 , 2022

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

12

A novel leaky splice variant in centromere protein J (CENPJ..:

Yadav, Navneesh ; Kirola, Laxmi ; Geetha, Thenral S...
Annals of Human Genetics. 86 (2022) 5 - p. 245-256 , 2022

Link: https://doi.org/10.1111/..

13

Nemaline Rod/Cap Myopathy Due to Novel Homozygous MYPN Muta..:

Polavarapu, Kiran ; Bardhan, Mainak ; Anjanappa, Ram Murthy...
Journal of Clinical Neurology. 17 (2021) 3 - p. 409 , 2021

Link: https://doi.org/10.3988/..

14

Clinical Study of 668 Indian Subjects with Juvenile, Young,..:

Kukkle, Prashanth L. ; Goyal, Vinay ; Geetha, Thenral S....
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques. 49 (2021) 1 - p. 93-101 , 2021

Link: https://doi.org/10.1017/..

15

Phenotypic variability in distal acidification defects asso..:

Khandelwal, Priyanka ; Mahesh V ; Mathur, Vijay Prakash...
Pediatric Nephrology. 36 (2020) 4 - p. 881-887 , 2020

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