E-LIB Suche - Ergebnisse für: Danda, Sumita

1

CFTR mutations and phenotypic correlations in people with c..:

Varkki, Sneha D. ; Aaron, Rekha ; Chapla, Aaron...
The Lancet Regional Health - Southeast Asia. 27 (2024) - p. 100434 , 2024

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

2

KCTD7‐related progressive myoclonic epilepsy: Report of 42 ..:

Yoganathan, Sangeetha ; Whitney, Robyn ; Thomas, Maya...
Epilepsia. 65 (2024) 3 - p. 709-724 , 2024

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

3

A pilot study of childhood-onset Takayasu arteritis using w..:

Kabeerdoss, Jayakanthan ; Danda, Sumita ; Srivastava, Priyanka...
Clinical Rheumatology. , 2024

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

4

Investigation of mutation spectrum amongst patients with fa..:

Krishnaswamy, Saroja Mysore ; Arunachal, Gautham ; Singh, Kumar Gautam...
Journal of Applied Genetics. , 2024

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

5

A rare variant c.1802T>C (p. Ile601Thr) associated with sev..:

Kumar, Madhan ; Aaron, Rekha ; Varkki, Sneha D....
Pediatric Pulmonology. 59 (2024) 6 - p. 1820-1825 , 2024

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

6

Landscape of genetic infantile epileptic spasms syndrome—A ..:

Nagarajan, Balamurugan ; Gowda, Vykuntaraju K. ; Yoganathan, Sangeetha...
Epilepsia Open. 8 (2023) 4 - p. 1383-1404 , 2023

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

7

Clinico-Etiological Spectrum and Functional Outcomes of Chi..:

Joshi, Shridhar P. ; Thomas, Maya ; Yoganathan, Sangeetha...
Annals of Indian Academy of Neurology. 26 (2023) 3 - p. 268-274 , 2023

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

8

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/..

9

Angiogenesis related genes in Takayasu Arteritis (TAK): rob..:

Danda, Debashish ; Goel, Ruchika ; Kabeerdoss, Jayakanthan...
Journal of Human Genetics. 69 (2023) 1 - p. 13-18 , 2023

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

10

Adult-onset leukodystrophies: a practical guide, recent tre..:

Muthusamy, Karthik ; Sivadasan, Ajith ; Dixon, Luke...
Frontiers in Neurology. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

11

Proband only exome sequencing in 403 Indian children with n..:

Pranav Chand, Rayabarapu ; Vinit, Wankhede ; Vaidya, Varsha...
European Journal of Medical Genetics. 66 (2023) 5 - p. 104730 , 2023

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

12

Exploration of clinical and genetic findings in Ataxia-Tela..:

Das, Sweta ; Thomas, Maya ; Yoganathan, Sangeetha...
European Journal of Medical Genetics. 66 (2023) 6 - p. 104766 , 2023

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

13

An Unusual Case of BSND Gene–Related (Type IV) Bartter Synd..:

Shajan, Aleena M. ; Kumar, Manish ; Navaneethan, Preethi..
Maternal-Fetal Medicine. 5 (2023) 2 - p. 128-130 , 2023

Link: https://doi.org/10.1097/..

14

SERPINF1 gene variants causing late-onset progressive defor..:

Selina, Agnes ; Kandagaddala, Madhavi ; Kumar, Vignesh...
Bone Reports. 18 (2023) - p. 101690 , 2023

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

15

P262: First genetically confirmed case of Schinzel-Giedion ..:

Selvam, Pavalan Panneer ; G, Paramasivam ; Danda, Sumita
Genetics in Medicine Open. 1 (2023) 1 - p. 100290 , 2023

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