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/vufind/Search/Results?lookfor=%22Danda%2C+Sumita%22&type=Person&sort=year
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PubPharm (209)
1
Diagnostic exome identifies a novel PRKG2 mutation in a proband with skeletal dysplasia
enthalten in:
Clinical genetics
| 2024
von
Kamdar, P.
|
Geetha, T.
|
Palocaren, T.
| +5
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2
Biallelic Variants in
CCN2
Underlie an Autosomal Recessive Kyphomelic Dysplasia
enthalten in:
bioRxiv.org
| 2024
von
Singh, S.
|
Danda, S.
|
Sharma, N.
| +9
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3
Investigation of mutation spectrum amongst patients with familial primary cardiomyopathy using targeted NGS in Indian population
enthalten in:
Journal of applied genetics
| 2024
von
Krishnaswamy, S.
|
Arunachal, G.
|
Singh, K.
| +4
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4
A rare variant c.1802T>C (p. Ile601Thr) associated with severe phenotype among people with cystic fibrosis from south India, and potential genetic admixture in Réunion, France
enthalten in:
Pediatric pulmonology
| 2024
von
Kumar, M.
|
Aaron, R.
|
Varkki, S.
| +3
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5
KCTD7-related progressive myoclonic epilepsy : Report of 42 cases and review of literature
enthalten in:
Epilepsia
| 2024
von
Yoganathan, S.
|
Whitney, R.
|
Thomas, M.
| +30
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6
High carrier frequency of CYP21A2 gene mutations in Southern India - underscoring the need for genetic testing in Congenital Adrenal Hyperplasia
enthalten in:
Endocrine
| 2024
von
Ravichandran, L.
|
Paul, S.
|
A, R.
| +6
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7
Angiogenesis related genes in Takayasu Arteritis (TAK): robust association with Tag SNPs of IL-18 and FGF-2 in a South Asian Cohort
enthalten in:
Journal of human genetics
| 2024
von
Danda, D.
|
Goel, R.
|
Kabeerdoss, J.
| +5
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8
Homozygous CARD14 variant presenting as infantile erythroderma
enthalten in:
BMJ case reports
| 2024
von
Shajil, C.
|
Sathishkumar, D.
|
Kumar, S.
| +1
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9
KCTD7‐related progressive myoclonic epilepsy : Report of 42 cases and review of literature
enthalten in:
Epilepsia
| 2024
von
Yoganathan, S.
|
Whitney, R.
|
Thomas, M.
| +30
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10
Landscape of genetic infantile epileptic spasms syndrome-A multicenter cohort of 124 children from India
enthalten in:
Epilepsia open
| 2023
von
Nagarajan, B.
|
Gowda, V.
|
Yoganathan, S.
| +21
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209
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Zeitschriftentitel
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Indian journal of pediatrics
13
Annals of Indian Academy of Neurology
10
American journal of medical genetics. Part A
8
Clinical dysmorphology
8
Rheumatology international
6
BMC medical genetics
6
The Indian journal of medical research
5
Indian journal of medical research
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The journal of obstetrics and gynecology of India
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American Journal of Medical Genetics Part C: Se...
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American journal of human genetics
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European journal of medical genetics
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Indian pediatrics
3
American journal of hematology
3
Genetics in medicine
3
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3
Journal of pediatric genetics
3
Journal of perinatal medicine
3
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26
Research Support, Non-U.S. Gov't
18
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13
India
9
Takayasu arteritis
6
Pathogenic variant
6
Review
5
DR40J4WA67
5
Genetics
5
Lysosomal storage disorder
5
Pyrrolidines
5
eliglustat
4
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4
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4
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4
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4
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4
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4
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