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/vufind/Search/Results?lookfor=%22Srinivasan%2C+Varunvenkat+M%22&type=Person&filter%5B%5D=topic_facet%3A%22Journal+Article%22
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PubPharm (35)
1
Clinical and Molecular Spectrum of Autosomal Recessive CA8-Related Cerebellar Ataxia
enthalten in:
Movement disorders : official journal of the Movement Disorder Society
| 2024
von
Kaiyrzhanov, R.
|
Ortigoza-Escobar, J.
|
Stringer, B.
| +27
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2
Variants in DOK7 results in fetal akinesia deformation sequence : A case report and review of literature
enthalten in:
Clinical genetics
| 2024
von
Tiwari, A.
|
Srinivasan, V.
|
Phadke, S.
| +1
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3
PHACE Syndrome (Posterior Fossa Malformations, Hemangioma, Arterial Anomalies, Coarctation of the Aorta/ Cardiac Defects, and Eye Abnormalities) /Cutaneous Hemangioma-Vascular Complex Syndrome/Pascual-Castroviejo Type II Syndrome
enthalten in:
Indian journal of pediatrics
| 2024
von
Gowda, V.
|
Srinivasan, V.
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4
In silico characterization and identification of compound heterozygous variants in H/ACA Ribonucleoprotein Assembly Factor (SHQ1) from Indian population
enthalten in:
Journal of family medicine and primary care
| 2024
von
Gowda, V.
|
Srinivasan, V.
|
Srivastava, S.
| +4
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5
The Combined Neurogenetic Disorders; Blended Phenotype of Metachromatic Leukodystrophy (MLD) and Glutaric Aciduria Type 1 (GA -1) in an Indian Child
enthalten in:
Annals of Indian Academy of Neurology
| 2024
von
Gowda, V.
|
Reddy, V.
|
Srinivasan, V.
| +1
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6
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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7
Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Accogli, A.
|
Lin, S.
|
Severino, M.
| +56
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8
Pure cerebellar ataxia due to bi-allelic PRDX3 variants including recurring p.Asp202Asn
enthalten in:
Annals of clinical and translational neurology
| 2023
von
Efthymiou, S.
|
Novis, L.
|
Koutsis, G.
| +13
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9
Kohlschutter-Tonz syndrome (amelo-cerebro-hypohidrotic syndrome) in an Indian family with a novel ROGD1 mutation
enthalten in:
Clinical dysmorphology
| 2023
von
Gowda, V.
|
Bylappa, A.
|
Srinivasan, V.
| +2
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10
Case Series of Ethylmalonic Encephalopathy from Southern India
enthalten in:
Journal of pediatric genetics
| 2023
von
Gowda, V.
|
Srinivasan, V.
|
Jetha, K.
| +5
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Thema: Journal Article
Medienart
35
Aufsätze
35
E-Artikel
35
E-Ressourcen
Zeitschriftentitel
6
Journal of pediatric genetics
5
Indian journal of pediatrics
4
Annals of Indian Academy of Neurology
4
Genetics in medicine : official journal of the ...
1
Annals of clinical and translational neurology
1
Brain & development
1
Brain : a journal of neurology
1
Clinical dysmorphology
1
Clinical genetics
1
Cureus
1
Epilepsia open
1
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1
Human mutation
1
Journal of family medicine and primary care
1
Journal of pediatric neurosciences
1
Journal of tropical pediatrics
1
Molecular genetics and metabolism reports
1
Movement disorders : official journal of the Mo...
1
Neuropediatrics
1
The Journal of clinical investigation
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Thema
Journal Article
10
Research Support, Non-U.S. Gov't
6
Case Reports
2
Dystonia
2
Membrane Transport Proteins
2
Research Support, N.I.H., Extramural
2
Review
2
cerebellar atrophy
2
developmental and epileptic encephalopathy
2
neurodevelopmental disorders
2
protein modeling
1
12634-43-4
1
9014-25-9
1
ADAM Proteins
1
ADAM22
1
ADAM22 protein, human
1
ALDH3A2
1
ALG13 protein, human
1
ANTXR2 gene
1
Aldehyde Oxidoreductases
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Erscheinungszeitraum
29
2020-
6
2010-2019
Erscheinungsjahr(e)
Von:
Bis:
Sprache
35
Englisch
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