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/vufind/Search/Results?lookfor=%22Srinivasan%2C+Varunvenkat+M%22&type=Person&filter%5B%5D=topic_facet%3A%22Case+Reports%22
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PubPharm (22)
1
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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2
Mitochondrial Complex I Deficiency Masquerading as Stroke-Like Episode Clinically and as Alexander Disease Radiologically Following Chicken Pox
enthalten in:
Annals of Indian Academy of Neurology
| 2023
von
Gowda, V.
|
Bylappa, A.
|
Kinhal, U.
| +2
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3
Reversible Basal Ganglia Changes in a Child With Infantile Tremor Syndrome
enthalten in:
Indian pediatrics
| 2023
von
Gowda, V.
|
Bylappa, A.
|
Kinhal, U.
| +1
CommentOn: Indian J Pediatr. 2020 Jun;87(6):464-465. - PMID 31781955
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4
A Rare Genetic-Metabolic Cause of Epileptic Spasms : Dihydropyrimidine Dehydrogenase Deficiency
enthalten in:
Indian journal of pediatrics
| 2023
von
Gowda, V.
|
Srinivasan, V.
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5
Biotinidase Deficiency in the Second Decade with Atypical Neuroimaging Findings
enthalten in:
Advanced biomedical research
| 2023
von
Gowda, V.
|
Avaragollapuravarga Mathada, A.
|
Srinivasan, V.
| +1
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6
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia
enthalten in:
American journal of medical genetics. Part A
| 2023
von
Werren, E.
|
Srinivasan, V.
|
Gowda, V.
| +5
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7
Treatable Neurodegenerative Disorder : Cerebral Folate Transport Deficiency--Two Children from Southern India
enthalten in:
Journal of pediatric neurosciences
| 2021
von
Gowda, V.
|
Natarajan, B.
|
Srinivasan, V.
| +1
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8
Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in MAN2B1 Gene
enthalten in:
Journal of pediatric neurosciences
| 2021
von
Gowda, V.
|
Srinivasan, V.
|
Sardesai, A.
| +1
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9
Oromandibular and Laryngeal Dystonia Secondary to Dystonia 6 Due to THAP1 Variant in a Child
enthalten in:
Indian journal of pediatrics
| 2021
von
Gowda, V.
|
Battina, M.
|
Srinivasan, V.
| +1
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10
Familial Global Developmental Delay Secondary to β-Mannosidosis
enthalten in:
Journal of pediatric neurosciences
| 2021
von
Gowda, V.
|
Nagarajan, B.
|
Suryanarayana, S.
| +1
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Thema: Case Reports
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Indian journal of pediatrics
5
Journal of pediatric neurosciences
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American journal of medical genetics. Part A
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Annals of Indian Academy of Neurology
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Case Reports
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India
2
Membrane Transport Proteins
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ATP13A2 protein, human
1
Alexander disease
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DNA-Binding Proteins
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Erscheinungszeitraum
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2020-
8
2010-2019
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