Suchergebnisse - "Srinivasan, Varunvenkat M"

PubPharm (128)

21

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

22

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

23

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

24

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

25

Case Series of Ethylmalonic Encephalopathy from Southern India

enthalten in: Journal of pediatric genetics | 2023

von Gowda, V. | Srinivasan, V. | Jetha, K. | +5

26

Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy : Study of Six Cases

enthalten in: Journal of pediatric genetics | 2023

von Gowda, V. | Srinivas, S. | Gupta, P. | +3

27

Genotype-phenotype correlations in RHOBTB2-associated neurodevelopmental disorders

enthalten in: Genetics in medicine : official journal of the American College of Medical Genetics | 2023

von Langhammer, F. | Maroofian, R. | Badar, R. | +61

28

Snijders Blok-Campeau Syndrome : Description of 20 Additional Individuals with Variants in CHD3 and Literature Review

enthalten in: Genes | 2023

von Pascual, P. | Tenorio-Castano, J. | Mignot, C. | +34

29

Lathosterolosis - A Rare Treatable Cause for Global Developmental Delay, Cataract, and Liver Dysfunction Masquerading as Galactosemia

enthalten in: Indian journal of pediatrics | 2023

von Gowda, V. | Srinivasan, V. | Kinhal, U.

30

A Rare Genetic-Metabolic Cause of Epileptic Spasms : Dihydropyrimidine Dehydrogenase Deficiency

enthalten in: Indian journal of pediatrics | 2023

von Gowda, V. | Srinivasan, V.