Suchergebnisse - "Srinivasan, Varunvenkat M"

PubPharm (128)

41

Aicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications

enthalten in: Indian journal of pediatrics | 2023

von Gowda, V. | Reddy, V. | Srinivasan, V.

42

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.

43

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.

44

Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India

enthalten in: Journal of pediatric genetics | 2023

von Gowda, V. | Battina, M. | Vegda, H. | +5

45

Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia

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

von Morsy, H. | Benkirane, M. | Cali, E. | +122

46

Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants : A study in 42 affected individuals

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

von Saida, K. | Maroofian, R. | Sengoku, T. | +84

47

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

48

A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia

enthalten in: American Journal of Medical Genetics Part C: Seminars in Medical Genetics | 2023

von Werren, E. | Srinivasan, V. | Gowda, V. | +5

49

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

50

Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature

enthalten in: Molecular genetics and metabolism reports | 2022

von Priestley, J. | Pace, L. | Sen, K. | +16