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PubPharm (128)
81
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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82
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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83
Expanding Phenotype of Hypomyelination and Congenital Cataract (HCC) with a Novel Pathogenic Variant
enthalten in:
Indian journal of pediatrics
| 2021
von
Gowda, V.
|
Nagarajan, B.
|
Srinivasan, V.
| +1
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84
Siblings with Glutaric Aciduria Type 1 with Atypical Phenotype with Novel Pathogenic Variant in GCDH Gene
enthalten in:
Journal of pediatric neurosciences
| 2021
von
Gowda, V.
|
Nagarajan, B.
|
Srinivasan, V.
| +1
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85
Novel ALDH3A2 mutations in structural and functional domains of FALDH causing diverse clinical phenotypes in Sjögren–Larsson syndrome patients
enthalten in:
Human mutation
| 2021
von
Rajeshwari, M.
|
Karthi, S.
|
Singh, R.
| +8
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86
Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease : A Single Center Experience from Southern India
enthalten in:
Journal of pediatric genetics
| 2021
von
Gowda, V.
|
Srinivasan, V.
|
Nagarajan, B.
| +3
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87
Infantile Alexander Disease Presenting with Hydrocephalus and Epileptic Spasms
enthalten in:
Indian journal of pediatrics
| 2020
von
Gowda, V.
|
Srinivasan, V.
|
Bhat, M.
| +1
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88
Fucosidosis with Pathogenic Variant in FUCA1 Gene
enthalten in:
Indian journal of pediatrics
| 2020
von
Gowda, V.
|
Srinivasan, V.
|
Vegda, H.
| +1
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89
Report of Two Siblings with Andermann Syndrome
enthalten in:
Indian journal of pediatrics
| 2020
von
Gowda, V.
|
Srinivasan, V.
|
Sarmast, S.
| +1
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90
Macrophagic Myofasciitis : A Report of Two South Indian Infants
enthalten in:
Journal of pediatric neurosciences
| 2020
von
Gowda, V.
|
Srinivasan, V.
|
Muthane, Y.
| +1
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Indian journal of pediatrics
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Journal of pediatric genetics
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Indian pediatrics
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India
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neurodevelopmental disorders
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Biotin thiamine responsive basal ganglia disease
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C19orf12 gene
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2010-2019
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