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PubPharm (128)
31
Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC)
enthalten in:
Indian journal of pediatrics
| 2023
von
Gowda, V.
|
Srinivasan, V.
Wird geladen...
32
Aicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications
enthalten in:
Indian journal of pediatrics
| 2023
von
Gowda, V.
|
Reddy, V.
|
Srinivasan, V.
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33
Ohtahara and West Syndrome due to Pyridox(am)ine-5-Phosphate Oxidase (PNPO) Deficiency with Novel Phenotype and Good Outcome without Pyridoxal-5'-Phosphate
enthalten in:
Indian journal of pediatrics
| 2023
von
Gowda, V.
|
Srinivasan, V.
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34
In Silico Characterization of RNASEH2A Pathogenic Variants and Identification of Novel Splice Site Donor Variant c.549+1G>T in Indian Population
enthalten in:
Cureus
| 2023
von
Nanjundagowda, V.
|
Paikaraya, S.
|
Srinivasan, V.
| +1
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35
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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36
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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37
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis
enthalten in:
The Journal of clinical investigation
| 2023
von
Gehin, C.
|
Lone, M.
|
Lee, W.
| +82
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38
Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC)
enthalten in:
Indian journal of pediatrics
| 2023
von
Gowda, V.
|
Srinivasan, V.
Wird geladen...
39
Recurrent Familial Acute Necrotizing Encephalopathy of Childhood (ANEC)
enthalten in:
Indian journal of pediatrics
| 2023
von
Gowda, V.
|
Srinivasan, V.
Wird geladen...
40
Aicardi-Goutieres Syndrome Type-1 without Intracranial Calcifications
enthalten in:
Indian journal of pediatrics
| 2023
von
Gowda, V.
|
Reddy, V.
|
Srinivasan, V.
Wird geladen...
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Indian journal of pediatrics
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Journal of pediatric genetics
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Human mutation
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Indian pediatrics
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Research Support, Non-U.S. Gov't
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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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