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Search Results to Aravindhan Veerapandiyan

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Veerapandiyan, Aravindhan

One or more keywords matched the following items that are connected to Veerapandiyan, Aravindhan

Item Type	Name
Concept	Mutation
Concept	Mutation, Missense
Academic Article	Seizure predisposition after perinatal hypoxia: effects of subsequent age and of an epilepsy predisposing gene mutation.
Academic Article	Reactive lymphoid hyperplasia in association with 22q11.2 deletion syndrome and a BRCA2 mutation.
Academic Article	A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene: Clinical Course and Response to Riboflavin.
Academic Article	Child Neurology: Type 1 sialidosis due to a novel mutation in NEU1 gene.
Academic Article	Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy.
Academic Article	Novel mutation in mitochondrial DNA in 2 siblings with Leigh syndrome.
Academic Article	Pseudometabolic presentation of dystrophinopathy due to a missense mutation.
Academic Article	Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
Academic Article	A novel intronic homozygous mutation in the AMT gene of a patient with nonketotic hyperglycinemia and hyperammonemia.
Academic Article	Variable penetrance of Andersen-Tawil syndrome in a family with a rare missense KCNJ2 mutation.
Academic Article	A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy.
Academic Article	BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review.
Academic Article	Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation.
Academic Article	Congenital Myasthenic Syndrome due to a Novel Mutation in CHAT Gene.
Academic Article	Epilepsy in hereditary spastic paraplegia associated with NIPA1 gene.
Academic Article	Infantile-Onset Complex Hereditary Spastic Paraplegia Due to a Novel Mutation in SPAST Gene.
Academic Article	Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay due to Novel Mutations in the SACS Gene.
Academic Article	Child Neurology: KMT2B-Related Dystonia in a Young Child With Worsening Gait Abnormality.

Search Criteria

Mutation