Research Articles Archives - Shishu Child Development and Early Intervention Centre

All Posts in Category: Research Articles

Aug 20 Comments Off

BMC Neurology 2023

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Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test

Journal Publication at BMC Neurology – 2023

Apr 14 Comments Off

BMC Pediatrics 2023

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A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report

Journal Publication published in BMC Pediatrics – 2023

Apr 14 Comments Off

BMC Pediatrics 2023

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Late infantile form of multiple sulfatase defciency with a novel missense variant in the SUMF1 gene: case report and review

Journal Publication published in BMC Pediatrics – 2023

Apr 14 Comments Off

IJDBP 2022

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Rett Syndrome in India: demographics, clinical features, and genetic profile of 6 Rett Syndrome cases as part of "Genetics in Autism" research study

Journal Publication published in INDIAN JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS 2022

Apr 14 Comments Off

EACD 2022

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Rett Syndrome in India: demographics, clinical features and genetic profile of 6 Rett Syndrome cases as part of "Genetics in Autism" research study.

Poster Presentation at European Academy of Childhood Disability 2022, Barcelona