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PII: S2212-8328(10)80040-2

Pediatric Infectious Disease, January 2010, Vol.2(1), pp.42-42 [Peer Reviewed Journal]

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Association of TALS Developmental Disorder with Defect in Minor Splicing Component U4atac snRNA

Science (Washington), Apr 8, 2011, Vol.332(6026), pp.240-243 [Peer Reviewed Journal]

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Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.

Science (New York, N.Y.), April 8, 2011, Vol.332(6026), pp.240-243 [Peer Reviewed Journal]

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Prenatal detection of congenital high airway obstruction syndrome with encephalocele

Indian Journal of Radiology and Imaging, 2016, Vol.26(1), p.70-72 [Peer Reviewed Journal]

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Crigler-Najjar syndrome type 2: Novel UGT1A1 mutation

Indian Journal of Human Genetics, 2012, Vol.18(2), p.233-234 [Peer Reviewed Journal]

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Chondrodysplasia and Abnormal Joint Development Associated with Mutations in IMPAD1, Encoding the Golgi-Resident Nucleotide Phosphatase, gPAPP

The American Journal of Human Genetics, 13 May 2011, Vol.88(5), pp.608-615 [Peer Reviewed Journal]

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Lipoprotein lipase deficiency in an infant

Indian pediatrics, October 2011, Vol.48(10), pp.805-6 [Peer Reviewed Journal]

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Macrostomia, thin upper vermilion border, long philtrum, broad halluces, and intellectual disability in two sibs

American Journal of Medical Genetics. Part A, Oct 2011, Vol.155(10), pp.2465-2468 [Peer Reviewed Journal]

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Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management

Indian Journal of Ophthalmology, 2016, Vol.64(9), p.620-627 [Peer Reviewed Journal]

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Prenatal diagnosis of amniotic band syndrome

Indian Journal of Radiology and Imaging, 2016, Vol.26(1), p.63-66 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Nampoothiri, Sheela
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