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Indian Pediatrics
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October 25, 2008
Sly Disease: Mucopolysaccharidosis Type VII
Sheela Nampoothiri, Mahesh Kappanayil, K R Hiran, et al.
JBMR Plus
|
March 29, 2021
Loss of TANGO1 Leads to Absence of Bone Mineralization
Brecht Guillemyn, Sheela Nampoothiri, Delfien Syx, et al.
Indian Pediatrics
|
August 13, 2008
Partial trisomy 9q due to maternal 9q 17q translocation
Sheela Nampoothiri, Lakshmy R Lakshman, Alka Anilkumar, et al.
The Indian Journal of Radiology & Imaging
|
April 16, 2016
Prenatal diagnosis of amniotic band syndrome
Laxmi Devi Padmanabhan, Zareena V Hamza, Madhavan Venugopalan Thampi, et al.
Journal of Pediatric Genetics
|
November 18, 2017
Osteoglophonic Dysplasia: Phenotypic and Radiological Clues
Shwetha Kuthiroly, Dhanya Yesodharan, Aneesh Ghosh, et al.
Journal of Human Genetics
|
October 20, 2018
Locus and allelic heterogeneity in five families with hereditary spastic paraplegia
Malavika Hebbar, Anju Shukla, Sheela Nampoothiri, et al.
Indian Pediatrics
|
August 5, 2011
Congenital myotonic dystrophy with asymptomatic mother
K M Anand, V M Biradar, J N Panicker, et al.
Journal of Human Genetics
|
July 10, 2019
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome
Antonia Howaldt, Sheela Nampoothiri, Dhanya Yesodharan, et al.
Annals of Indian Academy of Neurology
|
December 12, 2018
Extensive Extrapulvinar Calcification in Fabry Disease
Jitupam Baishya, Praveen Kesav, Sheela Nampoothiri, et al.
Human Genetics
|
February 27, 2026
A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly
Debora Tibbe, Tess Holling, Michael Spohn, et al.
Page
of 17
Search research articles
Search
Showing results (11-20 of 170) with videos related to
Sort By:
Page
of 17
Indian Pediatrics
|
October 25, 2008
Sly Disease: Mucopolysaccharidosis Type VII
Sheela Nampoothiri, Mahesh Kappanayil, K R Hiran, et al.
JBMR Plus
|
March 29, 2021
Loss of TANGO1 Leads to Absence of Bone Mineralization
Brecht Guillemyn, Sheela Nampoothiri, Delfien Syx, et al.
Indian Pediatrics
|
August 13, 2008
Partial trisomy 9q due to maternal 9q 17q translocation
Sheela Nampoothiri, Lakshmy R Lakshman, Alka Anilkumar, et al.
The Indian Journal of Radiology & Imaging
|
April 16, 2016
Prenatal diagnosis of amniotic band syndrome
Laxmi Devi Padmanabhan, Zareena V Hamza, Madhavan Venugopalan Thampi, et al.
Journal of Pediatric Genetics
|
November 18, 2017
Osteoglophonic Dysplasia: Phenotypic and Radiological Clues
Shwetha Kuthiroly, Dhanya Yesodharan, Aneesh Ghosh, et al.
Journal of Human Genetics
|
October 20, 2018
Locus and allelic heterogeneity in five families with hereditary spastic paraplegia
Malavika Hebbar, Anju Shukla, Sheela Nampoothiri, et al.
Indian Pediatrics
|
August 5, 2011
Congenital myotonic dystrophy with asymptomatic mother
K M Anand, V M Biradar, J N Panicker, et al.
Journal of Human Genetics
|
July 10, 2019
Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome
Antonia Howaldt, Sheela Nampoothiri, Dhanya Yesodharan, et al.
Annals of Indian Academy of Neurology
|
December 12, 2018
Extensive Extrapulvinar Calcification in Fabry Disease
Jitupam Baishya, Praveen Kesav, Sheela Nampoothiri, et al.
Human Genetics
|
February 27, 2026
A homozygous synonymous variant in SMG5, encoding a nonsense-mediated mRNA decay factor, causes developmental delay with growth retardation and relative macrocephaly
Debora Tibbe, Tess Holling, Michael Spohn, et al.
Page
of 17