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Ashwin Dalal

Showing results (41-50 of 123) with videos related to

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The Journal of Gene Medicine|March 21, 2023
A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81Asodu Sandeep Sarma, Bathula Siddardha, Pragna Lakshmi T, et al.
Journal of Human Genetics|November 22, 2018
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphismVenugopal S Vineeth, Aneek Das Bhowmik, Surya Balakrishnan, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|June 4, 2013
Report on ocular biometry of microphthalmos, retinal dystrophy, flash electroretinography, ocular coherence tomography, genetic analysis and the surgical challenge of entropion correction in a rare case of Hallermann-Streiff-Francois syndromeDeepa Jagadish Muthugaduru, Chinmaya Sahu, Mohammad Javed Ali, et al.
Interventional Neuroradiology : Journal of Peritherapeutic Neuroradiology, Surgical Procedures and Related Neurosciences|March 30, 2018
"Twig-like" cerebral vessels are not pathognomonic for ACTA A2 mutations: A case reportKrishnan Nagarajan, Elango Swamiappan, Sathiaprabhu Anbazhagan, et al.
American Journal of Medical Genetics. Part A|July 1, 2024
A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletionRohan Peter Mathew, Prashanth Ranya Raghavendra, Biradar Disha, et al.
European Journal of Medical Genetics|August 13, 2022
A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndromeAsodu Sandeep Sarma, Lavanya Banda, Madhava Rao Vupputuri, et al.
European Journal of Medical Genetics|December 6, 2021
Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90Dhanya Lakshmi Narayanan, Purvi Majethia, Aroor Shrikiran, et al.
Journal of Human Genetics|May 9, 2018
Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79Aneek Das Bhowmik, Siddaramappa J Patil, Dipti Vijayrao Deshpande, et al.
American Journal of Medical Genetics. Part A|March 17, 2022
Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrumGayatri Nerakh, Venugopal S Vineeth, Karthik Tallapaka, et al.
Gene|June 20, 2018
Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizuresVenugopal S Vineeth, Usha R Dutta, Karthik Tallapaka, et al.
Pageof 13

Showing results (41-50 of 123) with videos related to

Sort By:
Pageof 13
The Journal of Gene Medicine|March 21, 2023
A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81Asodu Sandeep Sarma, Bathula Siddardha, Pragna Lakshmi T, et al.
Journal of Human Genetics|November 22, 2018
Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphismVenugopal S Vineeth, Aneek Das Bhowmik, Surya Balakrishnan, et al.
Documenta Ophthalmologica. Advances in Ophthalmology|June 4, 2013
Report on ocular biometry of microphthalmos, retinal dystrophy, flash electroretinography, ocular coherence tomography, genetic analysis and the surgical challenge of entropion correction in a rare case of Hallermann-Streiff-Francois syndromeDeepa Jagadish Muthugaduru, Chinmaya Sahu, Mohammad Javed Ali, et al.
Interventional Neuroradiology : Journal of Peritherapeutic Neuroradiology, Surgical Procedures and Related Neurosciences|March 30, 2018
"Twig-like" cerebral vessels are not pathognomonic for ACTA A2 mutations: A case reportKrishnan Nagarajan, Elango Swamiappan, Sathiaprabhu Anbazhagan, et al.
American Journal of Medical Genetics. Part A|July 1, 2024
A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletionRohan Peter Mathew, Prashanth Ranya Raghavendra, Biradar Disha, et al.
European Journal of Medical Genetics|August 13, 2022
A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndromeAsodu Sandeep Sarma, Lavanya Banda, Madhava Rao Vupputuri, et al.
European Journal of Medical Genetics|December 6, 2021
Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90Dhanya Lakshmi Narayanan, Purvi Majethia, Aroor Shrikiran, et al.
Journal of Human Genetics|May 9, 2018
Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79Aneek Das Bhowmik, Siddaramappa J Patil, Dipti Vijayrao Deshpande, et al.
American Journal of Medical Genetics. Part A|March 17, 2022
Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrumGayatri Nerakh, Venugopal S Vineeth, Karthik Tallapaka, et al.
Gene|June 20, 2018
Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizuresVenugopal S Vineeth, Usha R Dutta, Karthik Tallapaka, et al.
Pageof 13