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Ashwin Dalal

Showing results (31-40 of 123) with videos related to

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Fetal and Pediatric Pathology|April 5, 2022
Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!Priya Ranganath, Vineeth Vs, Ikromi Rungsung, et al.
American Journal of Medical Genetics. Part A|April 5, 2016
Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disordersShubha R Phadke, Anjana Kar, Aneek Das Bhowmik, et al.
Journal of Reproduction & Infertility|May 7, 2019
Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGSUsha R Dutta, Venugopala Swamy, Rajitha Ponnala, et al.
Journal of Genetics|December 21, 2016
Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type MaroteauxPriyanka Srivastava, Moni Tuteja, Ashwin Dalal, et al.
Pediatric Neurology|January 26, 2024
Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern IndiaLekshmi S Nair, Jamal Mohammed Nurul Jain, Ashwin Dalal, et al.
The Indian Journal of Medical Research|August 2, 2023
Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disordersMaria Celestina Vanaja, Jamal Mohammed Nurul Jain, Ashwin Dalal, et al.
Molecular Syndromology|June 14, 2019
Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?Karthik Tallapaka, Shagun Aggarwal, Amrita Bhattacherjee, et al.
Prenatal Diagnosis|November 21, 2022
Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13Neelam Saini, Venkatapuram Vijayasree, Eshwar Chandra Nandury, et al.
American Journal of Medical Genetics. Part A|April 26, 2016
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrumShagun Aggarwal, Aneek Das Bhowmik, Vedam L Ramprasad, et al.
European Journal of Medical Genetics|February 27, 2021
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosisKaren M Knapp, Bridget Fellows, Shagun Aggarwal, et al.
Pageof 13

Showing results (31-40 of 123) with videos related to

Sort By:
Pageof 13
Fetal and Pediatric Pathology|April 5, 2022
Next Generation Sequencing in a Case of Early Onset Hydrops: Closing the Loop on the Diagnostic Odyssey!Priya Ranganath, Vineeth Vs, Ikromi Rungsung, et al.
American Journal of Medical Genetics. Part A|April 5, 2016
Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disordersShubha R Phadke, Anjana Kar, Aneek Das Bhowmik, et al.
Journal of Reproduction & Infertility|May 7, 2019
Determining the Cause of Recurrent Miscarriages in a Couple: Importance of NOR in the Era of NGSUsha R Dutta, Venugopala Swamy, Rajitha Ponnala, et al.
Journal of Genetics|December 21, 2016
Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type MaroteauxPriyanka Srivastava, Moni Tuteja, Ashwin Dalal, et al.
Pediatric Neurology|January 26, 2024
Etiologic Spectrum of Pediatric-Onset Leukodystrophies and Genetic Leukoencephalopathies: The Five-Year Experience of a Tertiary Care Center in Southern IndiaLekshmi S Nair, Jamal Mohammed Nurul Jain, Ashwin Dalal, et al.
The Indian Journal of Medical Research|August 2, 2023
Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disordersMaria Celestina Vanaja, Jamal Mohammed Nurul Jain, Ashwin Dalal, et al.
Molecular Syndromology|June 14, 2019
Co-Occurrence of Leber Congenital Amaurosis and Meckel Syndrome Type 1 in a Fetus: Is There a Lesson to Be Learned?Karthik Tallapaka, Shagun Aggarwal, Amrita Bhattacherjee, et al.
Prenatal Diagnosis|November 21, 2022
Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13Neelam Saini, Venkatapuram Vijayasree, Eshwar Chandra Nandury, et al.
American Journal of Medical Genetics. Part A|April 26, 2016
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrumShagun Aggarwal, Aneek Das Bhowmik, Vedam L Ramprasad, et al.
European Journal of Medical Genetics|February 27, 2021
A synonymous variant in a non-canonical exon of CDC45 disrupts splicing in two affected sibs with Meier-Gorlin syndrome with craniosynostosisKaren M Knapp, Bridget Fellows, Shagun Aggarwal, et al.
Pageof 13