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Deepti Saxena

Showing results (11-20 of 42) with videos related to

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Journal of Genetics|April 19, 2018
Phenotypic characterization of derivative 22 syndrome: case series and reviewDeepti Saxena, Priyanka Srivastava, Moni Tuteja, et al.
American Journal of Medical Genetics. Part A|October 14, 2020
Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening programMayank Nilay, Amita Moirangthem, Deepti Saxena, et al.
Indian Journal of Pediatrics|April 3, 2020
Distal Arthrogryposis: A Clue to the Etiology of Neonatal CholestasisArchana Rai, Kausik Mandal, Deepti Saxena, et al.
Clinical Genetics|October 18, 2023
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literatureAmit K Tiwari, Varunvenkat M Srinivasan, Shubha R Phadke, et al.
Romanian Journal of Ophthalmology|February 12, 2025
Clinical Features and Epidemiological Insights of Acute Epidemic Conjunctivitis: A Multicentric Cross-Sectional Study in North Central IndiaAnkita Aishwarya, Amit Agarwal, Deepti Saxena, et al.
Journal of Genetics|April 5, 2019
Cytogenetic microarray in structurally normal and abnormal foetuses: a five year experience elucidating increasing acceptance and clinical utilityMeenakshi Lallar, Priyanka Srivastava, Archana Rai, et al.
Prenatal Diagnosis|March 25, 2023
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome dataDeepti Saxena, Somya Srivastava, Rajesh K Maurya, et al.
Clinical Genetics|April 30, 2025
Spectrum of Inherited Childhood-Onset Dystonia: Case Series of 19 Families With Genotype and Phenotype Characterization Highlighting the Treatable CausesNaik Adarsha, Arya Shambhavi, Haseena Sait, et al.
Clinical Dysmorphology|November 30, 2021
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variantsAmita Moirangthem, Deepti Saxena, Suzena Masih, et al.
Fetal and Pediatric Pathology|November 25, 2021
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic InheritanceSomya Srivastava, Rani Manisha, Aradhana Dwivedi, et al.
Pageof 5

Showing results (11-20 of 42) with videos related to

Sort By:
Pageof 5
Journal of Genetics|April 19, 2018
Phenotypic characterization of derivative 22 syndrome: case series and reviewDeepti Saxena, Priyanka Srivastava, Moni Tuteja, et al.
American Journal of Medical Genetics. Part A|October 14, 2020
Carrier frequency of SMN1-related spinal muscular atrophy in north Indian population: The need for population based screening programMayank Nilay, Amita Moirangthem, Deepti Saxena, et al.
Indian Journal of Pediatrics|April 3, 2020
Distal Arthrogryposis: A Clue to the Etiology of Neonatal CholestasisArchana Rai, Kausik Mandal, Deepti Saxena, et al.
Clinical Genetics|October 18, 2023
Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literatureAmit K Tiwari, Varunvenkat M Srinivasan, Shubha R Phadke, et al.
Romanian Journal of Ophthalmology|February 12, 2025
Clinical Features and Epidemiological Insights of Acute Epidemic Conjunctivitis: A Multicentric Cross-Sectional Study in North Central IndiaAnkita Aishwarya, Amit Agarwal, Deepti Saxena, et al.
Journal of Genetics|April 5, 2019
Cytogenetic microarray in structurally normal and abnormal foetuses: a five year experience elucidating increasing acceptance and clinical utilityMeenakshi Lallar, Priyanka Srivastava, Archana Rai, et al.
Prenatal Diagnosis|March 25, 2023
Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome dataDeepti Saxena, Somya Srivastava, Rajesh K Maurya, et al.
Clinical Genetics|April 30, 2025
Spectrum of Inherited Childhood-Onset Dystonia: Case Series of 19 Families With Genotype and Phenotype Characterization Highlighting the Treatable CausesNaik Adarsha, Arya Shambhavi, Haseena Sait, et al.
Clinical Dysmorphology|November 30, 2021
Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variantsAmita Moirangthem, Deepti Saxena, Suzena Masih, et al.
Fetal and Pediatric Pathology|November 25, 2021
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic InheritanceSomya Srivastava, Rani Manisha, Aradhana Dwivedi, et al.
Pageof 5