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Sujatha Jagadeesh

Showing results (21-30 of 38) with videos related to

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Clinical Genetics|February 14, 2021
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failureMaryam Rezaei, Beena Suresh, Eric Bereke, et al.
American Journal of Medical Genetics. Part A|January 28, 2017
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutationsSmrithi Salian, Tae-Joon Cho, Shubha R Phadke, et al.
Indian Journal of Pediatrics|July 5, 2026
Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing CountrySwasti Pal, Sunita Bijarnia-Mahay, Sheela Nampoothiri, et al.
Clinical Genetics|November 6, 2018
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndromePuneeth H Somashekar, Katta M Girisha, Sheela Nampoothiri, et al.
Human Genetics|January 25, 2023
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataractTamara Jarayseh, Brecht Guillemyn, Hanna De Saffel, et al.
Neuromuscular Disorders : NMD|March 20, 2021
Late onset Pompe Disease in India - Beyond the Caucasian phenotypeRatna Dua Puri, Nitika Setia, Vinu N, et al.
Indian Journal of Pediatrics|July 10, 2026
Organic Acidemias in India: Clinical and Molecular SpectrumSunita Bijarnia-Mahay, Deepti Gupta, Ratna D Puri, et al.
European Journal of Human Genetics : EJHG|March 29, 2025
Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypesFrederike L Harms, Christian Müller, Fanny Kortüm, et al.
Endocrine|September 19, 2020
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from IndiaPriyanka Gangodkar, Vaman Khadilkar, P Raghupathy, et al.
JIMD Reports|November 18, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patientsSheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, et al.
Pageof 4

Showing results (21-30 of 38) with videos related to

Sort By:
Pageof 4
Clinical Genetics|February 14, 2021
Novel pathogenic variants in NLRP7, NLRP5, and PADI6 in patients with recurrent hydatidiform moles and reproductive failureMaryam Rezaei, Beena Suresh, Eric Bereke, et al.
American Journal of Medical Genetics. Part A|January 28, 2017
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutationsSmrithi Salian, Tae-Joon Cho, Shubha R Phadke, et al.
Indian Journal of Pediatrics|July 5, 2026
Impact of Enzyme Replacement Therapy on Patients with Late Onset Pompe Disease - Real World Data from a Developing CountrySwasti Pal, Sunita Bijarnia-Mahay, Sheela Nampoothiri, et al.
Clinical Genetics|November 6, 2018
Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndromePuneeth H Somashekar, Katta M Girisha, Sheela Nampoothiri, et al.
Human Genetics|January 25, 2023
A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataractTamara Jarayseh, Brecht Guillemyn, Hanna De Saffel, et al.
Neuromuscular Disorders : NMD|March 20, 2021
Late onset Pompe Disease in India - Beyond the Caucasian phenotypeRatna Dua Puri, Nitika Setia, Vinu N, et al.
Indian Journal of Pediatrics|July 10, 2026
Organic Acidemias in India: Clinical and Molecular SpectrumSunita Bijarnia-Mahay, Deepti Gupta, Ratna D Puri, et al.
European Journal of Human Genetics : EJHG|March 29, 2025
Novel biallelic COL25A1 variants broaden the clinical spectrum from congenital cranial dysinnervation disorders to fetal lethal phenotypesFrederike L Harms, Christian Müller, Fanny Kortüm, et al.
Endocrine|September 19, 2020
Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from IndiaPriyanka Gangodkar, Vaman Khadilkar, P Raghupathy, et al.
JIMD Reports|November 18, 2020
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patientsSheela Nampoothiri, Dhanya Yesodharan, Amrita Bhattacherjee, et al.
Pageof 4