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Udhaya Kotecha

Showing results (1-10 of 17) with videos related to

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Clinical Dysmorphology|November 6, 2025
Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomaliesGayatri Nerakh, Prashanth Rao Dhareneni, Udhaya Kotecha
American Journal of Medical Genetics. Part A|November 2, 2022
Expanding the spectrum of ADNP-related disorder-Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP genePrashant Asegaonkar, Udhaya Kotecha, Mayuresh Dongre, et al.
Clinical Genetics|August 23, 2021
Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second familyUdhaya Kotecha, Mehul Mistri, Nidhi Shah, et al.
Indian Journal of Pediatrics|July 27, 2012
Survival analysis of Down syndrome cohort in a tertiary health care center in IndiaRisha Nahar, Udhaya Kotecha, Ratna Dua Puri, et al.
Neurology India|March 28, 2025
Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic BoundariesHari Shankar Kumar, Nidhi Shah, Parth Shah, et al.
Clinical Genetics|January 4, 2025
A Splice Site Variant in SENP7 Results in a Severe Form of ArthrogryposisUdhaya Kotecha, Euri S Kim, Parth S Shah, et al.
American Journal of Medical Genetics. Part A|August 8, 2015
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literatureYonit A Addissie, Udhaya Kotecha, Rachel A Hart, et al.
American Journal of Medical Genetics. Part A|May 21, 2016
Is the diagnostic yield influenced by the indication for fetal autopsy?Ratna Dua Puri, Udhaya Kotecha, Meena Lall, et al.
Bone Reports|March 24, 2025
A novel SGMS2 mutation associated with high bone mass; description of an affected family with recurrent fragility fracturesShinjan Patra, Sweekruti Jena, Ketki Kedar, et al.
Rheumatology International|August 24, 2024
Profile of juvenile systemic lupus erythematosus patients with a special reference to monogenic lupus and lupus nephritis: a cross-sectional studySagar Bhattad, Neha Singh, Jyothi Janardhanan, et al.
Pageof 2

Showing results (1-10 of 17) with videos related to

Sort By:
Pageof 2
Clinical Dysmorphology|November 6, 2025
Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomaliesGayatri Nerakh, Prashanth Rao Dhareneni, Udhaya Kotecha
American Journal of Medical Genetics. Part A|November 2, 2022
Expanding the spectrum of ADNP-related disorder-Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP genePrashant Asegaonkar, Udhaya Kotecha, Mayuresh Dongre, et al.
Clinical Genetics|August 23, 2021
Bi-allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second familyUdhaya Kotecha, Mehul Mistri, Nidhi Shah, et al.
Indian Journal of Pediatrics|July 27, 2012
Survival analysis of Down syndrome cohort in a tertiary health care center in IndiaRisha Nahar, Udhaya Kotecha, Ratna Dua Puri, et al.
Neurology India|March 28, 2025
Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic BoundariesHari Shankar Kumar, Nidhi Shah, Parth Shah, et al.
Clinical Genetics|January 4, 2025
A Splice Site Variant in SENP7 Results in a Severe Form of ArthrogryposisUdhaya Kotecha, Euri S Kim, Parth S Shah, et al.
American Journal of Medical Genetics. Part A|August 8, 2015
Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literatureYonit A Addissie, Udhaya Kotecha, Rachel A Hart, et al.
American Journal of Medical Genetics. Part A|May 21, 2016
Is the diagnostic yield influenced by the indication for fetal autopsy?Ratna Dua Puri, Udhaya Kotecha, Meena Lall, et al.
Bone Reports|March 24, 2025
A novel SGMS2 mutation associated with high bone mass; description of an affected family with recurrent fragility fracturesShinjan Patra, Sweekruti Jena, Ketki Kedar, et al.
Rheumatology International|August 24, 2024
Profile of juvenile systemic lupus erythematosus patients with a special reference to monogenic lupus and lupus nephritis: a cross-sectional studySagar Bhattad, Neha Singh, Jyothi Janardhanan, et al.
Pageof 2