Udhaya H. Kotecha

Ahmedabad, UP, India

Last Updated: 09/26/2026

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Found 24 publications

The Utility of Face2Gene App for Syndrome Recognition in Indian Children with Dysmorphism.

The Utility of Face2Gene App for Syndrome Recognition in Indian Children with Dysmorphism.

Journal: Indian journal of pediatrics

Published: July 30, 2025

Novel Homozygous Exonic Deletion of the TMEM17 Gene Associated With Meckel-Gruber Syndrome Phenotype.

Novel Homozygous Exonic Deletion of the TMEM17 Gene Associated With Meckel-Gruber Syndrome Phenotype.

Journal: American journal of medical genetics. Part A

Published: July 06, 2025

Binder Phenotype: Evaluating the Utility and Influence of Genetic Results on Parental Decision Making in Antenatally Diagnosed Cases.

Binder Phenotype: Evaluating the Utility and Influence of Genetic Results on Parental Decision Making in Antenatally Diagnosed Cases.

Journal: American journal of medical genetics. Part A

Published: June 02, 2025

Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomalies.

Recurrent RAC3 related neuro-rachopathy in a pair of Indian siblings with novel findings: expanding the spectrum of brain anomalies.

Journal: Clinical dysmorphology

Published: April 18, 2025

A novel SGMS2 mutation associated with high bone mass; description of an affected family with recurrent fragility fractures.

A novel SGMS2 mutation associated with high bone mass; description of an affected family with recurrent fragility fractures.

Journal: Bone reports

Published: November 14, 2024

A Splice Site Variant in SENP7 Results in a Severe Form of Arthrogryposis.

A Splice Site Variant in SENP7 Results in a Severe Form of Arthrogryposis.

Journal: Clinical genetics

Published: October 22, 2024

Clinical and molecular profile of 20 patients with DOCK8 deficiency-a single-center experience from Southern India.

Clinical and molecular profile of 20 patients with DOCK8 deficiency-a single-center experience from Southern India.

Journal: Immunologic research

Published: August 02, 2024

Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.

Whole Genome Sequencing-Based Diagnosis of Spinocerebellar Ataxia Type 3 Repeat Expansion Neuromuscular Disorders in an Undiagnosed Patient: Breaking Past Diagnostic Boundaries.

Journal: Neurology India

Published: July 15, 2024

Profile of juvenile systemic lupus erythematosus patients with a special reference to monogenic lupus and lupus nephritis: a cross-sectional study.

Profile of juvenile systemic lupus erythematosus patients with a special reference to monogenic lupus and lupus nephritis: a cross-sectional study.

Journal: Rheumatology international

Published: June 20, 2024

Profile of 208 patients with inborn errors of immunity at a tertiary care center in South India.

Profile of 208 patients with inborn errors of immunity at a tertiary care center in South India.

Journal: Clinical and experimental medicine

Published: June 01, 2023

Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting.

Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting.

Journal: European journal of medical genetics

Published: October 29, 2022

Expanding the spectrum of ADNP-related disorder-Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene.

Expanding the spectrum of ADNP-related disorder-Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene.

Journal: American journal of medical genetics. Part A

Published: June 11, 2022

Showing 1-12 of 24

Last Updated: 09/26/2026