Gayatri Nerakh

Hyderabad, TG, India

Last Updated: 09/26/2026

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Found 15 publications

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Atypical Prenatal Phenotypic Spectrum: A Case Series of Four Unique Presentations With Genetic and Diagnostic Insights.

Journal: Clinical genetics

Published: February 19, 2026

Expanding the Phenotypic Spectrum of Syndromic Arthrogryposis Multiplex Congenita: Role of Biallelic Variants in COL25A1 Across Fetal and Pediatric Periods.

Expanding the Phenotypic Spectrum of Syndromic Arthrogryposis Multiplex Congenita: Role of Biallelic Variants in COL25A1 Across Fetal and Pediatric Periods.

Journal: Indian journal of pediatrics

Published: July 30, 2025

Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder.

Prenatal and postnatal findings in cerebellofaciodental syndrome: a rare genetic disorder.

Journal: Clinical dysmorphology

Published: July 14, 2025

SENP7-Related Fatal Arthrogryposis Multiplex Congenita and Immunodeficiency: A Novel Missense Variation and Syndromic Delineation.

SENP7-Related Fatal Arthrogryposis Multiplex Congenita and Immunodeficiency: A Novel Missense Variation and Syndromic Delineation.

Journal: Clinical genetics

Published: July 05, 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

Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndrome.

Nephrocalcinosis, distal renal tubular acidosis and skeletal abnormality in two siblings with ROGDI -related Kohlschütter-Tönz syndrome.

Journal: Clinical dysmorphology

Published: October 24, 2024

A Practical, Systematic Approach to Genetic Diagnosis in a Fetus or Neonate with Congenital Anomalies.

A Practical, Systematic Approach to Genetic Diagnosis in a Fetus or Neonate with Congenital Anomalies.

Journal: NeoReviews

Published: February 22, 2024

A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome.

A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome.

Journal: Brain & development

Published: December 01, 2022

A Floppy Infant with Facial Dysmorphism.

A Floppy Infant with Facial Dysmorphism.

Journal: NeoReviews

Published: December 31, 2021

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.

Microcephalic primordial dwarfism with predominant Meier-Gorlin phenotype, ichthyosis, and multiple joint deformities-Further expansion of DONSON Cell Cycle-opathy phenotypic spectrum.

Journal: American journal of medical genetics. Part A

Published: September 08, 2021

Antenatal Indomethacin Use Altering the Initial Presentation of Type 4A Bartter Syndrome.

Antenatal Indomethacin Use Altering the Initial Presentation of Type 4A Bartter Syndrome.

Journal: Indian journal of pediatrics

Published: March 01, 2021

An Infant with Blended Phenotype of Zellweger Spectrum Disorder and Congenital Muscular Dystrophy.

An Infant with Blended Phenotype of Zellweger Spectrum Disorder and Congenital Muscular Dystrophy.

Journal: Annals of Indian Academy of Neurology

Published: November 20, 2020

Showing 1-12 of 15

Last Updated: 09/26/2026