Rani Manisha
Noida, UP, India
Last Updated: 09/26/2026
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Found 10 publications
Integrating Face2Gene analysis in the diagnosis of Van den Ende-Gupta syndrome caused by a novel SCARF2 mutation with expanded skeletal and cardiac features.
Journal: Clinical dysmorphology
Published: May 28, 2026
Bile Duct Paucity in a Case of Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency: Finding the Missing Piece of the Puzzle!
Journal: Journal of clinical and experimental hepatology
Published: July 05, 2025
Fontaine progeroid syndrome into early adolescence: a case report.
Journal: Clinical dysmorphology
Published: June 18, 2025
Long-Term Outcomes of Disease Modifying Therapies in Gaucher Disease: Authors' Reply.
Journal: Indian journal of pediatrics
Published: June 13, 2025
Primary Coenzyme Q10 Deficiency Type 7: A Potentially Treatable Cause of Developmental Delay.
Journal: Neurology India
Published: May 26, 2025
Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review.
Journal: Clinical and experimental pediatrics
Published: April 19, 2025
Understanding and Managing Infantile PHGDH Deficiency: A Case Report.
Journal: Neurology India
Published: November 12, 2024
Mutation Analysis for Hemoglobinopathies in Eastern Jharkhand.
Journal: Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion
Published: March 01, 2024
Long-Term Outcomes of Disease Modifying Therapies in Gaucher Disease.
Journal: Indian journal of pediatrics
Published: May 04, 2023
Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance.
Journal: Fetal and pediatric pathology
Published: November 25, 2021
Showing 1-10 of 10
Last Updated: 09/26/2026