Parag M. Tamhankar

Ecstasy Business Park
Mumbai, MH, India

Last Updated: 09/26/2026

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Found 45 publications

Resistant Epilepsy and Developmental Delay in a Syndromic Infant: A Case of Congenital Disorder of Glycosylation Type Ik From India.

Resistant Epilepsy and Developmental Delay in a Syndromic Infant: A Case of Congenital Disorder of Glycosylation Type Ik From India.

Journal: Cureus

Published: April 28, 2026

Transient Neonatal Diabetes Mellitus Potentially Associated With a Novel Homozygous MS4A6A Gene Variant: A Case Report.

Transient Neonatal Diabetes Mellitus Potentially Associated With a Novel Homozygous MS4A6A Gene Variant: A Case Report.

Journal: Cureus

Published: January 14, 2026

Homozygous Nonsense Variant in the GJA4 Gene Associated With Increased Fetal Nuchal Fold Thickness and Abnormal Fetal Ductus Venosus Termination: A Case Report.

Homozygous Nonsense Variant in the GJA4 Gene Associated With Increased Fetal Nuchal Fold Thickness and Abnormal Fetal Ductus Venosus Termination: A Case Report.

Journal: Cureus

Published: November 16, 2025

Mendelian susceptibility to mycobacterial disease: Clinical, immunological, and genetic study in India.

Mendelian susceptibility to mycobacterial disease: Clinical, immunological, and genetic study in India.

Journal: Journal of human immunity

Published: July 12, 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

Clinical, Genetic, and Immunological Spectrum of CHAI and LATAIE Patients from a Tertiary Referral Centre in India.

Clinical, Genetic, and Immunological Spectrum of CHAI and LATAIE Patients from a Tertiary Referral Centre in India.

Journal: International journal of molecular sciences

Published: June 30, 2025

Report of a Homozygous Nonsense Variant in the WDR91 Gene Associated With Severe Communicating Hydrocephalus, Dandy Walker Malformation, and Cerebellar Hypoplasia.

Report of a Homozygous Nonsense Variant in the WDR91 Gene Associated With Severe Communicating Hydrocephalus, Dandy Walker Malformation, and Cerebellar Hypoplasia.

Journal: American journal of medical genetics. Part A

Published: March 13, 2025

The First Known Case Report of a Novel Homozygous Nonsense Variant in the OSBPL9 Gene Associated With Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex.

The First Known Case Report of a Novel Homozygous Nonsense Variant in the OSBPL9 Gene Associated With Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex.

Journal: Cureus

Published: March 04, 2025

Child with KBG syndrome.

Child with KBG syndrome.

Journal: BMJ case reports

Published: December 04, 2024

The First Case Report of a Homozygous Consensus Acceptor Splice Variant in the NUP214 Gene Associated With Fetal Hydrops and Arthrogryposis Multiplex.

The First Case Report of a Homozygous Consensus Acceptor Splice Variant in the NUP214 Gene Associated With Fetal Hydrops and Arthrogryposis Multiplex.

Journal: Cureus

Published: November 07, 2024

A Rare Co-occurrence of Williams Syndrome and 𝘛𝘕𝘒2 Gene-Related Epilepsy.

A Rare Co-occurrence of Williams Syndrome and 𝘛𝘕𝘒2 Gene-Related Epilepsy.

Journal: Cureus

Published: October 03, 2024

A Chromosomal Microarray Detects Microdeletion at Chromosome Locus 11p14.3-p12 Leading to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation (WAGR) Syndrome.

A Chromosomal Microarray Detects Microdeletion at Chromosome Locus 11p14.3-p12 Leading to Wilms Tumor, Aniridia, Genitourinary Anomalies, and Mental Retardation (WAGR) Syndrome.

Journal: Cureus

Published: September 20, 2024

Showing 1-12 of 45

Last Updated: 09/26/2026