Jagdeeshwar Ghatanatti
Mumbai, MH 400012, India
Last Updated: 09/26/2026
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Found 8 publications
A Rare Variant in RPS26 Gene Causing Variable Phenotype of Diamond-Blackfan Anemia Type 10 (DBA10) in an Indian Family.
Journal: Indian journal of pediatrics
Published: September 24, 2025
Phenotype puzzle: the role of novel LMBRD1 gene variant in Cbl deficiency causing Dyskeratosis Congenita-like clinical manifestations.
Journal: Journal of human genetics
Published: November 29, 2024
Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development.
Journal: Molecular human reproduction
Published: August 25, 2022
Synergetic effect of Azacitidine and Sorafenib in treatment of a case of myeloid neoplasm with sole chromosomal abnormality t(8;22)(p11.2;q11.2)/BCR-FGFR1 rearrangement.
Journal: Cancer genetics
Published: May 25, 2022
Correction to: Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations.
Journal: BMC medical genomics
Published: January 19, 2022
Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations.
Journal: BMC medical genomics
Published: May 31, 2021
array-CGH revealed gain of Yp11.2 in 49,XXXXY and gain of Xp22.33 in 48,XXYY karyotypes of two rare klinefelter variants.
Journal: Intractable & rare diseases research
Published: August 27, 2020
Showing 1-8 of 8
Last Updated: 09/26/2026