Severe caudal regression syndrome with overlapping features of VACTERL complex: antenatal detection and follow up

por Kanagasabai, K, Bhat, Venkatraman, Pramod, GK, Patil, Siddaramappa J, Kiranmayi, S
Publicado 2016

Late Onset Subacute Profound Biotinidase Deficiency Caused by a Novel Homozygous Variant c.466-3T>G in the BTD Gene

por Mohite, Kaustubh, Nair, Karthik Vijay, Sapare, Anilkumar, Bhat, Venkatraman, Shukla, Anju, Kekatpure, Minal, Patil, Siddaramappa J.
Publicado 2022

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

por Nayak, Shalini S., Schneeberger, Pauline E., Patil, Siddaramappa J., Arun, Karegowda M., Suresh, Pujar V., Kiran, Viralam S., Siddaiah, Sateesh, Maiya, Shreesha, Venkatachalagupta, Shrikanth K., Kausthubham, Neethukrishna, Kortüm, Fanny, Rau, Isabella, Wey-Fabrizius, Alexandra, Van Den Heuvel, Lotte, Meester, Josephina, Van Laer, Lut, Shukla, Anju, Loeys, Bart, Girisha, Katta M., Kutsche, Kerstin
Publicado 2021