Genetic disorders with heterotopic ossificans

por Sankar, Ruthiramurthy, Gowrishankar, Kalpana, Viswanathan, Saraswati
Publicado 2015

Isochromosome X mosaicism in a child with Kabuki syndrome phenotype: A rare cytogenetic association

por Kumar, Jeevan M., Gowrishankar, Kalpana, Vasanthi, T., Kumar, R. Ashok, Jayasudha, T.
Publicado 2011

Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome

por Fukushima, Kaya, Parthasarathy, Padmini, Wade, Emma M., Morgan, Tim, Gowrishankar, Kalpana, Markie, David M., Robertson, Stephen P.
Publicado 2021

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

por Athota, Jeevana Praharsha, Bhat, Meenakshi, Nampoothiri, Sheela, Gowrishankar, Kalpana, Narayanachar, Sanjeeva Ghanti, Puttamallesh, Vinuth, Farooque, Mohammed Oomer, Shetty, Swathi
Publicado 2020

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

por Hu, Ying, Chen, I-Ping, de Almeida, Salome, Tiziani, Valdenize, Do Amaral, Cassio M. Raposo, Gowrishankar, Kalpana, Passos-Bueno, Maria Rita, Reichenberger, Ernst J.
Publicado 2013

Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ h...

por Mohan, Shruthi, Koshy, Teena, Vekatachalam, Perumal, Nampoothiri, Sheela, Yesodharan, Dhanya, Gowrishankar, Kalpana, Kumar, Jeevan, Ravichandran, Latha, Joseph, Santhosh, Chandrasekaran, Anupama, Paul, Solomon F. D.
Publicado 2016

Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

por Guo, Long, Iida, Aritoshi, Bhavani, Gandham SriLakshmi, Gowrishankar, Kalpana, Wang, Zheng, Xue, Jing-yi, Wang, Juan, Miyake, Noriko, Matsumoto, Naomichi, Hasegawa, Takanori, Iizuka, Yusuke, Matsuda, Masashi, Nakashima, Tomoki, Takechi, Masaki, Iseki, Sachiko, Yambe, Shinsei, Nishimura, Gen, Koseki, Haruhiko, Shukunami, Chisa, Girisha, Katta M., Ikegawa, Shiro
Publicado 2021