Genetic disorders with heterotopic ossificans

بواسطة Sankar, Ruthiramurthy, Gowrishankar, Kalpana, Viswanathan, Saraswati
الحاوية / القاعدة Indian J Orthop (2015)

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

بواسطة Kumar, Jeevan M., Gowrishankar, Kalpana, Vasanthi, T., Kumar, R. Ashok, Jayasudha, T.
منشور في 2011

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

بواسطة Fukushima, Kaya, Parthasarathy, Padmini, Wade, Emma M., Morgan, Tim, Gowrishankar, Kalpana, Markie, David M., Robertson, Stephen P.
الحاوية / القاعدة Genes (Basel) (2021)

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

بواسطة Athota, Jeevana Praharsha, Bhat, Meenakshi, Nampoothiri, Sheela, Gowrishankar, Kalpana, Narayanachar, Sanjeeva Ghanti, Puttamallesh, Vinuth, Farooque, Mohammed Oomer, Shetty, Swathi
الحاوية / القاعدة BMC Med Genet (2020)

A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia

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

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

بواسطة Mohan, Shruthi, Koshy, Teena, Vekatachalam, Perumal, Nampoothiri, Sheela, Yesodharan, Dhanya, Gowrishankar, Kalpana, Kumar, Jeevan, Ravichandran, Latha, Joseph, Santhosh, Chandrasekaran, Anupama, Paul, Solomon F. D.
الحاوية / القاعدة Indian J Med Res (2016)

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

بواسطة 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
الحاوية / القاعدة Nat Commun (2021)

Characterization of Human Disease Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

بواسطة Crow, Yanick J., Chase, Diana S., Schmidt, Johanna Lowenstein, Szynkiewicz, Marcin, Forte, Gabriella M.A., Gornall, Hannah L., Oojageer, Anthony, Anderson, Beverley, Pizzino, Amy, Helman, Guy, Abdel-Hamid, Mohamed S., Abdel-Salam, Ghada M., Ackroyd, Sam, Aeby, Alec, Agosta, Guillermo, Albin, Catherine, Allon-Shalev, Stavit, Arellano, Montse, Ariaudo, Giada, Aswani, Vijay, Babul-Hirji, Riyana, Baildam, Eileen M., Bahi-Buisson, Nadia, Bailey, Kathryn M., Barnerias, Christine, Barth, Magalie, Battini, Roberta, Beresford, Michael W., Bernard, Geneviève, Bianchi, Marika, de Villemeur, Thierry Billette, Blair, Edward M., Bloom, Miriam, Burlina, Alberto B., Carpanelli, Maria Luisa, Carvalho, Daniel R., Castro-Gago, Manuel, Cavallini, Anna, Cereda, Cristina, Chandler, Kate E., Chitayat, David A., Collins, Abigail E., Corcoles, Concepcion Sierra, Cordeiro, Nuno J.V., Crichiutti, Giovanni, Dabydeen, Lyvia, Dale, Russell C., D’Arrigo, Stefano, De Goede, Christian G.E.L., De Laet, Corinne, De Waele, Liesbeth M.H., Denzler, Ines, Desguerre, Isabelle, Devriendt, Koenraad, Di Rocco, Maja, Fahey, Michael C., Fazzi, Elisa, Ferrie, Colin D., Figueiredo, António, Gener, Blanca, Goizet, Cyril, Gowrinathan, Nirmala R., Gowrishankar, Kalpana, Hanrahan, Donncha, Isidor, Bertrand, Kara, Bülent, Khan, Nasaim, King, Mary D., Kirk, Edwin P., Kumar, Ram, Lagae, Lieven, Landrieu, Pierre, Lauffer, Heinz, Laugel, Vincent, La Piana, Roberta, Lim, Ming J., Lin, Jean-Pierre S.-M., Linnankivi, Tarja, Mackay, Mark T., Marom, Daphna R., Lourenço, Charles Marques, McKee, Shane A., Moroni, Isabella, Morton, Jenny E.V., Moutard, Marie-Laure, Murray, Kevin, Nabbout, Rima, Nampoothiri, Sheela, Nunez-Enamorado, Noemi, Oades, Patrick J., Olivieri, Ivana, Ostergaard, John R., Pérez-Dueñas, Belén, Prendiville, Julie S., Ramesh, Venkateswaran, Rasmussen, Magnhild, Régal, Luc, Ricci, Federica, Rio, Marlène, Rodriguez, Diana, Roubertie, Agathe, Salvatici, Elisabetta, Segers, Karin A., Sinha, Gyanranjan P., Soler, Doriette, Spiegel, Ronen, Stödberg, Tommy I., Straussberg, Rachel, Swoboda, Kathryn J., Suri, Mohnish, Tacke, Uta, Tan, Tiong Y., Naude, Johann te Water, Teik, Keng Wee, Thomas, Maya Mary, Till, Marianne, Tonduti, Davide, Valente, Enza Maria, Van Coster, Rudy Noel, van der Knaap, Marjo S., Vassallo, Grace, Vijzelaar, Raymon, Vogt, Julie, Wallace, Geoffrey B., Wassmer, Evangeline, Webb, Hannah J., Whitehouse, William P., Whitney, Robyn N., Zaki, Maha S., Zuberi, Sameer M., Livingston, John H., Rozenberg, Flore, Lebon, Pierre, Vanderver, Adeline, Orcesi, Simona, Rice, Gillian I.
الحاوية / القاعدة Am J Med Genet A (2015)