日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia

248名印度骨骼发育不良患者的遗传和等位基因异质性

Jacob, Prince; Singh, Swati; Bhavani, Gandham SriLakshmi; Gowrishankar, Kalpana; Narayanan, Dhanya Lakshmi; Nampoothiri, Sheela; Patil, S J; Soni, J P; Muranjan, Mamta; Kapoor, Seema; Dhingra, Bhavna; Bhat, Ballambattu Vishnu; Bajaj, Shruti; Banerjee, Amrita; Mamadapur, Mahabaleshwar; Hariharan, Sankar V; Kamath, Nutan; Shenoy, Rathika D; Suri, Deepti; Shukla, Anju; Dalal, Ashwin; Phadke, Shubha R; Nishimura, Gen; Mortier, Geert; Shah, Hitesh; Girisha, Katta M

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

对 107 例携带 PTPN11 基因突变的努南综合征患者进行分子和临床研究

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

Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence in situ hybridization (FISH)

印度特发性智力障碍/发育迟缓儿童的亚端粒重排:利用荧光原位杂交(FISH)进行频率估计和临床相关性分析

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

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

对与 TREX1、RNASEH2A、RNASEH2B、RNASEH2C、SAMHD1、ADAR 和 IFIH1 基因突变相关的人类疾病表型进行表征

Crow, Yanick J; Chase, Diana S; Lowenstein Schmidt, Johanna; 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; Billette de Villemeur, Thierry; 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; Sierra Corcoles, Concepcion; 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; Marques Lourenço, Charles; 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; te Water Naude, Johann; Wee Teik, Keng; 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

Genetic disorders with heterotopic ossificans

异位骨化症的遗传性疾病

Sankar, Ruthiramurthy; Gowrishankar, Kalpana; Viswanathan, Saraswati

A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.

一种与颅骨干骺端发育不良相关的新型常染色体隐性遗传 GJA1 错义突变

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