Zoekresultaten - "exome sequencing"

Trio-based whole exome sequencing in patients with ectopic posterior pituitary door Arthur Lyra, Itatiana Ferreira Rodart, Lara Barros, Tatiane Sousa e Silva, Antônio José da Rocha, Cristiane Kochi, Carlos Alberto Longui

Connect to this object online.

Whole‐exome sequencing analysis of juvenile papillomatosis and coexisting breast carcinoma door Timothy M D'Alfonso, Fresia Pareja, Arnaud Da Cruz Paula, Mahsa Vahdatinia, Andrea Gazzo, Lorenzo Ferrando, Edaise M da Silva, Esther Cheng, Lisa Sclafani, Sarat Chandarlapaty, Hong Zhang, Syed A Hoda, Hannah Y Wen, Edi Brogi, Britta Weigelt, Jorge S Reis‐Filho

Connect to this object online.

Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders door Zhu Xintong, Zhang Kexin, Wang Junwen, Wang Ziyi, Luo Na, Guo Hong

Connect to this object online.

Whole-Exome Sequencing: Is It a Panacea for Every Diagnostic Enigma in Clinical Medicine? door Kirtisudha Mishra

Connect to this object online.

Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis door Paula Cristina Barros Pereira, Flávia Medeiros Melo, Luiz Armando Cunha De Marco, Eduardo Araújo Oliveira, Débora Marques Miranda, Ana Cristina Simões e Silva

Connect to this object online.

Whole-exome sequencing identified recurrent and novel variants in benzene-induced leukemia door Dafeng Lin, Dianpeng Wang, Peimao Li, Lihua Deng, Zhimin Zhang, Yanfang Zhang, Ming Zhang, Naixing Zhang

Connect to this object online.

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis door Alain Calender, Pierre Antoine Rollat Farnier, Adrien Buisson, Stéphane Pinson, Abderrazzaq Bentaher, Serge Lebecque, Harriet Corvol, Rola Abou Taam, Véronique Houdouin, Claire Bardel, Pascal Roy, Gilles Devouassoux, Vincent Cottin, Pascal Seve, Jean-François Bernaudin, Clarice X. Lim, Thomas Weichhart, Dominique Valeyre, Yves Pacheco, Annick Clement, Nadia Nathan, in the frame of GSF (Groupe Sarcoïdose France)

Connect to this object online.

Correction: Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing door Perihan Hamdy Kassem, Iman Fawzy Montasser, Mohamed Ramy Mahmoud, Rasha Ahmed Ghorab, Dina A. AbdelHakam, Marium El Sayed Ahmad Fathi, Marwa A. Abdel Wahed, Khaled Mohey, Mariam Ibrahim, Mohamed El Hadidi, Yasmine M. Masssoud, Manar Salah, Arwa Abugable, Mohamad Bahaa, Sherif El Khamisy, Mahmoud El Meteini

Connect to this object online.

Whole-exome sequencing reveals the etiology of the rare primary hepatic mucoepidermoid carcinoma door Ping Hou, Xiaoyan Su, Wei Cao, Liping Xu, Rongguiyi Zhang, Zhihao Huang, Jiakun Wang, Lixiang Li, Linquan Wu, Wenjun Liao

Connect to this object online.

Non-familial cardiomyopathies in Lebanon: exome sequencing results for five idiopathic cases door Marwan M. Refaat, Sylvana Hassanieh, Jad A. Ballout, Patrick Zakka, Mostafa Hotait, Athar Khalil, Fadi Bitar, Mariam Arabi, Samir Arnaout, Hadi Skouri, Antoine Abchee, Bernard Abi-Saleh, Maurice Khoury, Andreas Massouras, Georges Nemer

Connect to this object online.

Whole‐exome sequencing as a diagnostic tool for distal renal tubular acidosis door Paula Cristina Barros Pereira, Flávia Medeiros Melo, Luiz Armando Cunha De Marco, Eduardo Araújo Oliveira, Débora Marques Miranda, Ana Cristina Simões e Silva

Connect to this object online.

Whole-exome sequencing reveals insights into genetic susceptibility to Congenital Zika Syndrome. door Victor Borda, Ronaldo da Silva Francisco Junior, Joseane B Carvalho, Guilherme L Morais, Átila Duque Rossi, Paula Pezzuto, Girlene S Azevedo, Bruno L Schamber-Reis, Elyzabeth A Portari, Adriana Melo, Maria Elisabeth L Moreira, Letícia C Guida, Daniela P Cunha, Leonardo Gomes, Zilton F M Vasconcelos, Fabio R Faucz, Amilcar Tanuri, Constantine A Stratakis, Renato S Aguiar, Cynthia Chester Cardoso, Ana Tereza Ribeiro de Vasconcelos

Connect to this object online.

Identification of potential causal variants for premature ovarian failure by whole exome sequencing door Haengun Jin, JuWon Ahn, YoungJoon Park, JeongMin Sim, Han Sung Park, Chang Soo Ryu, Nam Keun Kim, KyuBum Kwack

Connect to this object online.

Clinical use of whole exome sequencing in children with developmental delay/intellectual disability door Yoon Hee Jo, Soo Han Choi, Hye Won Yoo, Min Jung Kwak, Kyung Hee Park, Juhyun Kong, Yun-Jin Lee, Sang Ook Nam, Bo Lyun Lee, Woo Yeong Chung, Seung Hwan Oh, Young Mi Kim

Connect to this object online.

Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis door Wei Huang, Xiaofan Zhu, Gege Sun, Zhi Gao, Xiangdong Kong

Connect to this object online.

Mapping of the mutational landscape of Juvenile Myelomonocytic Leukemia patients by whole exome sequencing door Aditya Kumar Gupta, Ravi Kumar Majhi, Harsh Goel, Harshita Makkar, Anita Chopra, Pranay Tanwar, Jagdish Meena, Sameer Bakhshi, Rachna Seth

Connect to this object online.

mutations in identified by whole exome sequencing in 2 girls with Alport syndrome in Korea door Kyoung Hee Han, Jong Eun Park, Chang-Seok Ki

Connect to this object online.

Whole exome sequencing detects novel variants in Saudi children diagnosed with eczema door Neda M. Bogari, Amr A. Amin, Husni H. Rayes, Ahmed Abdelmotelb, Faisal A. Al-Allaf, Anas Dannoun, Hiba S. Al-Amodi, Anas A. Sedayo, Hilal Almalk, Amna Moulana, Rania Balkhair, Fatma Jambi, Fakhriah Madani, Mwafaq Abutalib, Mohiuddin M. Taher, Abdellatif Bouazzaoui, Ashwag Aljohani, Mustafa N. Bogari, Udaya Raja G.K, Ahmed Fawzy, Khalid Khalaf Alharbi, Imran Ali Khan

Connect to this object online.

Identification of Novel Gene variants in Patients with Alzheimer's Disease by Whole Exome Sequencing door Xiaodong Pan, Murong Yang, Jingjing Xiang, Qi Pan, Menghao Yang, Jing Xia, Lang Cui, Ruijie Luo, Qinlin Lou, Chen Zhou, Yiran He, Kuichun Zhu

Connect to this object online.

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa door Samantha Vernaschi Kelmann, Bruno de Oliveira Stephan, Silvia Maria de Macedo Barbosa, Rita Tiziana Verardo Polastrini, Zilda Najjar Prado de Oliveira, Maria Cecília Rivitti-Machado, Gustavo Marquezani Spolador, Rachel Sayuri Honjo, Ken Saida, Naomichi Matsumoto, Chong Ae Kim

Connect to this object online.