Search Results - "genetic testing"

Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report by Zuzana Kolkova, Peter Durdik, Peter Durdik, Veronika Holubekova, Anna Durdikova, Anna Durdikova, Milos Jesenak, Milos Jesenak, Milos Jesenak, Milos Jesenak, Peter Banovcin, Peter Banovcin

Connect to this object online.

Lymphangioleiomyomatosis: differential diagnosis and optimal management by Xu KF, Lo BH

Connect to this object online.

Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports by Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi

Connect to this object online.

Simultaneous Presentation of Autoimmune Hepatitis and Wilson's Disease: A Systematic Review Study by Fatemeh Famouri, Hossein Saneian, Majid Khademian, Silva Hovsepian, Peiman Nasri, Azar Jafari-Koulaee, Seyed Esmaeil Hosseini-Kordkhyli

Connect to this object online.

Diagnostic and Therapeutic Challenges of Hereditary Tyrosinemia Type 1 in Lebanon: A 12-Year Retrospective Review by Karim N. Daou, Abir Barhoumi, Abir Barhoumi, Amina Bassyouni, Pascale E. Karam, Pascale E. Karam

Connect to this object online.

Mosaic embryo transfer-first report of a live born with nonmosaic partial aneuploidy and uniparental disomy 15 by Kamilla Schlade-Bartusiak, Ph.D, Emma Strong, Ph.D, Olive Zhu, M.Sc, Jessica Mackie, M.Sc, Diane Salema, M.Sc, Michael Volodarsky, Ph.D, Jeffrey Roberts, M.D, Michelle Steinraths, M.D

Connect to this object online.

Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review by Hui Bo, Hui Bo, Lihong Jiang, Jiaqi Zheng, Jie Sun

Connect to this object online.

Informing the Design of Direct-to-Consumer Interactive Personal Genomics Reports by Shaer, Orit, Nov, Oded, Okerlund, Johanna, Balestra, Martina, Stowell, Elizabeth, Ascher, Laura, Bi, Joanna, Schlenker, Claire, Ball, Madeleine

Connect to this object online.

Communicating PNPLA3 genetic risk status for NAFLD among Mexican-origin men by Edgar A. Villavicencio, Adriana Maldonado, Rebecca M. Crocker, Yue Guan, Chris Stallman, David O. Garcia

Connect to this object online.

The impact of low oocyte maturity ratio on blastocyst euploidy rate: a matched retrospective cohort study by Zhanhui Ou, Jing Du, Nengqing Liu, Xiaowu Fang, Xiaojun Wen, Jieliang Li, Xiufeng Lin

Connect to this object online.

A cost-effectiveness analysis of pre-pregnancy genetic screening for deafness: an empirical study in China by Yipeng Lv, Zhili Wang, Zhili Wang, Zhili Wang, Ling Yuan, Fan Cheng, Hao Wu, Hao Wu, Hao Wu, Zhaoxin Wang, Tao Yang, Tao Yang, Tao Yang, Ying Chen, Ying Chen, Ying Chen

Connect to this object online.

Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review by Maria Anna Siano, Claudia Mandato, Lucia Nazzaro, Gennaro Iannicelli, Gian Paolo Ciccarelli, Ferdinando Barretta, Ferdinando Barretta, Cristina Mazzaccara, Cristina Mazzaccara, Margherita Ruoppolo, Margherita Ruoppolo, Giulia Frisso, Giulia Frisso, Carlo Baldi, Salvatore Tartaglione, Francesco Di Salle, Daniela Melis, Daniela Melis, Pietro Vajro, Pietro Vajro, Pietro Vajro

Connect to this object online.

Clinical Significance of UGT1A1 Genetic Analysis in Chinese Neonates with Severe Hyperbilirubinemia by Hui Yang, Qian Wang, Lei Zheng, Xiang-bin Zheng, Min Lin, Xiao-Fen Zhan, Li-Ye Yang

Connect to this object online.

Case Report: Profound newborn leukopenia related to a novel RAC2 variant by Geoffrey Hall, Ágnes Donkó, Cristina Pratt, Julie J. Kim-Chang, Paul L. Martin, Amy P. Stallings, John W. Sleasman, Steven M. Holland, Amy P. Hsu, Thomas L. Leto, Talal Mousallem

Connect to this object online.

Phelan-McDermid Syndrome in Pediatric Patients With Novel Mutations: Genetic and Phenotypic Analyses by Liang Chen, Zhi-ye Yao, Xiangtao Wu, Shao-ru He, Yu-mei Liu, Xue-yan Wang, De-zhi Cao, Xing-kun Yang, Jian-bo Zhao, Zi Ren, Hong Li, Zheng Pei, Hong-ke Ding, Zhi-chun Feng

Connect to this object online.

Embryo cryopreservation and utilization in the United States from 2004-2013 by Mindy S. Christianson, M.D, Judy E. Stern, Ph.D, Fangbai Sun, M.P.H, Heping Zhang, Ph.D, Aaron K. Styer, M.D, Wendy Vitek, M.D, Alex J. Polotsky, M.D

Connect to this object online.

Evaluation of inherited germline mutations in cancer susceptibility genes among pancreatic cancer patients: a single-center study by Francesca Tavano, Domenica Gioffreda, Andrea Fontana, Orazio Palmieri, Annamaria Gentile, Tiziana Latiano, Anna Latiano, Tiziana Pia Latiano, Matteo Scaramuzzi, Evaristo Maiello, Francesca Bazzocchi, Francesco Perri

Connect to this object online.

Accelerating rare disease detection: an experience of multidisciplinary team model in undiagnosed diseases program in a children's hospital by Yu Shi, Shijian Miao, Yuan Yuan, Yang Fu, Chengjun Sun, Hongsheng Wang, MengMeng Ge, Dongyun Li, Guomei Shen, Xuan Gao, Xiaowen Zhai

Connect to this object online.

Epstein-Barr virus-related hemophagocytic lymphohistiocytosis complicated with coronary artery dilation and acute renal injury in a boy with a novel X-linked inhibitor of apoptosis... by Ru-Yue Chen, Xiao-Zhong Li, Qiang Lin, Yun Zhu, Yun-Yan Shen, Qin-Ying Xu, Xue-Ming Zhu, Zhen-Jiang Bai, Ying Li

Connect to this object online.

Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis by Paula Fernanda Silva Fonseca, Rodolfo Delfini Cançado, Flavio Augusto Naoum, Carla Luana Dinardo, Guilherme Henrique Hencklain Fonseca, Sandra Fatima Menosi Gualandro, José Eduardo Krieger, Alexandre Costa Pereira, Pierre Brissot, Paulo Caleb Junior Lima Santos

Connect to this object online.