Search Results - "genetic testing"

Investigation of the role of X chromosome inactivation and androgen receptor CAG repeat polymorphisms in patients with recurrent pregnancy loss: a prospective case-control study by Yilun Sui, Jing Fu, Shuo Zhang, Lu Li, Xiaoxi Sun

Connect to this object online.

Diagnostic testing in people with primary ciliary dyskinesia: An international participatory study. by Leonie Daria Schreck, Eva Sophie Lunde Pedersen, Isabelle Cizeau, Loretta Müller, Catherine Kruljac, Jane S Lucas, Myrofora Goutaki, COVID-PCD patient advisory group, Claudia E Kuehni

Connect to this object online.

Infant with diffuse large B-cell lymphoma identified postmortem with homozygous founder Slavic RAG1 variant: a case report and literature review by Tatiana P. Volodashchik, Ekaterina A. Polyakova, Taisia M. Mikhaleuskaya, Inga S. Sakovich, Aleksandra N. Kupchinskaya, Aliaxandr Ch. Dubrouski, Mikhail V. Belevtsev, Joseph F. Dasso, Joseph F. Dasso, Dzmitry S. Varabyou, Luigi D. Notarangelo, Jolan E. Walter, Jolan E. Walter, Svetlana O. Sharapova

Connect to this object online.

Familial cases of subacute necrotizing encephalomyelopathy (Leigh syndrome) by E.V. Shishkina, T.N. Bazilevskaya, I.V. Novikova, I.V. Leonova, Yu.G. Astanina, I.I. Cheskidova, D.A. Maiseenko

Connect to this object online.

Novel Interactive Tool for Breast and Ovarian Cancer Risk Assessment (Bright Pink Assess Your Risk): Development and Usability Study by Elizabeth A Hibler, Angela J Fought, Kiarri N Kershaw, Rebecca Molsberry, Virginia Nowakowski, Deborah Lindner

Connect to this object online.

MPZL2-a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population by Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yuan

Connect to this object online.

Blastocyst score, a blastocyst quality ranking tool, is a predictor of blastocyst ploidy and implantation potential by Qiansheng Zhan, M.D., Ph.D, E.T. Sierra, Ph.D, Jonas Malmsten, Ph.D, Zhen Ye, M.S, Zev Rosenwaks, M.D, Nikica Zaninovic, Ph.D

Connect to this object online.

Trial Protocol: Communicating DNA-based risk assessments for Crohn's disease: a randomised controlled trial assessing impact upon stopping smoking by Armstrong David, Prevost A Toby, Hollands Gareth J, Sanderson Jeremy, Watts Sally, Forbes Alastair, Lewis Cathryn M, Mathew Christopher G, Whitwell Sophia CL, Kinmonth Ann, Sutton Stephen, Marteau Theresa M

Connect to this object online.

THE KILLER KETO DIET by Alyssa Zaidi, MD

Connect to this object online.

Clinical and Genetic Spectrum of Tubulinopathy: A Single-Center Study by Hey-Joon Son, Minhye Kim, Hye Jin Kim, Jae So Cho, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Jong-Hee Chae, Woo Joong Kim

Connect to this object online.

One Plus One is Better than Two: An Approach Towards a Single Blastocyst Transfer Policy for All IVF Patients by Pedro Felipe Magalhães Peregrino, Tatiana Carvalho de Souza Bonetti, Alecsandra Prado Gomes, Hamilton de Martin, José Maria Soares Júnior, Edmund Chada Baracat, Pedro Augusto Araújo Monteleone

Connect to this object online.

A novel delins (c.773_819+47delinsAA) mutation of the PCCA gene associated with neonatal-onset propionic acidemia: a case report by Hai-rong Wang, Yan-qiu Liu, Xue-lian He, Jun Sun, Fan-wei Zeng, Cheng-bin Yan, Hao Li, Shu-yang Gao, Yun Yang

Connect to this object online.

Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics by Kenneth D. Doig, Christopher G. Love, Thomas Conway, Andrei Seleznev, David Ma, Andrew Fellowes, Piers Blombery, Stephen B. Fox

Connect to this object online.

Data protection legislation in Africa and pathways for enhancing compliance in big data health research by Nchangwi Syntia Munung, Ciara Staunton, Otshepeng Mazibuko, P. J. Wall, Ambroise Wonkam

Connect to this object online.

Clinical and molecular characterization of Wilson's disease in China: identification of 14 novel mutations by De-Min Yu, Zhou Feng, Zang Guo-Qing, Xu Jie, Fu Qing-Chun, Ling Yun, Lu Yi, Li Xin-Hua, Han Yue, Zhang Dong-Hua, Gong Qi-Ming, Lu Zhi-Meng, Kong Xiao-Fei, Wang Jian-She, Zhang Xin-Xin

Connect to this object online.

Novel mutations in actionable breast cancer genes by targeted sequencing in an ethnically homogenous cohort by Hosneara Akter, Nasima Sultana, Nazrana Martuza, Aaysha Siddiqua, Nushrat Jahan Dity, Md. Atikur Rahaman, Bisan Samara, Ahmed Sayeed, Mohammed Basiruzzaman, Mohammad Mizanur Rahman, Md. Rashidul Hoq, Md. Robed Amin, Md. Abdul Baqui, Marc Woodbury-Smith, K. M. Furkan Uddin, Syed S. Islam, Rayhana Awwal, Bakhrom K. Berdiev, Mohammed Uddin

Connect to this object online.

The Pharmacogenetics of Statin Therapy on Clinical Events: No Evidence that Genetic Variation Affects Statin Response on Myocardial Infarction by Stella Trompet, Stella Trompet, Iris Postmus, Helen R. Warren, Helen R. Warren, Raymond Noordam, Raymond Noordam, Roelof A. J. Smit, Elizabeth Theusch, Xiaohui Li, Benoit Arsenault, Benoit Arsenault, Daniel I. Chasman, Daniel I. Chasman, Graham A. Hitman, Patricia B. Munroe, Patricia B. Munroe, Jerome I. Rotter, Bruce M. Psaty, Bruce M. Psaty, Bruce M. Psaty, Mark J. Caulfield, Mark J. Caulfield, Ron M. Krauss, Adrienne L. Cupples, Adrienne L. Cupples, Wouter J. Jukema, Wouter J. Jukema, Wouter J. Jukema

Connect to this object online.

Does the sex ratio of singleton births after frozen single blastocyst transfer differ in relation to blastocyst development? by Hua Lou, Na Li, Xiaoke Zhang, Ling Sun, Xingling Wang, Dayong Hao, Shihong Cui

Connect to this object online.

Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report by Vithiya Ratnasamy, Suganthan Navaneethakrishnan, Nirmala Dushyanthi Sirisena, Nana-Maria Grüning, Oliver Brandau, Kumanan Thirunavukarasu, Casey L. Dagnall, Lisa J. McReynolds, Sharon A. Savage, Vajira H. W. Dissanayake

Connect to this object online.

A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC) by Beatriz Azevedo Nunes, Ana Karolina Ferreira Gonçalves Romano, Mariana Aparecida Pasa Morgan, Alice Andrade Gonçalves, Laís Faria Masulk Cardozo, Luiz Gustavo Dufner de Almeida, Luciana Amaral Haddad, Ana Chrystina de Souza Crippa, Sergio Antonio Antoniuk, Kerstin Taniguchi Abagge

Connect to this object online.