Search Results - "next generation sequencing"

Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives by Riccardo Castagnoli, Riccardo Castagnoli, Ottavia Maria Delmonte, Enrica Calzoni, Enrica Calzoni, Luigi Daniele Notarangelo

Connect to this object online.

Anlotinib treatment for rapidly progressing pediatric embryonal rhabdomyosarcoma in the maxillary gingiva: a case report by Bo Ding, Biwei Mai, Tingyan Liu, Cuicui Liu, Hairong Bao, Jingzhou Hu, Xiaowen Qian, Song Wang, Qiuxiang Ou, Xiujuan Dong, Zhixian Lei, Gangfeng Yan

Connect to this object online.

Clinical Characteristics and Genetic Etiology of Children With Developmental Language Disorder by Marielle B. Plug, Vivian van Wijngaarden, Hester de Wilde, Ellen van Binsbergen, Inge Stegeman, Inge Stegeman, Inge Stegeman, Marie-José H. van den Boogaard, Adriana L. Smit, Adriana L. Smit, Adriana L. Smit

Connect to this object online.

Novel variants of ABCA4 in Han Chinese families with Stargardt disease by Fang-Yuan Hu, Feng-Juan Gao, Jian-kang Li, Ping Xu, Dan-Dan Wang, Sheng-Hai Zhang, Ji-Hong Wu

Connect to this object online.

Genome update of the dimorphic human pathogenic fungi causing paracoccidioidomycosis. by José F Muñoz, Juan E Gallo, Elizabeth Misas, Margaret Priest, Alma Imamovic, Sarah Young, Qiandong Zeng, Oliver K Clay, Juan G McEwen, Christina A Cuomo

Connect to this object online.

Impact of lower uterine segment involvement in type II endometrial cancer and the unique mutational profile of serous tumors by Liron Kogan, David Octeau, Zainab Amajoud, Jeremie Abitbol, Ido Laskov, Alex Ferenczy, Manuela Pelmus, Neta Eisenberg, Roy Kessous, Susie Lau, Amber Yasmeen, Walter H. Gotlieb, Shannon Salvador

Connect to this object online.

IrSPI, a tick serine protease inhibitor involved in tick feeding and Bartonella henselae infection. by Xiang Ye Liu, Jose de la Fuente, Martine Cote, Ruth C Galindo, Sara Moutailler, Muriel Vayssier-Taussat, Sarah I Bonnet

Connect to this object online.

Low-grade oncocytic tumour (LOT) of the kidney is characterised by GATA3 positivity, FOXI1 negativity and mTOR pathway mutations by Tongbing Chen, Yan Peng, Ting Lei, Chao Wu, Hui Wang, Yongqiang Shi

Connect to this object online.

Sequencing of 231 forensic genetic markers using the MiSeq FGx™ forensic genomics system - an evaluation of the assay and software by Christian Hussing, Christina Huber, Rajmonda Bytyci, Helle S. Mogensen, Niels Morling, Claus Børsting

Connect to this object online.

Screening of Mutations in Maturity-onset Diabetes of the Young-related Genes and RFX6 in Children with Autoantibody-negative Type 1 Diabetes Mellitus by Enver Şimşek, Oğuz Çilingir, Tülay Şimşek, Sinem Kocagil, Ebru Erzurumluoğlu Gökalp, Meliha Demiral, Çiğdem Binay

Connect to this object online.

Multiple orthokeratinized odontogenic cysts: clinical, pathological, and genetic characteristics by Sawako Ono, Katsutoshi Hirose, Shintaro Sukegawa, Satoko Nakamura, Daisuke Motooka, Yuri Iwamoto, Yumiko Hori, Kaori Oya, Yasuo Fukuda, Satoru Toyosawa

Connect to this object online.

Whole-exome sequencing reveals Kawasaki disease susceptibility genes and their association with coronary artery lesion by Yazhou Wang, Xuepeng Chen, Dufei Zhang, Renwei Chen, Ailixiati Alifu

Connect to this object online.

Minimal Residual Disease Prior to and After Haematopoietic Stem Cell Transplantation in Children and Adolescents With Acute Lymphoblastic Leukaemia: What Level of Negativity Is Rel... by Pietro Merli, Marianne Ifversen, Tony H. Truong, Hanne V. Marquart, Jochen Buechner, Matthias Wölfl, Peter Bader

Connect to this object online.

Targeted therapeutic options in early and metastatic NSCLC-overview by Gabriella Gálffy, Éva Morócz, Réka Korompay, Réka Hécz, Réka Bujdosó, Rita Puskás, Tímea Lovas, Eszter Gáspár, Kamel Yahya, Péter Király, Zoltán Lohinai

Connect to this object online.

Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital by Miriam E. Imafidon, Birgit Sikkema-Raddatz, Kristin M. Abbott, Martine T. Meems-Veldhuis, Morris A. Swertz, Morris A. Swertz, K. Joeri van der Velde, K. Joeri van der Velde, Gea Beunders, Dennis K. Bos, Nine V. A. M. Knoers, Wilhelmina S. Kerstjens-Frederikse, Cleo C. van Diemen

Connect to this object online.

An investigation on a cluster epidemic of psittacosis related to a flower and bird market in Shenzhen city by Tianlong XIA, Ying WANG, Yuanfang ZHONG, Zhengduo WANG, Jing FENG, Guoqiang LUO, Shujiang MEI, Min JIANG, Chuanwen DAI

Connect to this object online.

Clinical analysis of germline copy number variation in DMD using a non-conjugate hierarchical Bayesian model by Velina Kozareva, Clayton Stroff, Maxwell Silver, Jonathan F. Freidin, Nigel F. Delaney

Connect to this object online.

Identification of NTRK gene fusions in lung adenocarcinomas in the Chinese population by Ruiying Zhao, Feng Yao, Chan Xiang, Jikai Zhao, Zhanxian Shang, Lianying Guo, Wenjie Ding, Shengji Ma, Anbo Yu, Jinchen Shao, Lei Zhu, Yuchen Han

Connect to this object online.

Establishing molecular pathology curriculum for pathology trainees and continued medical education: a collaborative work from the Molecular Pathology Study Group of the Korean Soci... by Jiwon Koh, Ha Young Park, Jeong Mo Bae, Jun Kang, Uiju Cho, Seung Eun Lee, Haeyoun Kang, Min Eui Hong, Jae Kyung Won, Youn-La Choi, Wan-Seop Kim, Ahwon Lee

Connect to this object online.

Coexistence of mutations of Gilbert's syndrome and Crigler-Najjar syndrome in an infant with unconjugated hyperbilirubinemia-a case report by Ramya Srinivasa Rangan, Shagun Shah, C. T. Deshmukh

Connect to this object online.