Search Results - "next generation sequencing"

CRISPR/Cas9-AAV Mediated Knock-in at NRL Locus in Human Embryonic Stem Cells by Xianglian Ge, Haitao Xi, Fayu Yang, Xiao Zhi, Yanghua Fu, Ding Chen, Ren-He Xu, Ge Lin, Jia Qu, Junzhao Zhao, Feng Gu

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A novel splicing mutation in the PKD1 gene causes autosomal dominant polycystic kidney disease in a Chinese family: a case report by Peiwen Xu, Sexing Huang, Jie Li, Yang Zou, Ming Gao, Ranran Kang, Junhao Yan, Xuan Gao, Yuan Gao

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Mammary mucinous cystadenocarcinoma with long-term follow-up: molecular information and literature review by Ting Lei, Yong Qiang Shi, Tong Bing Chen

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A novel variant of THRβ and its 4-year clinical course in a Korean boy with resistance to thyroid hormone by Sejin Kim, Soyun Park, Jungeun Moon, Heungsik Kim, Seokjin Kang

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Comprehensive evaluation of the child with global developmental delays or intellectual disability by Abdullah Nasser Aldosari, T. Saeed Aldosari

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Genetic investigation of 211 Chinese families expands the mutational and phenotypical spectra of hereditary retinopathy genes through targeted sequencing technology by Zhouxian Bai, Yanchuan Xie, Lina Liu, Jingzhi Shao, Yuying Liu, Xiangdong Kong

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DNA metabarcoding of faecal pellets reveals high consumption of yew (Taxus spp.) by caribou (Rangifer tarandus) in a lichen-poor environment by Greniqueca Mitchell, Paul J. Wilson, Micheline Manseau, Bridget Redquest, Brent R. Patterson, Linda Y. Rutledge

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Novel compound heterozygous TARS2 variants in a Chinese family with mitochondrial encephalomyopathy: a case report by Xiaojing Li, Bingwei Peng, Chi Hou, Jinliang Li, Yiru Zeng, Wenxiao Wu, Yinting Liao, Yang Tian, Wen-Xiong Chen

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The role of genetic mutations in intrahepatic cholestasis of pregnancy by Gültekin Adanaş Aydın, Gülten Özgen, Orhan Görükmez

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A Rare Case of Advanced Urethral Diverticular Adenocarcinoma and a Review of Treatment Modalities by Fatai Oluyadi MD, Preethi Ramachandran MD, Vladmir Gotlieb MD

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A Chinese family affected by lynch syndrome caused by MLH1 mutation by Shuqin Jia, Meng Zhang, Yu Sun, Hai Yan, Fangping Zhao, Ziyu Li, Jiafu Ji

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Multifactoriality of Parkinson's Disease as Explored Through Human Neural Stem Cells and Their Transplantation in Middle-Aged Parkinsonian Mice by Anna Nelke, Anna Nelke, Silvia García-López, Silvia García-López, Alberto Martínez-Serrano, Alberto Martínez-Serrano, Marta P. Pereira, Marta P. Pereira

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Clinical and genetic features of primary ciliary dyskinesia in a cohort of consecutive clinically suspect children in western China by Ying Li, Wenlong Fu, Gang Geng, Jihong Dai, Zhou Fu, Daiyin Tian

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Pattern-Recognition Receptors and Cervical Microbiome in Patients with Early Miscarriages by Mariya V. Gryaznova, Olesya N. Kozarenko, Victoria M. Ivannikova, Yuliya D. Smirnova, Inna Y. Burakova, Oxana B. Altukhova, Natalia I. Samborskaya, Mikhail Y. Syromyatnikov, Alexander Y. Maslov, Olga P. Lebedeva

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A case report of the enterovirus-D68 associated severe acute respiratory illness in a pediatric case from India by Sumit D. Bhardwaj, Varsha A. Potdar, Pragya D. Yadav, Manohar L. Chaudhary, Mandeep S. Chadha, Devendra Mourya

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p53 immunostaining pattern is a useful surrogate marker for TP53 gene mutations by You-Na Sung, Deokhoon Kim, Jihun Kim

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A Genomic Approach to Resolving Relapse versus Reinfection among Four Cases of Buruli Ulcer. by Miriam Eddyani, Koen Vandelannoote, Conor J Meehan, Sabin Bhuju, Jessica L Porter, Julia Aguiar, Torsten Seemann, Michael Jarek, Mahavir Singh, Françoise Portaels, Timothy P Stinear, Bouke C de Jong

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Individuality and temporal stability of the human gut microbiome by Shinichi Sunagawa, Siegfried Schloissnig, Manimozhiyan Arumugam, Kristoffer Forslund, Makedonka Mitreva, Julien Tap, Ana Zhu, Alison Waller, Daniel R. Mende, Jens Roat Kultima, John Martin, Karthik Kota, Shamil R. Sunyaev, Athanasios Typas, George M. Weinstock, Peer Bork

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Loeys-Dietz Syndrome with Type 1 Diabetes Mellitus by Daro Jeong, Jung Hyun Lee, Seom Gim Kong

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One healthy live birth after preimplantation genetic testing of a cryptic balanced translocation (9;13) in a family with cerebral palsy and glaucoma: a case report by Xiliang Wang, Changsheng Wu, Dongmei Hao, Jinyan Zhang, Chang Tan, De-hua Cheng, Jia Fei, Yuexin Yu

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