Search Results - "next generation sequencing"

Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature by Patryk Lipiński, Patryk Lipiński, Maja Klaudel-Dreszler, Elzbieta Ciara, Dorota Jurkiewicz, Rafał Płoski, Joanna Cielecka-Kuszyk, Piotr Socha, Irena Jankowska

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Clinical and Molecular Genetic Features of Autoinflammatory Syndromes in Children by Е. I. Alexeeva, K. V. Savostyanov, Т. V. Sleptsova, А. А. Pushkov, S. I. Valieva, Т. М. Bzarova, K. B. Isaeva, Е. G. Chistyakova, А. М. Chomakhidze, R. V. Denisova, А. G. Nikitin, А. V. Pakhomov

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Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires by Shirly Frizinsky, Shirly Frizinsky, Erez Rechavi, Erez Rechavi, Ortal Barel, Yu Nee Lee, Yu Nee Lee, Amos J. Simon, Amos J. Simon, Atar Lev, Atar Lev, Tali Stauber, Tali Stauber, Tali Stauber, Etai Adam, Raz Somech, Raz Somech, Raz Somech

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Investigation on the genetic-inconsistent paternity cases using the MiSeq FGx system by Anqi Chen, Ruiyang Tao, Chengtao Li, Suhua Zhang

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Identification of pathogens in culture-negative infective endocarditis cases by metagenomic analysis by Jun Cheng, Huan Hu, Yue Kang, Weizhi Chen, Wei Fang, Kaijuan Wang, Qian Zhang, Aisi Fu, Shuilian Zhou, Chen Cheng, Qingqing Cao, Feiyan Wang, Shela Lee, Zhou Zhou

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Potential role of significant GATA3 mutation in male breast cancer responding to endocrine therapy: A case report by Yaoxiong Xia, Xiaoling Liu, Wenhui Li, Yuechun Zhu

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Prenatal diagnosis of Duchenne muscular dystrophy revealed a novel mosaic mutation in Dystrophin gene: a case report by Yan Wang, Yuhan Chen, San Mei Wang, Xin Liu, Ya Nan Gu, Zhichun Feng

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Targeted sequencing reveals complex, phenotype-correlated genotypes in cystic fibrosis by Maxim Ivanov, Alina Matsvay, Olga Glazova, Stanislav Krasovskiy, Mariya Usacheva, Elena Amelina, Aleksandr Chernyak, Mikhail Ivanov, Sergey Musienko, Timofey Prodanov, Sergey Kovalenko, Ancha Baranova, Kamil Khafizov

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Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array by Wenbin Niu, Linlin Wang, Jiawei Xu, Ying Li, Hao Shi, Gang Li, Haixia Jin, Wenyan Song, Fang Wang, Yingpu Sun

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Identification of sequence variants associated with severe microtia-astresia by targeted sequencing by Pu Wang, Yibei Wang, Xinmiao Fan, Yaping Liu, Yue Fan, Tao Liu, Chongjian Chen, Shuyang Zhang, Xiaowei Chen

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Second Tier Molecular Genetic Testing in Newborn Screening for Pompe Disease: Landscape and Challenges by Laurie D. Smith, Matthew N. Bainbridge, Richard B. Parad, Arindam Bhattacharjee

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Genetic detection of congenital heart disease by Sumathi I. Rachamadugu, Kristen A. Miller, Ina H. Lee, Ying S. Zou

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A new family with spastic paraplegia type 51 and novel mutations in AP4E1 by Izabela Winkler, Paweł Miotła, Monika Lejman, Aleksandra Pietrzyk, Magdalena Kacprzak, Marcin Kubiak, Agnieszka Sobczyńska-Tomaszewska, Maciej Skrzypczak, Ilona Jaszczuk

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A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report by Jie Min, Bing Mao, Yong Wang, Xuelian He, Shuyang Gao, Hairong Wang

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A founder mutation in the <it>PEX6</it> gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population by Levesque Sebastien, Morin Charles, Guay Simon-Pierre, Villeneuve Josee, Marquis Pascale, Yik Wing, Jiralerspong Sarn, Bouchard Luigi, Steinberg Steven, Hacia Joseph G, Dewar Ken, Braverman Nancy E

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Case report: Preimplantation genetic testing for X-linked alport syndrome caused by variation in the COL4A5 gene by Nengqing Liu, Xiaojun Wen, Zhanhui Ou, Xiaowu Fang, Jing Du, Xiufeng Lin, Xiufeng Lin

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Diversity of Bacteroidaceae family in gut microbiota of patients with chronic kidney disease and end stage renal disease by Siamak Amini Khiabani, Setareh Haghighat, Hamid Tayebi Khosroshahi, Mohammad Asgharzadeh, Hossein Samadi Kafil

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Placental microRNAs in pregnancies with early onset intrauterine growth restriction and preeclampsia: potential impact on gene expression and pathophysiology by Zain Awamleh, Gregory B. Gloor, Victor K. M. Han

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Molecular Testing of Brain Tumor by Sung-Hye Park, Jaekyung Won, Seong-Ik Kim, Yujin Lee, Chul-Kee Park, Seung-Ki Kim, Seung-Hong Choi

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Assessing peri-implant bacterial community structure: the effect of microbiome sample collection method by Eduardo Anitua, Alia Murias-Freijo, Roberto Tierno, Ricardo Tejero, Mohammad Hamdan Alkhraisat

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