Search Results - "next generation sequencing"

A Unique Case of Bilateral Thalamic High-Grade Glioma in a Pediatric Patient with LI-Fraumeni Syndrome: Case Presentation and Review of the Literature by Raffaella Messina, Gerardo Cazzato, Teresa Perillo, Vita Stagno, Valeria Blè, Mariachiara Resta, Francesco De Leonardis, Nicola Santoro, Francesco Signorelli, Giuseppe Ingravallo

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SETD5 gene mutation as the cause of short stature by Aleksandra Maria Roztoczyńska, Dorota Roztoczyńska, Antoni Pyrkosz, Artur Mazur

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Hereditary Systemic Autoinflammatory Diseases: Therapeutic Stratification by Ovgu Kul Cinar, Ovgu Kul Cinar, Amber Putland, Karen Wynne, Despina Eleftheriou, Despina Eleftheriou, Despina Eleftheriou, Paul A. Brogan, Paul A. Brogan

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Genetic, Clinical, and Pathologic Backgrounds of Children With X-Linked Alport Syndrome in China: A Monocenter Study by Ding Juan-Juan MS, Wang Jia MS, Liu Li-Li MS, Wang Si MS, Wang Xiao-Wen MD, PhD, Luan Jiang-Wei BS, Ke Li-Qin MS, Sun Jie BS, Zhao Pei-Wei MD, PhD

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Case report: A novel mutation in TRPS1 identified in a Chinese family with tricho-rhino-phalangeal syndrome I: A therapeutic challenge by Qi Huang, Cheng Jiang, Jiazhong Sun, Junli Xue, Victor Wei Zhang

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A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn-Sproul-Jackson syndrome by Ga Hye Kim, Jaewon Kim, Jaewoong Lee, Dae-Hyun Jang

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Next-generation probiotics: Health-promoting bacteria of the human gut by Golić Nataša, Đokić Jelena, Tolinački Maja, Živković Milica

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Genome-Wide Sequencing Modalities for Children with Unexplained Global Developmental Delay and Intellectual Disabilities-A Narrative Review by Mary Hsin-Ju Ko, Hui-Ju Chen

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Sequencing of Cutaneous Squamous Cell Carcinoma Primary Tumors and Patient-Matched Metastases Reveals ALK as a Potential Driver in Metastases and Low Mutational Concordance in Immu... by Marissa B. Lobl, Dillon D. Clarey, Shauna Higgins, Adam Sutton, Ashley Wysong

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CRYPTOBACTERIUM CURTUM: A NOVEL BACTERIA WITH A POSSIBLE SIGNIFICANT INVOLVEMENT IN PERIODONTAL DISEASE. A REVIEW. by Oana Bejan, Giorgio Nichitean, Oana Butnaru, Monica Tatarciuc, Maria-Alexandra Martu, Gabriel Rotundu, Iris-Malina Maftei, Costin Damian, Ramona Ursu, Ionuț Luchian

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Temporal stability of tongue microbiota in older patients - A pilot study by Fa-Tzu Tsai, Cheng-Chieh Yang, Yu-Cheng Lin, Ming-Lun Hsu, Guang Hong, Mu-Chen Yang, Ding-Han Wang, Lin-Jack Huang, Chiu-Tzu Lin, Wun-Eng Hsu, Hsi-Feng Tu

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Clinical manifestations in a Chinese girl with heterozygous de novo NAA10 variant c. 247C > T, p. (Arg83Cys): a case report by Kaiyan Wei, Chaochun Zou

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Comparison of Proangiogenic Effects of Adipose-Derived Stem Cells and Foreskin Fibroblast Exosomes on Artificial Dermis Prefabricated Flaps by Jiachao Xiong, Zhixiao Liu, Minliang Wu, Mengyan Sun, Yu Xia, Yuchong Wang

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Autism spectrum disorder early in development associated with CHD8 mutations among two Chinese children by Jiangping Wang, Jinling Liu, Yi Gao, Kaixuan Wang, Kewen Jiang

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KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders by Liuyan Zhu, Liuyan Zhu, Lina Lv, Lina Lv, Dingwen Wu, Dingwen Wu, Jie Shao, Jie Shao

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Future Perspectives of Newborn Screening for Inborn Errors of Immunity by Maartje Blom, Robbert G. M. Bredius, Mirjam van der Burg

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Respiratory tract infection of fatal severe human bocavirus 1 in a 13-month-old child: A case report and literature review by Jing Liao, Zhongying Yang, Yu He, Jianhua Wei, Luo Ren, Enmei Liu, Na Zang

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The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report by Chulaluck Kuptanon, Chalurmpon Srichomthong, Apiruk Sangsin, Dool Kovitvanitcha, Kanya Suphapeetiporn, Vorasuk Shotelersuk

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Copy Number Variants in Obesity-Related Syndromes: Review and Perspectives on Novel Molecular Approaches by Carla Sustek D'Angelo, Celia Priszkulnik Koiffmann

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Everolimus plus anastrozole for female adnexal tumor of probable Wolffian origin (FATWO) with STK11 mutation by Maria de Pilar Estevez-Diz, Renata Colombo Bonadio, Filomena Marino Carvalho, Jesus Paula Carvalho

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