Value of medical genetic consultation at digestive organs diseases by T. V. Filippova

Subjects: “…medical genetic consultation…”
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On the 40th anniversary of the Research Institute of Medical Genetics, Tomsk National Research Medical Center by V. A. Stepanov, I. N. Lebedev

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College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance by Kristina Cusmano-Ozog, Dietrich Matern, Thomas Long, Nicola Longo, Sarah Young

“…Since 1993, the College of American Pathologists with the American College of Medical Genetics and Genomics has offered proficiency testing (PT) for urine GAG analysis accessible to laboratories worldwide. …”
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Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15 by Jianyan Pan, Hua Teng, Fang Liu, Siyi Chen, Yaning Liu, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu

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Corrigendum to “miR-183-5p Is a Potential Molecular Marker of Systemic Lupus Erythematosus” by Shaolan Zhou, Jing Zhang, Pengfei Luan, Zhanbing Ma, Jie Dang, Hong Zhu, Qian Ma, Yanfeng Wang, Zhenghao Huo

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Improvement of nutrient absorption may enhance systemic oxidative stress in cystic fibrosis patients by Galina V. Shmarina, Alexander L. Pukhalsky, Svetlana N. Kokarovtseva, Daria A. Pukhalskaya, Elena A. Kalashnikova, Nikolaï I. Kapranov, Natalia J. Kashirskaja

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Assessment of Combined Karyotype Analysis and Chromosome Microarray Analysis in Prenatal Diagnosis: A Cohort Study of 3710 Pregnancies by Jin Wang, Danni Wang, Yan Yin, Yi Deng, Mengling Ye, Ping Wei, Zhuo Zhang, Chun Chen, Shengfang Qin, Xueyan Wang

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Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1... by A. A. Kashevarova, M. E. Lopatkina, O. Yu. Vasilyeva, D. A. Fedotov, A. D. Lobanov, E. A. Fonova, I. Z. Zhalsanova, A. A. Zarubin, O. A. Salyukova, E. O. Belyaeva, V. V. Petrova, E. G. Ravzhaeva, A. A. Agafonova, A. D. Cheremnykh, N. B. Torkhova, S. L. Vovk, I. N. Lebedev

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A recurrent synonymous L1CAM variant in a fetus with hydrocephalus by Ivan Šubrt, Tomáš Zavoral, Lukáš Strych, Monika Černá, Markéta Hejnalová, Pavla Komrsková, Jitka Tejcová

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Anti-inflammatory and immunomodulating effects of clarithromycin in patients with cystic fibrosis lung disease by Alexander L. Pukhalsky, Galina V. Shmarina, Nikolai I. Kapranov, Svetlana N. Kokarovtseva, Daria Pukhalskaya, Natalia J. Kashirskaja

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Tumor necrosis factor-α/interleukin-10 balance in normal and cystic fibrosis children by Galina V. Shmarina, Alexander L. Pukhalsky, Svetlana N. Kokarovtseva, Daria A. Pukhalskaya, Lidia A. Shabalova, Nikolai I. Kapranov, Natalia J. Kashirskaja

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Involvement and Therapeutic Potential of the GABAergic System in the Fragile X Syndrome by Inge Heulens, Charlotte D'Hulst, Sien Braat, Liesbeth Rooms, R. Frank Kooy

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Immunomodulating activities of a natural α1 -acid glycoprotein and its carbohydrate chains attached to the Protein-Free Polymer by A. L. Pukhalsky, S. D. Shyian, E. A. Kalashnikova, G. V. Shmarina, D. A. Pukhalskaya, N. V. Bovin

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Association between alkali and alkaline earth elements in chorionic villus and risk for spontaneous abortion by Meng Lin, Yutong Wang, Xiaoye Wang, Lailai Yan, Linlin Wang, Chan Tian

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Correction To: Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema by Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi

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Case report: Deciphering the clinical significance of a novel partial BRCA1 exon 10 duplication in a patient with triple-negative breast cancer by Alice Faversani, Debora Manuelli, Davide Barteselli, Giulia Melloni, Carlo Santaniello, Luigi Corsaro, Luigi Corsaro, Davide Sacco, Davide Sacco, Davide Clerici, Laura Gargiulo, Fulvio Ferrara, Lucy Costantino

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Characterization of an IncR Plasmid with Two Copies of ISCR-Linked qnrB6 from ST968 Klebsiella pneumoniae by Changrui Qian, Xinyi Zhu, Junwan Lu, Kai Shen, Qianqian Chen, Wangxiao Zhou, Hongmao Liu, Wei Lu, Danying Zhou, Zhewei Sun, Xi Lin, Kewei Li, Qiyu Bao, Teng Xu, Shunfei Lu

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Runs of homozygosity in spontaneous abortions from families with recurrent pregnancy loss by N. A. Skryabin, S. A. Vasilyev, T. V. Nikitina, D. I. Zhigalina, R. R. Savchenko, N. P. Babushkina, M. E. Lopatkina, A. A. Kashevarova, I. N. Lebedev

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