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Subject : medicine

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Academic Journal

Rubinstein-Taybi Syndrome: Clinical and Genetic Analyses of One Case and Literature Review

Authors : Xiaomiao WAN, Ling LI, Changwei LIU, Chaohui SHEN, Liwen WU, Suxian ZHOU

Subjects: rubinstein-taybi syndrome; genetic techniques; dna mutational analysis

Source: Zhongguo quanke yixue, Vol 25, Iss 24, Pp 3070-3074 (2022)

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Academic Journal

Cardiac Disease Associated Genetic Variants in Yi Nationality in Regions with High Incidence of Yunnan Sudden Unexplained Death

Authors : LIU Kai, WANG Yue-bing, DU Jin-liang,et al

Subjects: forensic pathology; forensic genetics; dna mutational analysis

Source: Fayixue Zazhi, Vol 36, Iss 4, Pp 497-501 (2020)

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Academic Journal

Forensic Application of SiFaSTRTM 23plex DNA ID System in Han Population of Eastern China

Authors : BAO Yun, SHENG Xiang, ZHANG Jia-shuo，et al

Subjects: forensic genetics; polymorphism, genetic; dna mutational analysis

Source: Fayixue Zazhi, Vol 34, Iss 2, Pp 120-125 (2018)

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Academic Journal

Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease

Authors : Hua-Xu Liu; Chuan-Qiang Pu; Qiang Shi

Subjects: Alpha-glucosidase; DNA Mutational Analysis; Genetic Heterogeneity

Source: Chinese Medical Journal, Vol 131, Iss 4, Pp 448-453 (2018)

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Academic Journal

Mutation Analysis of 19 STR Loci in 20 723 Cases of Paternity Testing

Authors : BI JIE, CHANG JING-JING, LI MIAO-XIA, ET AL.

Subjects: forensic genetics; parent-child relations; short tandem repeat

Source: Fayixue Zazhi, Vol 33, Iss 3, Pp 263-266 (2017)

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In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease

Authors : Avi, Fellner; Yael, Goldberg; Dorit, Lev

Subjects: Models, Molecular; Protein Conformation; Science

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)Scientific Reports

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Accuracy of mutational signature software on correlated signatures

Authors : Yang, Wu; Ellora Hui Zhen, Chua; Alvin Wei Tian, Ng

Subjects: Multidisciplinary; Science; DNA Mutational Analysis

Source: Scientific Reports, Vol 12, Iss 1, Pp 1-12 (2022)Scientific Reports

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Novel gain‐of‐function mutation of TRPC6 Q134P contributes to late onset focal segmental glomerulosclerosis in a Chinese pedigree

Authors : Ruixiao Zhang; Leping Shao; Haiyan Zhang

Subjects: Adult; Male; China

Source: Nephrology. 26:1018-1025

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Contribution of the IdyllaTM System to Improving the Therapeutic Care of Patients with NSCLC through Early Screening of EGFR Mutations

Authors : Emmanuel Bergot; Simon Deshayes; Frédéric Bibeau ...

Subjects: Oncology; medicine.medical_specialty; Lung Neoplasms

Source: Current Oncology, Vol 28, Iss 376, Pp 4432-4445 (2021)Current OncologyCurrent Oncology, 2021, 28 (6), pp.4432-4445. ⟨10.3390/curroncol28060376⟩Volume 28Issue 6Pages

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Structural exploration with AlphaFold2-generated STAT3α structure reveals selective elements in STAT3α-GRIM-19 interactions involved in negative regulation

Authors : Seema Mishra; Santosh Kumar; Praveena Koyyada

Subjects: STAT3 Transcription Factor; Protein Folding; animal structures

Source: Scientific Reports, Vol 11, Iss 1, Pp 1-17 (2021)Scientific Reports

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