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  1. 81
    Lack of Association of Childhood Partial Epilepsy with Brain Derived Neurotrophic Factor Gene

    Lack of Association of Childhood Partial Epilepsy with Brain Derived Neurotrophic Factor Gene by Aycan Unalp, Elcin Bora, Tufan Cankaya, Ozlem Giray Bozkaya, Derya Ercal, Aysel Ozturk, Ayfer Ulgenalp

    Published 2012-01-01
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  2. 82
    Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran

    Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran by Nafiseh Todarbary, Abouzar Irandegani, Mojtaba Meshkat, Aida Gholoobi, Tayebeh Hamzehloei

    Published 2025-01-01
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  3. 83
    Clustering Pattern and Functional Effect of SNPs in Human miRNA Seed Regions

    Clustering Pattern and Functional Effect of SNPs in Human miRNA Seed Regions by Sha He, Haiyan Ou, Cunyou Zhao, Jian Zhang

    Published 2018-01-01
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  4. 84
    Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever

    Cardiac Tamponade: A Rare Manifestation of Familial Mediterranean Fever by Abdolreza Malek, Tina Zeraati, Ariane Sadr-Nabavi, Niloofar Vakili, Mohammad Reza Abbaszadegan

    Published 2022-01-01
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  5. 85
    Infection and HLA-G Molecules in Nasal Polyposis

    Infection and HLA-G Molecules in Nasal Polyposis by Roberta Rizzo, Nicola Malagutti, Daria Bortolotti, Valentina Gentili, Antonella Rotola, Enrico Fainardi, Teresa Pezzolo, Claudia Aimoni, Stefano Pelucchi, Dario Di Luca, Antonio Pastore

    Published 2014-01-01
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  6. 86
    Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder

    Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder by Marya S. Sabir, Lynne Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl, Marjan Huizing, Frances M. Platt, May Christine V. Malicdan

    Published 2025-01-01
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  7. 87
    Changes in DNA methylation profile in liver tissue during progression of HCV-induced fibrosis to hepatocellular carcinoma

    Changes in DNA methylation profile in liver tissue during progression of HCV-induced fibrosis to hepatocellular carcinoma by I. A. Goncharova, A. A. Zarubin, N. P. Babushkina, I. A. Koroleva, M. S. Nazarenko

    Published 2023-03-01
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  8. 88
    Micro-RNA Expression and Function in Lymphomas

    Micro-RNA Expression and Function in Lymphomas by Sukhinder K. Sandhu, Carlo M. Croce, Ramiro Garzon

    Published 2011-01-01
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  9. 89
    Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma

    Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma by Luigia Cinque, Flavia Pugliese, Celeste Clemente, Stefano Castellana, Maria Pia Leone, Danilo de Martino, Teresa Balsamo, Claudia Battista, Tommaso Biagini, Paolo Graziano, Marco Castori, Alfredo Scillitani, Vito Guarnieri

    Published 2020-01-01
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  10. 90
    Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study

    Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study by Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito

    Published 2025-02-01
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  11. 91
    Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant

    Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of... by Mohammad‐Reza Ghasemi, Zahra Esmaeilizadeh, Sahand Tehrani Fateh, Hossein Sadeghi, Saman Bagheri, Farzad Hashemi‐Gorji, Morteza Sheikhi Nooshabadi, Rasoul Madannezhad, Toktam Sadat Tavabe Ghavami, Reza Mirfakhraie, Mohammad Miryounesi

    Published 2025-01-01
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  12. 92
    An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam

    An Extremely Rare SRD5A2 Gene c.485A>C Mutation in a Compound Heterozygous Newborn with Disorders of Sex Development First Identified in Vietnam by Phan Tuong Quynh Le, Thanh Nha Uyen Le, Thi Thanh Binh Nguyen, Minh Thao Nguyen, Thi Minh Thi Ha

    Published 2022-01-01
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  13. 93
    Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination

    Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination by Yoong-A Suh, Jisun Hwang, Go Hun Seo, Rin Khang, Jang Hoon Lee, Moon Sung Park, Young Bae Sohn

    Published 2025-01-01
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  14. 94
    Evaluating the Carcinogenic and Non-Carcinogenic Health Risks of Heavy Metals Contamination in Drinking Water, Vegetables, and Soil from Gilgit-Baltistan, Pakistan

    Evaluating the Carcinogenic and Non-Carcinogenic Health Risks of Heavy Metals Contamination in Drinking Water, Vegetables, and Soil from Gilgit-Baltistan, Pakistan by Nafeesa Khatoon, Sartaj Ali, Azhar Hussain, Jia Huang, Zengli Yu, Hongyan Liu

    Published 2024-12-01
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  15. 95
    Some Basic Aspects of HLA-G Biology

    Some Basic Aspects of HLA-G Biology by Estibaliz Alegre, Roberta Rizzo, Daria Bortolotti, Sara Fernandez-Landázuri, Enrico Fainardi, Alvaro González

    Published 2014-01-01
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  16. 96
    Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?

    Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association? by Claudio Fozza, Fausto Poddie, Salvatore Contini, Antonio Galleu, Francesca Cottoni, Maurizio Longinotti, Francesco Cucca

    Published 2011-01-01
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  17. 97
    Changes in TNF and IL-6 production after diphtheria toxoid vaccination: drug modulation of the cytokine levels

    Changes in TNF and IL-6 production after diphtheria toxoid vaccination: drug modulation of the cytokine levels by A. L. Pukhalsky, M. S. Bliacher, A. V. Danilina, E. A. Kalashnikova, T. K. Lopatina, I. M. Fedorova

    Published 1996-01-01
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  18. 98
    A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability

    A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability by Xiujuan Yang, Zhongzhi Gan, Xiaoling Guo, Xiang Huang, Juan Liu, Yingchun Zheng, Xiaoqiang Zhou, Jingli Lian, Yue Liu, Tingting Yang, Chao Li, Fenying Chen, Fei He, Xiangmin Xu, Yasi Zhou, Qian Liu, Xingkun Yang, Fu Xiong

    Published 2025-02-01
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  19. 99
    Familial Recurrence of Cerebral Palsy with Multiple Risk Factors

    Familial Recurrence of Cerebral Palsy with Multiple Risk Factors by Lawrence P. Richer, Nancy A. Dower, Norma Leonard, Alicia K. J. Chan, Charlene M. T. Robertson

    Published 2011-01-01
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  20. 100
    Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum

    Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum by Meghan Amson, Esther Lamoureux, Nir Hilzenrat, Marc Tischkowitz

    Published 2012-01-01
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