Showing 81 - 100 results of 105 for search '"Global Medical Genetics"', query time: 0.15s Refine Results
  1. 81
    Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy

    Novel Variants of CEP152 in a Case of Compound-Heterozygous Inheritance of Epilepsy by Weiran Li, Xiaowei Lu, Jianbo Shu, Yingzi Cai, Dong Li, Chunquan Cai

    Published 2024-01-01
    “…Global Medical Genetics…”
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  2. 82
    The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method

    The Frequency of SMN1, SMN2 Copy Numbers in 246 Turkish Cases Analyzed with MLPA Method by Sinem Yalcintepe, Yasemin Karal, Selma Demir, Emine Ikbal Atli, Engin Atli, Damla Eker, Cisem Mail, Drenushe Zhuri, Hazal Sezginer Guler, Hakan Gurkan

    Published 2023-06-01
    “…Global Medical Genetics…”
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  3. 83
    Psoriasis: An Immunogenetic Perspective

    Psoriasis: An Immunogenetic Perspective by Ayca Kocaaga, Mustafa Kocaaga

    Published 2022-06-01
    “…Global Medical Genetics…”
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    Article
  4. 84
    NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly

    NGS-Panel Diagnosis Developed for the Differential Diagnosis of Idiopathic Toe Walking and Its Application for the Investigation of Possible Genetic Causes for the Gait Anomaly by David Pomarino, Anna Emelina, Jens Heidrich, Kevin Rostásy, Svenja Schirmer, Jan O. Schönfeldt, Anneke Thren, Ferdinand Wagner, Johanna Ronja Thren, Nina Berger

    Published 2023-06-01
    “…Global Medical Genetics…”
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  5. 85
    Lessons from Real Life Experience: Importance of In-House Sequencing and Smart Ratio-Based Real-Time PCR Outperform Multiplex Ligation-Dependent Probe Amplification in Prenatal Diagnosis for Spinal Muscular Atrophy: Bench to Bedside Diagnosis

    Lessons from Real Life Experience: Importance of In-House Sequencing and Smart Ratio-Based Real-Time PCR Outperform Multiplex Ligation-Dependent Probe Amplification in Prenatal Dia... by Gulten Tuncel, Burcin Sanlıdag, Eray Dirik, Tugba Baris, Mahmut Cerkez Ergoren, Sehime Gulsun Temel

    Published 2023-09-01
    “…Global Medical Genetics…”
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  6. 86
    Role of Molecular Targeted Therapeutic Drugs in Treatment of Glioblastoma: A Review Article

    Role of Molecular Targeted Therapeutic Drugs in Treatment of Glioblastoma: A Review Article by Himanshu Singh

    Published 2023-06-01
    “…Global Medical Genetics…”
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  7. 87
    Genetic Analysis of the Single-Nucleotide Polymorphisms rs880810, rs545793, rs80094639, and rs13251901 in Nonsyndromic Oral Clefts: A Case–Parent Trio Study

    Genetic Analysis of the Single-Nucleotide Polymorphisms rs880810, rs545793, rs80094639, and rs13251901 in Nonsyndromic Oral Clefts: A Case–Parent Trio Study by Mahamad Irfanulla Khan, Prashanth CS, N. Srinath, Praveen K. Neela, Mohammed K. Mohiuddin

    Published 2023-01-01
    “…Global Medical Genetics…”
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  8. 88
    Identification of Novel Risk Variants of Inflammatory Factors Related to Myeloproliferative Neoplasm: A Bidirectional Mendelian Randomization Study

    Identification of Novel Risk Variants of Inflammatory Factors Related to Myeloproliferative Neoplasm: A Bidirectional Mendelian Randomization Study by Yang Li, Ting Sun, Jia Chen, Lei Zhang

    Published 2024-01-01
    “…Global Medical Genetics…”
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  9. 89
    A Pair of Compound Heterozygous <i>IARS2</i> Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient

    A Pair of Compound Heterozygous <i>IARS2</i> Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient by Feiyu Zhou, Gui Yi, Xiangyu Liu, Wenchao Sheng, Jianbo Shu, Dong Li, Chunquan Cai

    Published 2024-01-01
    “…Global Medical Genetics…”
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  10. 90
    Exposure to SARS-CoV-2 and Infantile Diseases

    Exposure to SARS-CoV-2 and Infantile Diseases by Darja Kanduc

    Published 2023-06-01
    “…Global Medical Genetics…”
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  11. 91
    Laboratory-developed Droplet Digital PCR Assay for Quantification of the JAK2<sup>V617F</sup> Mutation

    Laboratory-developed Droplet Digital PCR Assay for Quantification of the JAK2<sup>V617F</sup> Mutation by Yupeng Liu, Cong Han, Jie Li, Shicai Xu, Zhijian Xiao, Zhiyun Guo, Shuquan Rao, Yao Yao

    Published 2024-06-01
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  12. 92
    The Relationship between <i>VDR</i> Gene Polymorphisms <i>Bsm1</i> and <i>Apa1</i> with Breast Cancer Risk

    The Relationship between <i>VDR</i> Gene Polymorphisms <i>Bsm1</i> and <i>Apa1</i> with Breast Cancer Risk by Hengameh Mozaffarizadeh, Fariborz Mokarian, Mansoor Salehi, Seyyed Mohammad Reza Hakimian, Elham Moazam, Amirmohammad Amoozadehsamakoosh, Majid Hosseinzadeh, Mahdieh Behnam, Mohaddeseh Behjati, Alma Naseri, Marzieh Lotfi, Fatemeh Tohidi

    Published 2024-01-01
    “…Global Medical Genetics…”
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  13. 93
    Prevalence and Associations of Co-occurrence of <i>NFE2L2</i> Mutations and Chromosome 3q26 Amplification in Lung Cancer

    Prevalence and Associations of Co-occurrence of <i>NFE2L2</i> Mutations and Chromosome 3q26 Amplification in Lung Cancer by Jinfeng Liu, Sijie Liu, Dan Li, Hongbin Li, Fan Zhang

    Published 2024-06-01
    “…Global Medical Genetics…”
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  14. 94
    Molecular Detection of blaOXA-type Carbapenemase Genes and Antimicrobial Resistance Patterns among Clinical Isolates of Acinetobacter baumannii

    Molecular Detection of blaOXA-type Carbapenemase Genes and Antimicrobial Resistance Patterns among Clinical Isolates of Acinetobacter baumannii by Maghsoud Kafshnouchi, Marzieh Safari, Amir Khodavirdipour, Abbas Bahador, Seyed Hamid Hashemi, Mohammad Sina Alikhani, Massoud Saidijam, Mohammad Yousef Alikhani

    Published 2022-06-01
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  15. 95
    Pitfalls of PCR-RFLP in Detecting SARS-CoV-2 D614G Mutation

    Pitfalls of PCR-RFLP in Detecting SARS-CoV-2 D614G Mutation by Kok-Siong Poon, Karen Mei-Ling Tan

    Published 2022-06-01
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  16. 96
    Shared Genes and Molecular Mechanisms between Nonalcoholic Fatty Liver Disease and Hepatocellular Carcinoma Established by WGCNA Analysis

    Shared Genes and Molecular Mechanisms between Nonalcoholic Fatty Liver Disease and Hepatocellular Carcinoma Established by WGCNA Analysis by He He, Zhang Zhang, Chen Chen, Xu Xu, Chen Chen, Xu Xu

    Published 2023-09-01
    “…Global Medical Genetics…”
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  17. 97
    A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report

    A Young Boy with 21q21.1 Microdeletion Showing Speech Delay, Spastic Diplegia, and MRI Abnormalities: Original Case Report by Piero Pavone, Raffaele Falsaperla, Martino Ruggieri, Simona Domenica Marino, Enrico Parano, Xena Giada Pappalardo

    Published 2023-09-01
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  18. 98
    Association of Assisted Reproductive Technology Treatments with Imprinting Disorders

    Association of Assisted Reproductive Technology Treatments with Imprinting Disorders by T. Kopca, Pinar Tulay

    Published 2021-02-01
    “…Global Medical Genetics…”
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  19. 99
    Primary Immune Thrombocytopenia in Pregnancy: Pathology, Diagnosis, and Management

    Primary Immune Thrombocytopenia in Pregnancy: Pathology, Diagnosis, and Management by Jiaying Liu, Lei Zhang

    Published 2023-12-01
    “…Global Medical Genetics…”
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  20. 100
    Discovery of FOCAD: An Important Gene in Liver Cirrhosis

    Discovery of FOCAD: An Important Gene in Liver Cirrhosis by Jinjin Shao

    Published 2022-12-01
    “…Global Medical Genetics…”
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