DOI: 10.1055/s-00046370

Global Medical Genetics

Ausgabe 04 · Volume 10 · Dezember 2023 DOI: 10.1055/s-013-58391

Case Report

  • 271
    Inserra, Maria Cristina; Di Mari, Alessia; Passaniti, Giulia; Cannizzaro, Maria Teresa; La Rosa, Giuliana; Poli, Daniela; Gitto, Placido; Patanè, Laura; Romeo, Placido:

    Imaging in a Rare Case of Neonatal Arterial Tortuosity Syndrome

    Open Access
  • 278
    Alotaibi, Maha; Alqasmi, Amal; Albassam, Faisal; Alkahtani, Turki; Alqahtany, Muath; Alkhaldi, Mohammed:

    The First Reported Case of a Child with Two Different Rare Metabolic Disorders: Very Long-Chain Acyl-CoA Dehydrogenase Deficiency and Encephalomyopathic Mitochondrial DNA Depletion Syndrome 13

    Open Access
  • 335
    Di Nora, A.; Consentino, M.C.; Messina, G.; Timpanaro, T.; Smilari, P.; Pavone, P.:

    Severe Hypernatremia as Presentation of Netherton Syndrome

    Open Access
  • 345
    Di Nora, A.; Pellino, G.; Di Mari, A.; Scarlata, F.; Greco, F.; Pavone, P.:

    Early is Better: Report of a Cowden Syndrome

    Open Access
  • 370
    Pavone, Piero; Pappalardo, Xena Giada; Parano, Claudia; Parano, Enrico; Corsello, Antonio; Ruggieri, Martino; Cacciaguerra, Giovanni; Falsaperla, Raffaele:

    Severe Unilateral Microtia with Aural Atresia, Hair White Patch, Stereotypes in a Young Boy with De novo 16p13.11 Deletion: Reasons for a New Genotype–Phenotype Correlation

    Open Access

    • Editorial

  • 282
    Liu, Jiaying; Zhang, Lei:

    Primary Immune Thrombocytopenia in Pregnancy: Pathology, Diagnosis, and Management

    Open Access

    • Original Articles

  • 285
    Su, Jialin; Tan, Shuhua; Gong, Houwu; Luo, Yongzhong; Cheng, Tianli; Yang, Hua; Wen, Xiaoping; Jiang, Zhou; Li, Yuning; Zhang, Lemeng:

    The Evaluation of Prognostic Value and Immune Characteristics of Ferroptosis-Related Genes in Lung Squamous Cell Carcinoma

    Open Access
    Supplementary Material (PDF)

    • Original Article

  • 301
    Wang, Ban; Pan, Jichun; Liu, Zhonghui:

    Unraveling FOXO3a and USP18 Functions in Idiopathic Pulmonary Fibrosis through Single-Cell RNA Sequencing of Mouse and Human Lungs

    Open Access
    Supplementary Material (PDF)
  • 311
    Kanduc, Darja:

    Molecular Mimicry between Meningococcal B Factor H-Binding Protein and Human Proteins

    Open Access
    Supplementary Material (PDF)
  • 348
    Li, Baohua; Li, Wenjuan; Liang, Yingxue; Zhang, Chen; Kong, Guangyao; Li, Zongfang:

    Spleen-Derived CCL9 Recruits MDSC to Facilitate Tumor Growth in Orthotopic Hepatoma Mice

    Open Access
  • 357
    Qiu, Xin; Jiang, Qing-Qing; Guo, Wei-Wei; Yu, Ning; Yang, Shi-ming:

    Study on Screening Core Biomarkers of Noise and Drug-Induced Hearing Loss Based on Transcriptomics

    Open Access
  • 376
    Oliveira, Polyanna; Correa, Paula; Acosta, Angelina; Freitas, Juliana; Machado-Lopes, Taísa; Bomfim-Palma, Thais; Ribeiro-dos-Santos, Ândrea; Santos, Sidney; Nascimento, Roberto; Nascimento, Ivana; Abe-Sandes, Kiyoko:

    Screening for Mutations in Hereditary Cancer Susceptibility Genes in a Region with High Endogamy in Brazil

    Open Access
    Supplementary Material (PDF)
  • 388
    Xiang, Yaoxian; Wang, Li; Cheng, Yurong; An, Huanjuan; Zhang, Chan; Wang, Jing; Tong, Yingying; Yan, Dong:

    Integrative Analysis of PAIP2B to Identify a Novel Biomarker for Pancreatic Ductal Adenocarcinoma

    Open Access
    Supplementary Material (PDF)

    • Review Article

  • 315
    Michas, Athanasios; Michas, Vasileios; Anagnostou, Evangelos; Galanopoulos, Michail; Tolia, Maria; Tsoukalas, Nikolaos:

    The Clinical Significance of MicroRNAs in Colorectal Cancer Signaling Pathways: A Review

    Open Access
  • 324
    Khan, Erum; Chakrabarty, Soura; Shariff, Sanobar; Bardhan, Mainak:

    Genetics and Genomics of Chronic Pancreatitis with a Focus on Disease Biology and Molecular Pathogenesis

    Open Access
  • 339
    Radak, Mehran; Fallahi, Hossein:

    The Epigenetic Regulation of Quiescent in Stem Cells

    Open Access
  • 382
    Oyebode, Oluwatosin Debola; Tulay, Pınar:

    Mesenchymal Stem Cells Applications in Alzheimer's Disease

    Open Access