Showing 21 - 29 results of 29 for search '"BMC Medical Genomics"', query time: 0.03s Refine Results
  1. 21
    Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking

    Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking by Xiao-Yao Li, Bei-Yuan Zhang, Xin-Ran Liang, Yan-Yu Han, Min-Hua Cheng, Mei Wei, Ke Cao, Xian-Cheng Chen, Ming Chen, Jian-Feng Duan, Wen-Kui Yu

    Published 2025-01-01
    “…BMC Medical Genomics…”
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  2. 22
    Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases

    Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases by Xu Yan, Kai Ding, Xin Zhang, Shuai Zhang, Haiying Peng, Ying Zhang

    Published 2025-02-01
    “…BMC Medical Genomics…”
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  3. 23
    A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa

    A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa by Saira Sattar, Thashi Bharadwaj, Umm-e- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M. Leal, Isabelle Schrauwen

    Published 2025-02-01
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  4. 24
    Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening

    Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening by Georgina L Hollitt, Mark M Hassall, Owen M Siggs, Jamie E Craig, Emmanuelle Souzeau

    Published 2025-01-01
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  5. 25
    Identification of novel cytoskeleton protein involved in spermatogenic cells and sertoli cells of non-obstructive azoospermia based on microarray and bioinformatics analysis

    Identification of novel cytoskeleton protein involved in spermatogenic cells and sertoli cells of non-obstructive azoospermia based on microarray and bioinformatics analysis by Danial Hashemi Karoii, Hossein Azizi, Maryam Darvari, Ali Qorbanee, Dawan Jamal Hawezy

    Published 2025-01-01
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  6. 26
    Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report

    Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report by Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila EL Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal

    Published 2025-02-01
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  7. 27
    Circulating microRNA panels for multi-cancer detection and gastric cancer screening: leveraging a network biology approach

    Circulating microRNA panels for multi-cancer detection and gastric cancer screening: leveraging a network biology approach by Leila Kamkar, Samaneh Saberi, Mehdi Totonchi, Kaveh Kavousi

    Published 2025-02-01
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  8. 28
    Discovering the interactome, functions, and clinical relevance of enhancer RNAs in kidney renal clear cell carcinoma

    Discovering the interactome, functions, and clinical relevance of enhancer RNAs in kidney renal clear cell carcinoma by Zhaohui Sun, Haojie Du, Xudong Zheng, Hepeng Zhang, Huajie Hu

    Published 2025-01-01
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  9. 29
    Evaluation of a biomarker for amyotrophic lateral sclerosis derived from a hypomethylated DNA signature of human motor neurons

    Evaluation of a biomarker for amyotrophic lateral sclerosis derived from a hypomethylated DNA signature of human motor neurons by Calum Harvey, Alicja Nowak, Sai Zhang, Tobias Moll, Annika K Weimer, Aina Mogas Barcons, Cleide Dos Santos Souza, Laura Ferraiuolo, Kevin Kenna, Noah Zaitlen, Christa Caggiano, Pamela J Shaw, Michael P Snyder, Jonathan Mill, Eilis Hannon, Johnathan Cooper-Knock

    Published 2025-01-01
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