「An experience in prenatal diagnosis via QF-PCR of a female child with a 9.9 Mb pure deletion at 18p11.32–11.22」の関連論文
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Two mouse models carrying truncating mutations in Magel2 show distinct phenotypes
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A RUNX-targeted gene switch-off approach modulates the BIRC5/PIF1-p21 pathway and reduces glioblastoma growth in mice
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A proteome signature of umbilical cord serum associated with congenital diaphragmatic hernia
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Analysis of disease model iPSCs derived from patients with a novel Fanconi anemia-like IBMFS ADH5/ALDH2 deficiency
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Pluripotent stem cell model of Shwachman-Diamond syndrome reveals apoptotic predisposition of hemoangiogenic progenitors
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Analysis of aging-related epigenetic modifications in murine male germline cells
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Utility of plasma circulating tumor DNA and tumor DNA profiles in head and neck squamous cell carcinoma
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Identification of a novel uterine leiomyoma GWAS locus in a Japanese population (本文)
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Lionheart LincRNA alleviates cardiac systolic dysfunction under pressure overload
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Myosin heavy chain, a novel allergen for fish allergy in patients with atopic dermatitis
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A model for estimating the brainstem volume in normal healthy individuals and its application to diffuse axonal injury patients
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Occurrence of cholangiocarcinoma, three years after negative seroconversion of anti-TIF1γ antibody, in a dermatomyositis patient
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Clinical Significance of Serum Galectin-9 and Soluble CD155 Levels in Patients with Systemic Sclerosis
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Case report: Late middle-aged features of FAM111A variant, Kenny–Caffey syndrome type 2-suggestive symptoms during a long follow-up
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A novel urinary microRNA biomarker panel for detecting gastric cancer
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Identification of Quantitative Trait Loci (QTL) for Production Traits in Japanese Quail (Coturnix japonica)
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MYC Upregulation Is a Useful Biomarker for Preoperative Neoadjuvant Chemotherapy Combined With Anti-EGFR in Liver Metastasis from Colorectal Cancer
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Optimal Number of Systematic Biopsy Cores Used in Magnetic Resonance Imaging/Transrectal Ultrasound Fusion Targeted Prostate Biopsy
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A simple method to distinguish residual elotuzumab from monoclonal paraprotein in immunofixation assays for multiple myeloma patients
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Squamous Cell Carcinoma at the Site of Cutaneous Lymphoid Hyperplasia
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HER2 G776S mutation promotes oncogenic potential in colorectal cancer cells when accompanied by loss of APC function
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Autism-associated mutation in Hevin/Sparcl1 induces endoplasmic reticulum stress through structural instability
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Serum S100 calcium-binding protein A4 as a novel predictive marker of acute exacerbation of interstitial pneumonia after surgery for lung cancer
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Serum S100 calcium-binding protein A4 as a novel predictive marker of acute exacerbation of interstitial pneumonia after surgery for lung cancer
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Down syndrome-related transient abnormal myelopoiesis is attributed to a specific erythro-megakaryocytic subpopulation with GATA1 mutation
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Studies on multifunctional genome elements functioning in mouse spermatogenesis [an abstract of entire text]
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Validation of measurement scores for evaluating vascular anomaly skin lesions
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A possible link between ages of older fathers and the white matter aberrations found in autism spectrum disorder
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Case report : Vascular graft infection due to Aspergillus species presenting with recurrent vascular occlusion
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Biclonal Diffuse Large B-cell Lymphoma Commonly Characterized by Partial Trisomy 18q Involving MALT1 and BCL2
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Genome-wide Survival Analysis for Macular Neovascularization Development in Central Serous Chorioretinopathy Revealed Shared Genetic Susceptibility with Polypoidal Choroidal Vasculopathy
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Genetic screening for malignant hyperthermia and comparison of clinical symptoms in Japan
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Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia
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Identification and monitoring of mutations in circulating cell-free tumor DNA in hepatocellular carcinoma treated with lenvatinib
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Identification and monitoring of mutations in circulating cell-free tumor DNA in hepatocellular carcinoma treated with lenvatinib
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Tumor Shrinkage by Metyrapone in Cushing Disease Exhibiting Glucocorticoid-Induced Positive Feedback
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A case of Cockayne syndrome with unusually mild clinical manifestations
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p53 expression in repair/reactive renal tubular cells: A potential pitfall leading to a false-positive diagnosis of urine cytology
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Improvement of balance in young adults by a sound component at 100 Hz in music
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Zscan5b deficiency impairs DNA damage response and causes chromosomal aberrations during mitosis (本文)
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The Development of Rapid Growth Potential Analysis Method of Foodborne Pathogens by Real-Time PCR
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Sequencing of selected chromatin remodelling genes reveals increased burden of rare missense variants in ASD patients from the Japanese population
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An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome
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Rapid Identification of Candida Species in Candidemia Directly from Blood Samples Using Imperfect Match Probes
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Pitfalls in establishing mouse model of female infertility by immunization with human centromere protein
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The landscape of genetic aberrations in myxofibrosarcoma
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EYS is a major gene involved in retinitis pigmentosa in Japan: Genetic landscapes revealed by stepwise genetic screening.
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Dermal fibroblast-like cells reprogrammed directly from adipocytes in mouse (本文)
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Real-world application of next-generation sequencing-based test for surgically resectable colorectal cancer in clinical practice (本文)