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  • 1-10 ل  481 نتائج ل ""Sequence analysis""

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Publication : bmc medical genomics
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Academic Journal

CLN3 transcript complexity revealed by long-read RNA sequencing analysis.

  • Authors : Zhang HY; Great Ormond Street Institute of Child Health, University College London, London, WC1E 1EH, UK.; Minnis C

Subjects: Membrane Glycoproteins*/Membrane Glycoproteins*/Membrane Glycoproteins*/genetics ; Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/Neuronal Ceroid-Lipofuscinoses*/genetics ; Molecular Chaperones*/Molecular Chaperones*/Molecular Chaperones*/genetics

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Oct 04; Vol. 17 (1), pp. 244. Date of Electronic Publication: 2024 Oct 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Single cell RNA sequencing provides novel cellular transcriptional profiles and underlying pathogenesis of presbycusis.

  • Authors : Zhang J; Department of Otorhinolaryngology Head and Neck Surgery, Chongqing General Hospital, No.118, Xingguang Avenue, Liangjiang New Area, Chongqing, 401147, China.; Xiang L

Subjects: Presbycusis*/Presbycusis*/Presbycusis*/genetics ; Presbycusis*/Presbycusis*/Presbycusis*/pathology ; Presbycusis*/Presbycusis*/Presbycusis*/metabolism

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Sep 30; Vol. 17 (1), pp. 237. Date of Electronic Publication: 2024 Sep 30.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.

  • Authors : Chen L; Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.; Luo X

Subjects: Dystrophin*/Dystrophin*/Dystrophin*/genetics ; Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/genetics ; Chromosome Inversion*/Chromosome Inversion*/Chromosome Inversion*/genetics

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Sep 09; Vol. 17 (1), pp. 227. Date of Electronic Publication: 2024 Sep 09.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Fabry disease in female monozygotic twins with complex intronic haplotype variants: a case report

Subjects: Enzyme replacement therapy; Fabry disease; Introns

  • Source: BMC Medical Genomics, Vol 17, Iss 1, Pp 1-6 (2024)

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Academic Journal

RNA sequencing of blood in coronary artery disease: involvement of regulatory T cell imbalance.

  • Authors : McCaffrey TA; Division of Genomic Medicine, Department of Medicine, The George Washington Medical Center, The George Washington University, 2300 I Street NW, Ross Hall 443A, Washington, DC, 20037, USA. .; The St. Laurent Institute, Vancouver, WA, USA. .

Subjects: Coronary Artery Disease*/Coronary Artery Disease*/Coronary Artery Disease*/genetics ; Coronary Artery Disease*/Coronary Artery Disease*/Coronary Artery Disease*/blood ; T-Lymphocytes, Regulatory*/T-Lymphocytes, Regulatory*/T-Lymphocytes, Regulatory*/metabolism

  • Source: BMC medical genomics [BMC Med Genomics] 2021 Sep 03; Vol. 14 (1), pp. 216. Date of Electronic Publication: 2021 Sep 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Identification of miRNA expression profile in middle ear cholesteatoma using small RNA-sequencing.

  • Authors : Xie M; Department of Otolaryngology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No.1 Shuaifuyuan, Beijing, 100730, P.R. China.; Tang Q

Subjects: MicroRNAs*/MicroRNAs*/MicroRNAs*/genetics ; Cholesteatoma, Middle Ear*/Cholesteatoma, Middle Ear*/Cholesteatoma, Middle Ear*/genetics ; Cholesteatoma, Middle Ear*/Cholesteatoma, Middle Ear*/Cholesteatoma, Middle Ear*/pathology

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Jun 18; Vol. 17 (1), pp. 162. Date of Electronic Publication: 2024 Jun 18.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Identification of a novel intronic mutation of MAGED2 gene in a Chinese family with antenatal Bartter syndrome.

Subjects: GENE families; GENETIC mutation; GENETIC variation

  • Source: BMC Medical Genomics; 1/18/2024, Vol. 17 Issue 1, p1-6, 6p

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Academic Journal

AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting.

  • Authors : Wünsch C; Institute for Medical Informatics, University of Münster, Albert-Schweitzer-Campus 1, Building A11, Münster, Germany. .; Banck H

Subjects: Genetic Variation* ; High-Throughput Nucleotide Sequencing* ; Sequence Analysis, DNA*

  • Source: BMC medical genomics [BMC Med Genomics] 2020 Feb 04; Vol. 13 (1), pp. 17. Date of Electronic Publication: 2020 Feb 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

The potential role of RNA sequencing in diagnosing unexplained insensitivity to conventional chemotherapy in pediatric patients with B-cell acute lymphoblastic leukemia.

  • Authors : Li X; Department of Pediatrics, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, No.107, West Yan Jiang Road, 510120, Guangzhou, Guangdong, China.; Guangdong Provincial Key Laboratory of Malignant Tumor Epigenetics and Gene Regulation, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, 510120, Guangzhou, China.

Subjects: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/genetics ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/drug therapy ; Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/Precursor B-Cell Lymphoblastic Leukemia-Lymphoma*/diagnosis

  • Source: BMC medical genomics [BMC Med Genomics] 2024 May 29; Vol. 17 (1), pp. 149. Date of Electronic Publication: 2024 May 29.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Identification of sepsis-associated mitochondrial genes through RNA and single-cell sequencing approaches.

  • Authors : Li S; Emergency Medicine Department, The Affiliated Hospital of Southwest Medical University, 25 Taiping Street, Jiangyang District, Luzhou, Sichuan, China.; Li X

Subjects: Sepsis*/Sepsis*/Sepsis*/genetics ; Sepsis*/Sepsis*/Sepsis*/diagnosis ; Sepsis*/Sepsis*/Sepsis*/blood

  • Source: BMC medical genomics [BMC Med Genomics] 2024 May 03; Vol. 17 (1), pp. 120. Date of Electronic Publication: 2024 May 03.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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  • 1-10 ل  481 نتائج ل ""Sequence analysis""