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Format : Academic Journals Content Provider : MEDLINE Subject : mutation
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Academic Journal

Correlation between Genotype and Phenotype in 69 Chinese Patients with USH2A Mutations: A comparative study of the patients with Usher Syndrome and Nonsyndromic Retinitis Pigmentosa.

  • Authors : Meng X; Department of Ophthalmology, Peking University Third Hospital, Beijing Key Laboratory of Restoration of Damaged Ocular Nerve, Beijing, China.; Liu X

Subjects: Mutation*; DNA/DNA/DNA/*genetics ; Extracellular Matrix Proteins/Extracellular Matrix Proteins/Extracellular Matrix Proteins/*genetics Usher syndrome, type 2A

  • Source: Acta ophthalmologica [Acta Ophthalmol] 2021 Jun; Vol. 99 (4), pp. e447-e460. Date of Electronic Publication: 2020 Oct 29.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2 .

  • Authors : Lockhart CM; Department of Pharmaceutics, University of Washington, Seattle, Washington, USA.; Smith TB

Subjects: Forecasting* ; Mutation*; Corneal Dystrophies, Hereditary/Corneal Dystrophies, Hereditary/Corneal Dystrophies, Hereditary/*genetics Bietti Crystalline Dystrophy

  • Source: The British journal of ophthalmology [Br J Ophthalmol] 2018 Feb; Vol. 102 (2), pp. 187-194. Date of Electronic Publication: 2017 Jul 11.Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 0421041 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China.

  • Authors : Feng X; School of Biomedical Sciences, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong.; Cheung JPY

Subjects: Mutation*; Fetal Proteins/Fetal Proteins/Fetal Proteins/*genetics ; Scoliosis/Scoliosis/Scoliosis/*genetics

  • Source: Journal of orthopaedic research : official publication of the Orthopaedic Research Society [J Orthop Res] 2021 May; Vol. 39 (5), pp. 971-988. Date of Electronic Publication: 2020 Publisher: Wiley Country of Publication: United States NLM ID: 8404726 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1554-527X

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Academic Journal

The association between tumor mutational burden and prognosis is dependent on treatment context.

  • Authors : Valero C; Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.; Immunogenomics and Precision Oncology Platform, Memorial Sloan Kettering Cancer Center, New York, NY, USA.

Subjects: Mutation/Mutation/Mutation/*genetics ; Neoplasms/Neoplasms/Neoplasms/*diagnosis ; Neoplasms/Neoplasms/Neoplasms/*genetics

  • Source: Nature genetics [Nat Genet] 2021 Jan; Vol. 53 (1), pp. 11-15. Date of Electronic Publication: 2021 Jan 04.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

VarSight: prioritizing clinically reported variants with binary classification algorithms.

Subjects: Algorithms* ; Mutation*; Genetic Diseases, Inborn/Genetic Diseases, Inborn/Genetic Diseases, Inborn/*diagnosis

  • Source: BMC bioinformatics [BMC Bioinformatics] 2019 Oct 15; Vol. 20 (1), pp. 496. Date of Electronic Publication: 2019 Oct 15.Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2105

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Academic Journal

Early-onset stroke and vasculopathy associated with mutations in ADA2.

  • Authors : Zhou Q; The authors' affiliations are listed in the Appendix.; Yang D

Subjects: Mutation*; Adenosine Deaminase/Adenosine Deaminase/Adenosine Deaminase/*deficiency ; Adenosine Deaminase/Adenosine Deaminase/Adenosine Deaminase/*genetics

  • Source: The New England journal of medicine [N Engl J Med] 2014 Mar 06; Vol. 370 (10), pp. 911-20. Date of Electronic Publication: 2014 Feb 19.Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Dissecting Oncogenic RAS Signaling in Melanoma Development in Genetically Engineered Zebrafish Models.

  • Authors : Badrock AP; Faculty of Biology, Medicine and Health, School of Biological Sciences, The University of Manchester, Manchester, UK.; Hurlstone A

Subjects: Disease Models, Animal* ; Mutation*; Cell Transformation, Neoplastic/Cell Transformation, Neoplastic/Cell Transformation, Neoplastic/*pathology

  • Source: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2021; Vol. 2262, pp. 411-422.Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029

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Academic Journal

Dysregulated signalling pathways in innate immune cells with cystic fibrosis mutations.

  • Authors : Lara-Reyna S; Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, LS9 7TF, UK. .; Leeds Institute of Medical Research at St James's, University of Leeds, Leeds, LS9 7TF, UK. .

Subjects: Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*genetics ; Cystic Fibrosis/Cystic Fibrosis/Cystic Fibrosis/*immunology ; Immunity, Innate/Immunity, Innate/Immunity, Innate/*genetics

  • Source: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2020 Nov; Vol. 77 (22), pp. 4485-4503. Date of Electronic Publication: 2020 May 04.Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Lithium facilitates removal of misfolded proteins and attenuated faulty interaction between mutant SOD1 and p-CREB (Ser133) through enhanced autophagy in mutant hSOD1 G93A transfected neuronal cell lines.

  • Authors : Yin X; Department of Neurology and Neuroscience Center, The First Hospital of Jilin University, Changchun, 130021, People's Republic of China.; Department of Neurology, The First Affiliated Hospital of Harbin Medical University, Harbin, 150001, People's Republic of China.

Subjects: Mutation*; Cyclic AMP Response Element-Binding Protein/Cyclic AMP Response Element-Binding Protein/Cyclic AMP Response Element-Binding Protein/*metabolism ; Lithium/Lithium/Lithium/*pharmacology

  • Source: Molecular biology reports [Mol Biol Rep] 2019 Dec; Vol. 46 (6), pp. 6299-6309. Date of Electronic Publication: 2019 Sep 16.Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4978

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Academic Journal

In silico analysis of mutations associated with occult hepatitis B virus (HBV) infection in South Africa.

  • Authors : Olagbenro M; Division of Digestive Diseases, University of Cincinnati College of Medicine, ML 0595, Albert Sabin Way, Cincinnati, OH, 45267-0595, USA.; Anderson M

Subjects: Mutation*; Hepatitis B/Hepatitis B/Hepatitis B/*virology ; Hepatitis B virus/Hepatitis B virus/Hepatitis B virus/*genetics

  • Source: Archives of virology [Arch Virol] 2021 Nov; Vol. 166 (11), pp. 3075-3084. Date of Electronic Publication: 2021 Sep 01.Publisher: Springer-Verlag Country of Publication: Austria NLM ID: 7506870 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  55 results for "Yang, Kelly"