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Academic Journal

Multigene Panel Testing Yields High Rates of Clinically Actionable Variants Among Patients With Colorectal Cancer.

  • Authors : Coughlin SE; University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.; Heald B

Subjects: Genetic Testing* ; Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/diagnosis; Adult

  • Source: JCO precision oncology [JCO Precis Oncol] 2022 Nov; Vol. 6, pp. e2200517.Publisher: American Society of Clinical Oncology Country of Publication: United States NLM ID: 101705370 Publication Model: Print Cited Medium: Internet

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Academic Journal

Human Leukocyte Antigen Gene Testing and Carbamazepine-Induced Toxic Epidermal Necrolysis: A Study of Pediatric Practice.

  • Authors : Asgarpour JMS; 12357 Division of Dermatology, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada.; Lam LM

Subjects: Genetic Testing* ; Health Knowledge, Attitudes, Practice*; Anticonvulsants/Anticonvulsants/Anticonvulsants/*adverse effects

  • Source: Journal of cutaneous medicine and surgery [J Cutan Med Surg] 2021 Jan-Feb; Vol. 25 (1), pp. 25-29. Date of Electronic Publication: 2020 Sep 10.Publisher: Sage Publications Country of Publication: United States NLM ID: 9614685 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease.

  • Authors : Li J; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, 100005, China.; Lu C

Subjects: Genetic Testing/Genetic Testing/Genetic Testing/*methods ; High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/*methods ; Marfan Syndrome/Marfan Syndrome/Marfan Syndrome/*genetics

  • Source: Science China. Life sciences [Sci China Life Sci] 2019 Dec; Vol. 62 (12), pp. 1630-1637. Date of Electronic Publication: 2019 May 15.Publisher: Science China Press, co-published with Springer Country of Publication: China NLM ID: 101529880 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Truncated Epithelial Sodium Channel β Subunit Responsible for Liddle Syndrome in a Chinese Family.

  • Authors : Fan P; Department of Cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.; Lu CX

Subjects: Epithelial Sodium Channels/Epithelial Sodium Channels/Epithelial Sodium Channels/*genetics ; Frameshift Mutation/Frameshift Mutation/Frameshift Mutation/*genetics ; Genetic Testing/Genetic Testing/Genetic Testing/*methods

  • Source: Kidney & blood pressure research [Kidney Blood Press Res] 2019; Vol. 44 (5), pp. 942-949. Date of Electronic Publication: 2019 Aug 22.Publisher: Karger Country of Publication: Switzerland NLM ID: 9610505 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1423-0143

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Academic Journal

[Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province].

  • Authors : Pang MJ; Department of Cardiology, First People's Hospital of Yunnan Province, Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, China.; Ding XX

Subjects: Cardiomyopathy, Hypertrophic, Familial*/Cardiomyopathy, Hypertrophic, Familial*/Cardiomyopathy, Hypertrophic, Familial*/diagnosis ; Cardiomyopathy, Hypertrophic, Familial*/Cardiomyopathy, Hypertrophic, Familial*/Cardiomyopathy, Hypertrophic, Familial*/genetics ; Genetic Testing*

  • Source: Zhonghua xin xue guan bing za zhi [Zhonghua Xin Xue Guan Bing Za Zhi] 2018 Nov 24; Vol. 46 (11), pp. 887-891.Publisher: Zhonghua yi xue hui Country of Publication: China NLM ID: 7910682 Publication Model: Print Cited Medium: Print ISSN: 0253-3758 (Print)

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Academic Journal

Prediction of leprosy in the Chinese population based on a weighted genetic risk score.

  • Authors : Wang N; Shandong Provincial Hospital for Skin Diseases, Shandong University, Jinan, Shandong, China.; Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Sciences, Jinan, Shandong, China.

Subjects: Genetic Predisposition to Disease*; Genetic Testing/Genetic Testing/Genetic Testing/*methods ; Leprosy/Leprosy/Leprosy/*genetics

  • Source: PLoS neglected tropical diseases [PLoS Negl Trop Dis] 2018 Sep 19; Vol. 12 (9), pp. e0006789. Date of Electronic Publication: 2018 Sep 19 (Print Publication: 2018).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101291488 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia.

  • Authors : Hamada M; Department of Pediatrics, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, Japan.; Doisaki S

Subjects: Anemia, Dyserythropoietic, Congenital/Anemia, Dyserythropoietic, Congenital/Anemia, Dyserythropoietic, Congenital/*diagnosis ; Anemia, Hemolytic, Congenital/Anemia, Hemolytic, Congenital/Anemia, Hemolytic, Congenital/*diagnosis ; Exome/Exome/Exome/*genetics

  • Source: International journal of hematology [Int J Hematol] 2018 Sep; Vol. 108 (3), pp. 306-311. Date of Electronic Publication: 2018 Jun 23.Publisher: Springer Japan Country of Publication: Japan NLM ID: 9111627 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Spectrum of mutations in benign familial neonatal-infantile epilepsy].

  • Authors : Zeng Q; Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.; Zhang YH

Subjects: Genetic Testing* ; High-Throughput Nucleotide Sequencing* ; Mutation, Missense*

  • Source: Zhonghua er ke za zhi = Chinese journal of pediatrics [Zhonghua Er Ke Za Zhi] 2018 Apr 02; Vol. 56 (4), pp. 267-273.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 0417427 Publication Model: Print Cited Medium: Print ISSN: 0578-1310

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Academic Journal

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.

  • Authors : Zeng Q; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Yang X

Subjects: Genetic Testing* ; Mutation*; Epilepsy, Benign Neonatal/Epilepsy, Benign Neonatal/Epilepsy, Benign Neonatal/*genetics

  • Source: Journal of human genetics [J Hum Genet] 2018 Jan; Vol. 63 (1), pp. 9-18. Date of Electronic Publication: 2017 Nov 13.Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Nagashima-type palmoplantar keratosis in a Chinese Han population.

  • Authors : Zhang J; Department of Dermatology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine, Shanghai 200092, P.R. China.; Zhang G

Subjects: Genetic Testing*; Keratoderma, Palmoplantar/Keratoderma, Palmoplantar/Keratoderma, Palmoplantar/*genetics ; Serpins/Serpins/Serpins/*genetics

  • Source: Molecular medicine reports [Mol Med Rep] 2016 Nov; Vol. 14 (5), pp. 4049-4054. Date of Electronic Publication: 2016 Sep 21.Publisher: D. A. Spandidos Country of Publication: Greece NLM ID: 101475259 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  33 results for ""Asian People""