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Academic Journal

Prevalence of hereditary breast and ovarian cancer (HBOC) predisposition gene mutations among 882 HBOC high-risk Chinese individuals.

  • Authors : Shao D; BGI Genomics, BGI-Shenzhen, Shenzhen, China.; BGI-Guangzhou Medical Laboratory, BGI-Shenzhen, Guangzhou, China.

Subjects: Genetic Heterogeneity* ; Mutation*; Asian Continental Ancestry Group/Asian Continental Ancestry Group/Asian Continental Ancestry Group/*genetics

  • Source: Cancer science [Cancer Sci] 2020 Feb; Vol. 111 (2), pp. 647-657. Date of Electronic Publication: 2019 Dec 31.Publisher: Wiley Publishing on behalf of the Japanese Cancer Association Country of Publication: England NLM ID: 101168776 Publication Model: Print-Electronic

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Academic Journal

Gene mutation profile in patients with acquired pure red cell aplasia.

  • Authors : Long Z; Department of Hematology, Peking union medical college hospital, Chinese academy of medical sciences and Peking union medical college, Beijing, 100730, China.; Department of Hematology, The first affiliated hospital of Anhui medical university, Hefei, 230022, China.

Subjects: Mutation*; Proto-Oncogene Proteins/Proto-Oncogene Proteins/Proto-Oncogene Proteins/*genetics ; Red-Cell Aplasia, Pure/Red-Cell Aplasia, Pure/Red-Cell Aplasia, Pure/*genetics

  • Source: Annals of hematology [Ann Hematol] 2020 Aug; Vol. 99 (8), pp. 1749-1754. Date of Electronic Publication: 2020 Jun 27.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 9107334 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

EGFR-mutant lung adenocarcinoma harboring co-mutational tumor suppressor genes predicts poor prognosis.

  • Authors : Zhao Y; Department of Thoracic Surgery, Fudan University Shanghai Cancer Center, 270 Dong-An Road, Shanghai, 200032, China.; Institute of Thoracic Oncology, Fudan University, Shanghai, 200032, China.

Subjects: Biomarkers, Tumor* ; Genes, Tumor Suppressor* ; Mutation*

  • Source: Journal of cancer research and clinical oncology [J Cancer Res Clin Oncol] 2020 Jul; Vol. 146 (7), pp. 1781-1789. Date of Electronic Publication: 2020 May 02.Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 7902060 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report.

  • Authors : Wang H; Anhui Clinical Laboratories, BGI-Anhui, BGI-Shenzhen, Weisan Road, Fuyang, 236000, China.; Wan Y

Subjects: Mutation*; Albinism, Oculocutaneous/Albinism, Oculocutaneous/Albinism, Oculocutaneous/*genetics ; Asian Continental Ancestry Group/Asian Continental Ancestry Group/Asian Continental Ancestry Group/*genetics Oculocutaneous albinism type 2

  • Source: BMC medical genetics [BMC Med Genet] 2019 Jul 25; Vol. 20 (1), pp. 130. Date of Electronic Publication: 2019 Jul 25.Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350

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Academic Journal

Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report.

  • Authors : Tang Y; Department of Endocrinology, The Affiliated Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, P.R. China.; Zheng F

Subjects: Mutation*; Chromogranins/Chromogranins/Chromogranins/*genetics ; GTP-Binding Protein alpha Subunits, Gs/GTP-Binding Protein alpha Subunits, Gs/GTP-Binding Protein alpha Subunits, Gs/*genetics

  • Source: Medicine [Medicine (Baltimore)] 2020 May 22; Vol. 99 (21), pp. e19965.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Rational design and in vivo selection of SHIVs encoding transmitted/founder subtype C HIV-1 envelopes.

  • Authors : O'Brien SP; AIDS and Cancer Virus Program, Frederick National Laboratory for Cancer Research, Frederick, MD, United States of America.; Swanstrom AE

Subjects: Mutation*; HIV Infections/HIV Infections/HIV Infections/*virology ; HIV-1/HIV-1/HIV-1/*genetics

  • Source: PLoS pathogens [PLoS Pathog] 2019 Apr 03; Vol. 15 (4), pp. e1007632. Date of Electronic Publication: 2019 Apr 03 (Print Publication: 2019).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238921 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

A novel mutation KCNQ1p.Thr312del is responsible for long QT syndrome type 1.

  • Authors : Chen XM; Department of Cardiology, School of Medicine, Xinhua Hospital, Shanghai Jiao Tong University, 1665 Kongjiang Road, Shanghai, 200092, China.; Guo K

Subjects: Mutation*; DNA/DNA/DNA/*genetics ; KCNQ1 Potassium Channel/KCNQ1 Potassium Channel/KCNQ1 Potassium Channel/*genetics

  • Source: Heart and vessels [Heart Vessels] 2019 Jan; Vol. 34 (1), pp. 177-188. Date of Electronic Publication: 2018 Jul 14.Publisher: Springer Verlag Country of Publication: Japan NLM ID: 8511258 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Correlation of BRCA2 gene mutation and prognosis as well as variant genes in invasive urothelial carcinoma of the bladder.

  • Authors : Kuang S; Urology Department, Longgang District Central Hospital, Shenzhen, Guangdong 518107, China.; Li H

Subjects: Biomarkers, Tumor* ; Genes, BRCA2* ; Mutation*

  • Source: Cancer biomarkers : section A of Disease markers [Cancer Biomark] 2019; Vol. 25 (2), pp. 203-212.Publisher: IOS Press Country of Publication: Netherlands NLM ID: 101256509 Publication Model: Print Cited Medium: Internet ISSN: 1875-8592

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Academic Journal

Enhancing the Production of D-Mannitol by an Artificial Mutant of Penicillium sp. T2-M10.

  • Authors : Duan R; Key Laboratory of Functional Molecules Analysis and Biotransformation, Yunnan Provincial Department of Education, School of Chemical Science and Technology, Yunnan University, Kunming, 650091, People's Republic of China.; Li H

Subjects: Mutagenesis* ; Mutation* ; Penicillium*/Penicillium*/Penicillium*/genetics

  • Source: Applied biochemistry and biotechnology [Appl Biochem Biotechnol] 2018 Dec; Vol. 186 (4), pp. 990-998. Date of Electronic Publication: 2018 May 26.Publisher: Humana Press Country of Publication: United States NLM ID: 8208561 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders.

  • Authors : Li Y; Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.; Jia X

Subjects: Genotype* ; Mutation* ; Phenotype*

  • Source: American journal of medical genetics. Part A [Am J Med Genet A] 2018 Dec; Vol. 176 (12), pp. 2668-2676. Date of Electronic Publication: 2018 Dec 09.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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