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Academic Journal

Detection of the 23-bp nucleotide sequence mutation in retinoid acid receptor related orphan receptor alpha (RORA) gene and its effect on sheep litter size.

  • Authors : Yang Y; College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.; Hu H

Subjects: INDEL Mutation* ; Nuclear Receptor Subfamily 1, Group F, Member 1*; Animals

  • Source: Animal biotechnology [Anim Biotechnol] 2022 Feb; Vol. 33 (1), pp. 70-78. Date of Electronic Publication: 2020 Jul 30.Publisher: Taylor & Francis Country of Publication: England NLM ID: 9011409 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.

  • Authors : Pappalardo J; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia , Nedlands, Australia.; Heath Jeffery RC

Subjects: Mutation*; Calcium-Binding Proteins/Calcium-Binding Proteins/Calcium-Binding Proteins/*genetics ; DNA-Binding Proteins/DNA-Binding Proteins/DNA-Binding Proteins/*genetics

  • Source: Ophthalmic genetics [Ophthalmic Genet] 2021 Feb; Vol. 42 (1), pp. 62-70. Date of Electronic Publication: 2020 Oct 13.Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Evolution of kdr haplotypes in worldwide populations of Aedes aegypti: Independent origins of the F1534C kdr mutation.

Subjects: Genes, Insect* ; Mutation*; Aedes/Aedes/Aedes/*drug effects

  • Source: PLoS neglected tropical diseases [PLoS Negl Trop Dis] 2020 Apr 16; Vol. 14 (4), pp. e0008219. Date of Electronic Publication: 2020 Apr 16 (Print Publication: 2020).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

Impact of the evolution in RAS mutation analysis in Australian patients with metastatic colorectal cancer.

  • Authors : Chong CY; Department of Medical Oncology, Peter MacCallum Cancer Centre, Victoria, Australia.; Jalali A

Subjects: Colonic Neoplasms*/Colonic Neoplasms*/Colonic Neoplasms*/genetics ; Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/pathology ; Rectal Neoplasms*

  • Source: Asia-Pacific journal of clinical oncology [Asia Pac J Clin Oncol] 2022 Oct; Vol. 18 (5), pp. e363-e368. Date of Electronic Publication: 2022 Jan 24.Publisher: Blackwell Pub. Asia Country of Publication: Australia NLM ID: 101241430 Publication Model: Print-Electronic Cited

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Academic Journal

Does a rare mutation in PTPRA contribute to the development of Parkinson's disease in an Australian multi-incident family?

  • Authors : Hill MA; Griffith Institute for Drug Discovery, Griffith University, Nathan, Australia.; Bentley SR

Subjects: Parkinson Disease*/Parkinson Disease*/Parkinson Disease*/genetics; Australia ; Genetic Predisposition to Disease

  • Source: PloS one [PLoS One] 2022 Jul 28; Vol. 17 (7), pp. e0271499. Date of Electronic Publication: 2022 Jul 28 (Print Publication: 2022).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

A novel mutation in the TG gene (G2322S) causing congenital hypothyroidism in a Sudanese family: a case report.

  • Authors : Watanabe Y; Department of Medicine, University of Miami Miller School of Medicine, 1120 NW 14th St., Room 310F, Miami, FL, 33136, USA.; Sharwood E

Subjects: Mutation, Missense*; Congenital Hypothyroidism/Congenital Hypothyroidism/Congenital Hypothyroidism/*genetics ; Thyroglobulin/Thyroglobulin/Thyroglobulin/*genetics

  • Source: BMC medical genetics [BMC Med Genet] 2018 May 02; Vol. 19 (1), pp. 69. Date of Electronic Publication: 2018 May 02.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

Factors influencing cancer genetic somatic mutation test ordering by cancer physician.

  • Authors : Demeshko A; The Dermatology Research Group, University of Queensland Diamantina Institute, The University of Queensland, Translational Research Institute, 37 Kent St, Woolloongabba, QLD, 4102, Australia.; Pennisi DJ

Subjects: Genetic Testing* ; Neoplasms*/Neoplasms*/Neoplasms*/diagnosis ; Neoplasms*/Neoplasms*/Neoplasms*/genetics

  • Source: Journal of translational medicine [J Transl Med] 2020 Nov 12; Vol. 18 (1), pp. 431. Date of Electronic Publication: 2020 Nov 12.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876

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