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Clinical outcomes of screen-positive genome-wide cfDNA cases for trisomy 20: results from the global expanded NIPT Consortium.

Autor: Soster E; Labcorp, 3400 Computer Drive, Westborough, MA, 01581, USA. sostere@labcorp.com., Mossfield T; Genea, Sydney, NSW, Australia., Menezes M; Monash IVF Genetics, Monash IVF Group, Richmond, VIC, Australia., Agenbag G; Next Biosciences, Johannesburg, South Africa., Dubois ML; Laval University, Quebec City, QC, Canada., Gekas J; Department of Medical Genetics, CHU de Quebec Research and Mother and Child Center, University Hospital of Quebec, Laval University, Quebec City, QC, Canada., Hardy T; SA Pathology, Adelaide, SA, 5000, Australia.; Monash IVF Group, Melbourne, Victoria, Australia., Loggenberg K; Next Biosciences, Johannesburg, South Africa.

Publikováno v: Molecular cytogenetics [Mol Cytogenet] 2024 Apr 16; Vol. 17 (1), pp. 9. Date of Electronic Publication: 2024 Apr 16.

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Namaqualand hip dysplasia in South Africa: The molecular determinant elucidated

Autor: Agenbag, G, Julius, S, Ramesar, R, Beighton, P

Publikováno v: South African Medical Journal; Vol. 111 No. 1 (2021); 57-60

Background. Namaqualand hip dysplasia (NHD) is a mild form of spondyloepiphyseal dysplasia in which progressive arthropathy of the hip joint is a major manifestation. The disorder was documented in a multigenerational South African (SA) family with a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=78975075580c::32e60013cd436776d0520a13e8736278
https://www.ajol.info/index.php/samj/article/view/231253

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Craniofacial, dental, and molecular features of Pyle disease in a South African child.

Autor: Chetty M; Department of Craniofacial Biology, Faculty of Dentistry, University of Western Cape, Bellville, South Africa. mchetty@uwc.ac.za., Roomaney I; Department of Craniofacial Biology, Faculty of Dentistry, University of Western Cape, Bellville, South Africa., Oosterwyk C; Department of Pathology, University of Cape Town, Cape Town, South Africa., Manyisa N; Divsion of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Bope CD; Divsion of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; University of Kinshasa, Kinshasa, Democratic Republic of Congo.; Centre for Bioinformatics, Department of Informatics, University of Oslo, Oslo, Norway., Agenbag G; Divsion of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Wonkam A; Divsion of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, USA.

Publikováno v: BDJ open [BDJ Open] 2022 Sep 22; Vol. 8 (1), pp. 28. Date of Electronic Publication: 2022 Sep 22.

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Akademický článek

Multisite assessment of the impact of cell-free DNA-based screening for rare autosomal aneuploidies on pregnancy management and outcomes.

Autor: Mossfield T; Genea, Sydney, NSW, Australia., Soster E; Labcorp Women's Health and Genetics, Laboratory Corporation of America, San Diego, CA, United States., Menezes M; Monash IVF Genetics, Monash IVF Group, Richmond, VIC, Australia., Agenbag G; Next Biosciences, Johannesburg, South Africa., Dubois ML; Faculty of Medicine, Laval University, Quebec City, QC, Canada., Gekas J; CHU de Quebec Research and Mother and Child Center, Department of Medical Genetics, University Hospital of Quebec, Laval University, Quebec City, QC, Canada., Hardy T; Monash IVF Genetics, Monash IVF Group, Richmond, VIC, Australia., Jurkowska M; Genomed SA, Warsaw, Poland., Kleinfinger P; Laboratory CERBA, Saint-Ouen-l'Aumône, France., Loggenberg K; Next Biosciences, Johannesburg, South Africa., Marchili P; Veragen, Buenos Aires, Argentina., Sirica R; AMES, Centro Polidiagnostico Strumentale, Srl, Naples, Italy.

Publikováno v: Frontiers in genetics [Front Genet] 2022 Aug 29; Vol. 13, pp. 975987. Date of Electronic Publication: 2022 Aug 29 (Print Publication: 2022).

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