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Mutation profiling in South African patients with Cornelia de Lange syndrome phenotype.
Seymour, Heather; Feben, Candice; Nevondwe, Patracia; Kerr, Robyn; Spencer, Careni; Mudau, Maria; Honey, Engela; Lombard, Zane; Krause, Amanda; Carstens, Nadia.
Afiliação
  • Seymour H; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • Feben C; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • Nevondwe P; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • Kerr R; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • Spencer C; Division of Human Genetics, Department of Medicine, University of Cape Town and Groote Schuur Hospital, Cape Town, South Africa.
  • Mudau M; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • Honey E; Department of Biochemistry, Genetics, Microbiology, Faculty of Natural and Agricultural Science, University of Pretoria, Pretoria, South Africa.
  • Lombard Z; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • Krause A; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
  • Carstens N; Division of Human Genetics, National Health Laboratory Service, and School of Pathology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa.
Mol Genet Genomic Med ; 12(1): e2342, 2024 Jan.
Article em En | MEDLINE | ID: mdl-38284454
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ciclo Celular / Síndrome de Cornélia de Lange Tipo de estudo: Prognostic_studies Limite: Humans País/Região como assunto: Africa Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2024 Tipo de documento: Article País de afiliação: África do Sul
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas de Ciclo Celular / Síndrome de Cornélia de Lange Tipo de estudo: Prognostic_studies Limite: Humans País/Região como assunto: Africa Idioma: En Revista: Mol Genet Genomic Med Ano de publicação: 2024 Tipo de documento: Article País de afiliação: África do Sul