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Cost-effective genotyping for classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) in resource-poor settings: multiplex ligation probe amplification (MLPA) with/without sequential next-generation sequencing (NGS).
Monteiro, Ana; Pavithran, Praveen V; Puthukulangara, Manuprasad; Bhavani, Nisha; Nampoothiri, Sheela; Yesodharan, Dhanya; Kumaran, Reshma.
Afiliação
  • Monteiro A; Department of Endocrinology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India.
  • Pavithran PV; Department of Endocrinology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India. pravvp@gmail.com.
  • Puthukulangara M; Paediatric Clinical Genetics Laboratory, Amrita Institute of Medical Sciences, Kochi, Kerala, India.
  • Bhavani N; Department of Endocrinology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India.
  • Nampoothiri S; Department of Paediatric Genetics, Amrita Institute of Medical Sciences, Kochi, Kerala, India.
  • Yesodharan D; Department of Paediatric Genetics, Amrita Institute of Medical Sciences, Kochi, Kerala, India.
  • Kumaran R; Paediatric Clinical Genetics Laboratory, Amrita Institute of Medical Sciences, Kochi, Kerala, India.
Hormones (Athens) ; 22(2): 311-320, 2023 Jun.
Article em En | MEDLINE | ID: mdl-36952211
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hiperplasia Suprarrenal Congênita Tipo de estudo: Diagnostic_studies / Health_economic_evaluation / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Hiperplasia Suprarrenal Congênita Tipo de estudo: Diagnostic_studies / Health_economic_evaluation / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article