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Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency.
Bakhshalizadeh, Shabnam; Hock, Daniella H; Siddall, Nicole A; Kline, Brianna L; Sreenivasan, Rajini; Bell, Katrina M; Casagranda, Franca; Kamalanathan, Sadishkumar; Sahoo, Jayaprakash; Narayanan, Niya; Naik, Dukhabandhu; Suryadevara, Varun; Compton, Alison G; Amarasekera, Sumudu S C; Kapoor, Ridam; Jaillard, Sylvie; Simpson, Andrea; Robevska, Gorjana; van den Bergen, Jocelyn; Pachernegg, Svenja; Ayers, Katie L; Thorburn, David R; Stroud, David A; Hime, Gary R; Sinclair, Andrew H; Tucker, Elena J.
Afiliación
  • Bakhshalizadeh S; Murdoch Children's Research Institute, Melbourne, Australia.
  • Hock DH; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Siddall NA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, University of Melbourne, Parkville, Australia.
  • Kline BL; Department of Anatomy and Physiology, University of Melbourne, Parkville, Australia.
  • Sreenivasan R; Murdoch Children's Research Institute, Melbourne, Australia.
  • Bell KM; Murdoch Children's Research Institute, Melbourne, Australia.
  • Casagranda F; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Kamalanathan S; Department of Bioinformatics, Murdoch Children's Research Institute, Melbourne, Australia.
  • Sahoo J; Department of Anatomy and Physiology, University of Melbourne, Parkville, Australia.
  • Narayanan N; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.
  • Naik D; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.
  • Suryadevara V; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.
  • Compton AG; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.
  • Amarasekera SSC; Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, 605006, India.
  • Kapoor R; Murdoch Children's Research Institute, Melbourne, Australia.
  • Jaillard S; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Simpson A; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Australia.
  • Robevska G; Murdoch Children's Research Institute, Melbourne, Australia.
  • van den Bergen J; Department of Paediatrics, University of Melbourne, Melbourne, Australia.
  • Pachernegg S; Department of Anatomy and Physiology, University of Melbourne, Parkville, Australia.
  • Ayers KL; Univ Rennes, CHU Rennes, INSERM, EHESP, IRSET (Institut de Recherche en Santé, Environnement et Travail) - UMR_S 1085, 35000, Rennes, France.
  • Thorburn DR; CHU Rennes, Service de Cytogénétique et Biologie Cellulaire, 35033, Rennes, France.
  • Stroud DA; School of Allied Health, College of Science, Health and Engineering, La Trobe University, Bundoora, VIC, Australia.
  • Hime GR; College of Health and Human Services, Charles Darwin University, Darwin, NT, Australia.
  • Sinclair AH; Murdoch Children's Research Institute, Melbourne, Australia.
  • Tucker EJ; Murdoch Children's Research Institute, Melbourne, Australia.
Hum Genet ; 142(7): 879-907, 2023 Jul.
Article en En | MEDLINE | ID: mdl-37148394
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Insuficiencia Ovárica Primaria / Disgenesia Gonadal 46 XX / Pérdida Auditiva Sensorineural Tipo de estudio: Etiology_studies Límite: Animals / Female / Humans Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Australia
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Insuficiencia Ovárica Primaria / Disgenesia Gonadal 46 XX / Pérdida Auditiva Sensorineural Tipo de estudio: Etiology_studies Límite: Animals / Female / Humans Idioma: En Revista: Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Australia