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Whole-exome sequencing and variant spectrum in children with suspected inherited renal tubular disorder: the East India Tubulopathy Gene Study.
Sinha, Rajiv; Pradhan, Subal; Banerjee, Sushmita; Jahan, Afsana; Akhtar, Shakil; Pahari, Amitava; Raut, Sumantra; Parakh, Prince; Basu, Surupa; Srivastava, Priyanka; Nayak, Snehamayee; Thenral, S G; Ramprasad, V; Ashton, Emma; Bockenhauer, Detlef; Mandal, Kausik.
Afiliación
  • Sinha R; Institute of Child Health, Kolkata, India.
  • Pradhan S; Apollo Hospital, Kolkata, India.
  • Banerjee S; SVPPGIP & SCB Medical College, Cuttack, India.
  • Jahan A; Institute of Child Health, Kolkata, India.
  • Akhtar S; Calcutta Medical and Research Institute, Kolkata, India.
  • Pahari A; Renowell Clinic and Pratiksha Hospital, Gauhati, India.
  • Raut S; Institute of Child Health, Kolkata, India.
  • Parakh P; Apollo Hospital, Kolkata, India.
  • Basu S; North Bengal Medical College, Darjeeling, India.
  • Srivastava P; Neotia Getwel Healthcare Center, Siliguri, India.
  • Nayak S; Institute of Child Health, Kolkata, India.
  • Thenral SG; Post Graduate Institute of Medical Education and Research, Chandigarh, India.
  • Ramprasad V; SVPPGIP & SCB Medical College, Cuttack, India.
  • Ashton E; Medgenome Labs Ltd, Bangalore, India.
  • Bockenhauer D; Medgenome Labs Ltd, Bangalore, India.
  • Mandal K; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children, NHS Foundation Trust, London, UK.
Pediatr Nephrol ; 37(8): 1811-1836, 2022 08.
Article en En | MEDLINE | ID: mdl-35006361
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Acidosis Tubular Renal / Síndrome de Bartter / Diabetes Insípida Nefrogénica / Nefrocalcinosis Tipo de estudio: Clinical_trials / Diagnostic_studies / Guideline Límite: Child / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2022 Tipo del documento: Article País de afiliación: India
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Acidosis Tubular Renal / Síndrome de Bartter / Diabetes Insípida Nefrogénica / Nefrocalcinosis Tipo de estudio: Clinical_trials / Diagnostic_studies / Guideline Límite: Child / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Pediatr Nephrol Asunto de la revista: NEFROLOGIA / PEDIATRIA Año: 2022 Tipo del documento: Article País de afiliación: India