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Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling.
Narayanan, Dhanya Lakshmi; Udyawar, Divya; Kaur, Parneet; Sharma, Suvasini; Suresh, Narayanaswamy; Nampoothiri, Sheela; do Rosario, Michelle C; Somashekar, Puneeth H; Rao, Lakshmi Priya; Kausthubham, Neethukrishna; Majethia, Purvi; Pande, Shruti; Ramesh Bhat, Y; Shrikiran, Aroor; Bielas, Stephanie; Girisha, Katta Mohan; Shukla, Anju.
Afiliación
  • Narayanan DL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Udyawar D; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Kaur P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Sharma S; Department of Pediatrics (Neurology division), Lady Hardinge Medical College and Kalawati Saran Children's Hospital, New Delhi, India.
  • Suresh N; Department of Pediatrics (Neurology division), Lady Hardinge Medical College and Kalawati Saran Children's Hospital, New Delhi, India.
  • Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Cochin, India.
  • do Rosario MC; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Somashekar PH; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Rao LP; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Kausthubham N; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Majethia P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Pande S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Ramesh Bhat Y; Department of Pediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Shrikiran A; Department of Pediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Bielas S; Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI, USA.
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
  • Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. anju.shukla@manipal.edu.
Eur J Hum Genet ; 29(12): 1774-1780, 2021 12.
Article en En | MEDLINE | ID: mdl-34276053
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Polimorfismo Genético / Pruebas Genéticas / Penetrancia / Herencia Multifactorial / Asesoramiento Genético / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: India
Texto completo
Imprimir
XML
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Polimorfismo Genético / Pruebas Genéticas / Penetrancia / Herencia Multifactorial / Asesoramiento Genético / Enfermedades Genéticas Congénitas Tipo de estudio: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article País de afiliación: India