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Chapter-18 Recent Advances in the Diagnosis and Treatment of Genetic Disorders

BOOK TITLE: IAP Recent Advances in Pediatrics

Author

1. Kabra Madhulika
2. Correa Alec Reginald Errol

ISBN

9789354656132

DOI

10.5005/jp/books/18596_19

Edition

Vol. 2

Publishing Year

2022

Pages

Author Affiliations

1. All India Institute of Medical Sciences, New Delhi, India, AIIMS, New Delhi, India, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India, All India Institute of Medical Sciences Ansari Nagar, New Delhi, India, All India Institute of Medical Sciences, New Delhi 110029, India, All India Institute of Medical Sciences, New Delhi, All India Institute of Medical Sciences (AIIMS), New Delhi, India, New Delhi, All India Institutes of Medical Sciences (AIIMS), New Delhi, India
2. Institute of Liver and Biliary Sciences, New Delhi, India

Chapter keywords

Genetic disorder, recent advances, diagnosis, treatment, chromosomal disorder, monogenic disorder, investigation, chromosomal microarray, genome sequencing, management, ribonucleic acid, small molecule therapy

Abstract

Abstract

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