Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India.
Saved in:
| Title: | Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India. |
|---|---|
| Authors: | Sheth H; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015. harsh.sheth@frige.co.in., Nair A; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015., Bhavsar R; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015., Kamate M; KLES Prabhakar Kore Hospital, Belgaum, Karnataka, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Bavdekar A; Department of Pediatrics, K.E.M Hospital, Pune, India., Kadam S; Department of Pediatrics, K.E.M Hospital, Pune, India., Nampoothiri S; Department of Paediatrics, Amrita School of Medicine, Kochi, India., Panigrahi I; Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India., Kaur A; Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India., Shah S; Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, India., Mehta S; Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, India., Jagadeesan S; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai, India., Suresh I; Department of Clinical Genetics and Genetic Counselling, Mediscan Systems, Chennai, India., Kapoor S; Division of Genetics and Metabolism Department of Pediatrics, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India., Bajaj S; The Purple Gene Clinic, Simplex Khushaangan, SV Road, Malad West, Mumbai, India., Devi RR; Rainbow Children's Hospital, Hyderabad, India., Prajapati A; Genetic Care Clinic, Ahmedabad, India., Godbole K; Deenanath Mangeshkar Hospital &Amp; Research Centre, Pune, India., Patel H; Zydus Hospital & Healthcare Research Pvt Ltd, Ahmedabad, India., Luhar Z; Civil Hospital, Asarwa, Ahmedabad, India., Shah RC; Ankur Institute of Child Health, Ahmedabad, India., Iyer A; Neurokids Clinic, Ahmedabad, India., Bijarnia S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Puri R; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Muranjan M; Department of Paediatrics, KEM Hospital, Parel, Mumbai, India., Shah A; BJ Wadia Hospital for Children, Parel, Mumbai, India., Magar S; MGM Medical College, Aurangabad, India., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Tayade N; Department of Pediatrics, Dr. Panjabrao Deshmukh Memorial Medical College, Amravati, India., Gandhi A; Unique Hospital, Solapur, India., Sowani A; Zydus Hospital & Healthcare Research Pvt Ltd, Ahmedabad, India., Kale S; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015., Jalan A; NIRMAN, Vashi, India., Solanki D; Mantra Child Neurology and Epilepsy Hospital, Bhavnagar, India., Dalal A; Diagnostics Division, Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India., Mane S; Department of Genetics, Yale School of Medicine, Yale Center for Genome Analysis, West Haven, CT, USA., Prabha CR; Department of Biochemistry, Faculty of Science, The M. S. University of Baroda, Vadodara, India., Sheth F; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015., Joshi CG; Gujarat Biotechnology Research Centre, Gandhinagar, Gujarat, India., Joshi M; Gujarat Biotechnology Research Centre, Gandhinagar, Gujarat, India., Sheth J; FRIGE Institute of Human Genetics, FRIGE House, Jodhpur Village Road, Satellite, Ahmedabad, India, 380015. Jayesh.sheth@frige.co.in. |
| Source: | Human genomics [Hum Genomics] 2024 May 10; Vol. 18 (1), pp. 46. Date of Electronic Publication: 2024 May 10. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1479-7364 |
|---|---|
| DOI: | 10.1186/s40246-024-00613-9 |
