Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
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| Title: | Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre. |
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| Authors: | Sheth J; FRIGE Institute of Human Genetics, FRIGE House, Ahmedabad, India. jayesh.sheth@frige.co.in., Nair A; FRIGE Institute of Human Genetics, FRIGE House, Ahmedabad, India., Sheth F; FRIGE Institute of Human Genetics, FRIGE House, Ahmedabad, India., Ajagekar M; FRIGE Institute of Human Genetics, FRIGE House, Ahmedabad, India., Dhondekar T; FRIGE Institute of Human Genetics, FRIGE House, Ahmedabad, India., Panigrahi I; Postgraduate Institute of Medical Education and Research, PGIMER, Chandigarh, India., Bavdekar A; Department of Pediatrics, K.E.M Hospital, Pune, India., Nampoothiri S; Department of Paediatrics, Amrita School of Medicine, Kochi, India., Datar C; Bharati Hospital and Research Centre, Dhankawadi, Pune, India., Gandhi A; Unique Hospital, Solapur, India., Muranjan M; Department of Pediatrics, KEM Hospital, Parel, Mumbai, India., Kaur A; Postgraduate Institute of Medical Education and Research, PGIMER, Chandigarh, India., Desai M; FRIGE Institute of Human Genetics, FRIGE House, Ahmedabad, India., Mistri M; FRIGE Institute of Human Genetics, FRIGE House, Ahmedabad, India., Patel C; FRIGE Institute of Human Genetics, FRIGE House, Ahmedabad, India., Naik P; Rainbow Super speciality Hospital, Ahmedabad, India., Shah M; Ortho Kids Clinic, Ahmedabad, India., Godbole K; Deenanath Mangeshkar Hospital & Research Centre, Pune, India., Kapoor S; Division of Genetics & Metabolism Department of Pediatrics, Lok Nayak Hospital and Maulana Azad Medical College, New Delhi, India., Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India., Bijarnia-Mahay S; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India., Kadam S; Department of Pediatrics, K.E.M Hospital, Pune, India., Solanki D; Nirmal Mantra Children's Hospital, Bhavnagar, India., Desai S; Shree Krishna Hospital, Karamsad, Anand, India., Iyer A; Neuro Kids Clinics, Ahmedabad, India., Patel K; Himalaya Arcade, Homeopathy Clinic, Vastrapur, Ahmedabad, India., Patel H; Zydus Hospital & Healthcare Research Pvt Ltd, Ahmedabad, India., Shah RC; Ankur Neonatal Hospital, Ashram Road, Ahmedabad, India., Mehta S; Endokids Clinic, Ahmedabad, India., Shah R; Endokids Clinic, Ahmedabad, India., Bhavsar R; FRIGE Institute of Human Genetics, FRIGE House, Ahmedabad, India., Shah J; FRIGE Institute of Human Genetics, FRIGE House, Ahmedabad, India., Pandya M; FRIGE Institute of Human Genetics, FRIGE House, Ahmedabad, India., Patel B; Brain and Nerve Clinic, Sola, Ahmedabad, India., Shah S; NHL Medical College, Ahmedabad, India., Shah H; Ansa Clinic, S. G. Highway, Ahmedabad, India., Shah S; Ansa Clinic, S. G. Highway, Ahmedabad, India., Bajaj S; The Purple Gene Clinic, Simplex Khushaangan, SV Road, Malad West, Mumbai, India., Shah S; RICN Hospital, Ahmedabad, India., Thaker N; Pediatric Nephrologist, Ahmedabad, India., Kalane U; Deenanath Mangeshkar Hospital & Research Centre, Pune, India., Kamate M; KLES Prabhakar Kore Hospital, Belgaum, India., Kn VR; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Tayade N; Department of Paediatrics, Dr. Panjabrao Deshmukh Memorial Medical College, Amravati, India., Jagadeesan S; Department of Clinical Genetics & Genetic Counselling, Mediscan Systems, Chennai, India., Jain D; Shishu Child Development and Early Intervention Centre, Ahmedabad, India., Chandarana M; Medisquare Superspeciality Hospital and Research Institute, Ahmedabad, India., Singh J; Neurology Clinic, Shivranjini Cross Road, Satellite, Ahmedabad, India., Mehta S; RICN Hospital, Ahmedabad, India., Suresh B; Department of Clinical Genetics & Genetic Counselling, Mediscan Systems, Chennai, India., Sheth H; FRIGE Institute of Human Genetics, FRIGE House, Ahmedabad, India. harsh.sheth@frige.co.in. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Aug 13; Vol. 19 (1), pp. 295. Date of Electronic Publication: 2024 Aug 13. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1750-1172 |
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| DOI: | 10.1186/s13023-024-03300-z |
