Ratna Dua Puri

Ratna Dua Puri

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Ratna Dua Puri

Ratna Dua Puri

Publications by authors named "Ratna Dua Puri"

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38Publications

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Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.

J Pediatr 2020 Jan 9;216:44-50.e5. Epub 2019 Oct 9.

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC.

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http://dx.doi.org/10.1016/j.jpeds.2019.08.058DOI Listing
January 2020

Prenatal presentation of a rare genetic disorder: a clinical, autopsy and molecular correlation.

Autops Case Rep 2019 Oct-Dec;9(4):e2019124. Epub 2019 Sep 30.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital. New Delhi, India.

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http://dx.doi.org/10.4322/acr.2019.124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6771443PMC
September 2019

Is Molecular Diagnosis Necessary for Children with Duchenne Muscular Dystrophy?

Authors:
Ratna Dua Puri

Indian Pediatr 2019 07;56(7):549-550

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India

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July 2019

The fatal fetal tumor: a geneticist's perspective.

J Matern Fetal Neonatal Med 2019 Jun 3:1-3. Epub 2019 Jun 3.

a Institute of Medical Genetics and Genomics , Sir Ganga Ram Hospital , New Delhi , India.

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http://dx.doi.org/10.1080/14767058.2019.1622671DOI Listing
June 2019

Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype.

Indian J Dermatol 2019 Mar-Apr;64(2):143-145

Department of Medical Genetics, Institute of Genomics and Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India.

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http://www.e-ijd.org/text.asp?2019/64/2/143/254163
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http://dx.doi.org/10.4103/ijd.IJD_510_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440177PMC
April 2019

Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome.

Mol Syndromol 2019 Jan 14;9(6):312-318. Epub 2018 Dec 14.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1159/000494995DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381899PMC
January 2019

Fetal valproate syndrome as a phenocopy of Kleefstra syndrome.

Birth Defects Res 2018 09 27;110(15):1205-1209. Epub 2018 Aug 27.

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1002/bdr2.1379DOI Listing
September 2018

Clinical heterogeneity and molecular profile of triple A syndrome: a study of seven cases.

J Pediatr Endocrinol Metab 2018 Jul;31(7):799-807

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1515/jpem-2018-0023DOI Listing
July 2018

Hotspots in PTPN11 Gene Among Indian Children With Noonan Syndrome.

Indian Pediatr 2017 Aug 4;54(8):638-643. Epub 2017 Jun 4.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute, Lucknow, Uttar Pradesh; *GRIPMER and Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi; #Clinical Genetics, Narayana Hrudayalaya Hospitals, Bangalore, Karnataka, India. Correspondence to: Dr Kausik Mandal, Associate Professor, Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute, Lucknow, Uttar Pradesh, India.

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http://dx.doi.org/10.1007/s13312-017-1125-zDOI Listing
August 2017

Erratum to: Genetic Approach to Diagnosis of Intellectual Disability.

Indian J Pediatr 2017 Mar;84(3):256

Ganga Ram Institute of Postgraduate Medical Research and Education, Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.

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http://dx.doi.org/10.1007/s12098-016-2252-6DOI Listing
March 2017

Genetic Approach to Diagnosis of Intellectual Disability.

Indian J Pediatr 2016 Oct 13;83(10):1141-9. Epub 2016 Sep 13.

Ganga Ram Institute of Postgraduate Medical Research and Education, Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, New Delhi, 110060, India.

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http://dx.doi.org/10.1007/s12098-016-2205-0DOI Listing
October 2016

Is the diagnostic yield influenced by the indication for fetal autopsy?

Am J Med Genet A 2016 08 20;170(8):2119-26. Epub 2016 May 20.

Center of Medical Genetics, Ganga Ram Institute of Postgraduate Medical Education and Research, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi, India.

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http://dx.doi.org/10.1002/ajmg.a.37743DOI Listing
August 2016

Next Generation Sequencing in the Clinic.

Authors:
Ratna Dua Puri

Indian J Pediatr 2016 Apr 13;83(4):281-2. Epub 2016 Feb 13.

Center of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, 110060, India.

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http://dx.doi.org/10.1007/s12098-016-2035-0DOI Listing
April 2016

Prenatal diagnosis in India is not limited to sex selection.

Genet Med 2015 Jan;17(1):88

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1038/gim.2014.149DOI Listing
January 2015

Variability in CYP2C9 allele frequency: a pilot study of its predicted impact on warfarin response among healthy South and North Indians.

Pharmacol Rep 2013 ;65(1):187-94

Centre of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar-110060, New Delhi, India.

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http://dx.doi.org/10.1016/s1734-1140(13)70977-0DOI Listing
October 2013

Survival analysis of Down syndrome cohort in a tertiary health care center in India.

Indian J Pediatr 2013 Feb 26;80(2):118-23. Epub 2012 Jul 26.

Center of Medical Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, 110060, New Delhi, India.

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http://dx.doi.org/10.1007/s12098-012-0836-3DOI Listing
February 2013

Down syndrome in India--diagnosis, screening, and prenatal diagnosis.

Clin Lab Med 2012 Jun;32(2):231-48

Center of Medical Genetics, Sir Ganga Ram Hospital, Rajender Nagar, New Delhi, India.

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http://linkinghub.elsevier.com/retrieve/pii/S027227121200036
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http://dx.doi.org/10.1016/j.cll.2012.04.010DOI Listing
June 2012

Leber's hereditary optic neuropathy with molecular characterization in two Indian families.

Indian J Ophthalmol 2005 Sep;53(3):167-71

Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.4103/0301-4738.16674DOI Listing
September 2005

Genetic counseling: the impact in Indian milieu.

Indian J Pediatr 2004 Dec;71(12):1079-82

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1007/bf02829818DOI Listing
December 2004

Dysmorphology diagnosis.

Indian J Pediatr 2004 Jun;71(6):535-9

Department of Genetic Medicine, Sir Ganga Ram Hospital, New Delhi, India.

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http://dx.doi.org/10.1007/bf02724297DOI Listing
June 2004

Catel-Manzke syndrome without cleft palate: a case report.

Clin Dysmorphol 2003 Oct;12(4):279-81

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1097/00019605-200310000-00015DOI Listing
October 2003

Polymorphisms in the apolipoprotein B-100 gene: association with plasma lipid concentration and coronary artery disease.

Indian Heart J 2003 Jan-Feb;55(1):60-4

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow.

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September 2003

Recurrence of complex camptopolydactyly in a sibling suggestive of autosomal recessive mode of inheritance.

Am J Med Genet A 2003 Jan;116A(1):94-6

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1002/ajmg.a.10086DOI Listing
January 2003

Further delineation of mandibulofacial dysostosis: Toriello type.

Clin Dysmorphol 2002 Apr;11(2):91-3

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.

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http://dx.doi.org/10.1097/00019605-200204000-00003DOI Listing
April 2002