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Puri, Ratna Dua
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1

Rare but Perils of Unaware - Fibrodysplasia Ossificans Prog..:

Puri, Ratna Dua
Indian Journal of Pediatrics.  91 (2024)  8 - p. 771-772 , 2024
Link: https://doi.org/10.1007/..
 
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2

Addressing diagnostic gaps and priorities of the global rar..:

Adams, David R. ; van Karnebeek, Clara D.M. ; Agulló, Sergi Beltran...
European Journal of Medical Genetics.  70 (2024)  - p. 104951 , 2024
Link: https://doi.org/10.1016/..
 
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3

Role of next generation sequencing in diagnosis and managem..:

Bhatia, Sameer ; Pal, Swasti ; Kulshrestha, Samarth...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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4

Unmet needs in countries participating in the undiagnosed d..:

Sciascia, Savino ; Roccatello, Dario ; Salvatore, Marco...
Frontiers in Public Health.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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5

Undiagnosed diseases: Needs and opportunities in 20 countri..:

Taruscio, Domenica ; Salvatore, Marco ; Lumaka, Aimè...
Frontiers in Public Health.  11 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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6

The molecular landscape of oculocutaneous albinism in India..:

Kohli, Sudha ; Saxena, Renu ; Puri, Ratna Dua...
European Journal of Human Genetics.  , 2023
Link: https://doi.org/10.1038/..
 
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7

Next-Generation Sequencing in Unexplained Intellectual Disa..:

Sandal, Sapna ; Verma, Ishwar Chander ; Mahay, Sunita Bijarnia...
Indian Journal of Pediatrics.  91 (2023)  7 - p. 682-695 , 2023
Link: https://doi.org/10.1007/..
 
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8

A report of 5 Indian families with multicentric carpotarsal..:

Gupta, Neerja ; Chakraborty, Soumalya ; Chowdhury, Madhumita Roy...
European Journal of Medical Genetics.  66 (2023)  9 - p. 104822 , 2023
Link: https://doi.org/10.1016/..
 
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9

Fetal Endocardial Valvular and Supravalvular Calcification ..:

Bhatia, Sameer ; Aggarwal, Neeraj ; Vaidya, Ashima.
Journal of Fetal Medicine.  9 (2022)  3/04 - p. 101-104 , 2022
Link: https://doi.org/10.1007/..
 
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10

Genotype-phenotype spectrum of 130 unrelated Indian familie..:

Agrawal, Neha ; Verma, Gaurav ; Saxena, Deepti...
European Journal of Medical Genetics.  65 (2022)  3 - p. 104447 , 2022
Link: https://doi.org/10.1016/..
 
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11

Computational biology insights into genotype-clinical pheno..:

Biji, Ishpreet K. ; Yadav, Siddharth ; Kulshrestha, Samarth...
European Journal of Medical Genetics.  65 (2022)  10 - p. 104595 , 2022
Link: https://doi.org/10.1016/..
 
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12

Indian Undiagnosed Diseases Program (I-UDP) — The Unmet Nee:

Puri, Ratna Dua ; Dalal, Ashwin ; Moirangthem, Amita
Indian Pediatrics.  59 (2022)  3 - p. 198-200 , 2022
Link: https://doi.org/10.1007/..
 
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13

Erratum to: Clinical and Genetic Profile of Children With S..:

Singh, Kanika ; Puri, Ratna Dua ; Bijarnia-Mahay, Sunita...
Indian Pediatrics.  59 (2022)  7 - p. 580-580 , 2022
Link: https://doi.org/10.1007/..
 
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14

Hypomelanosis of Ito:

Arora, Veronika ; Tandon, Rinky ; Puri, Ratna Dua...
Indian Journal of Pediatrics.  89 (2022)  11 - p. 1117-1119 , 2022
Link: https://doi.org/10.1007/..
 
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15

Preparing the workforce for genomic medicine: International..:

, In: Genomic Medicine Skills and Competencies,
Johnson, Desalyn L. ; Korf, Bruce R. ; Ascurra, Marta... - p. 131-139 , 2022
Link: https://doi.org/10.1016/..
 
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