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Sunita Bijarnia-Mahay
93  Ergebnisse:
Personensuche X
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1

CEDNIK Syndrome – A Report of a Clinically Recognizable Dis..:

Bijarnia-Mahay, Sunita ; Bhatia, Sameer ; Gupta, Deepti...
Indian Journal of Pediatrics.  91 (2024)  8 - p. 874-874 , 2024
Link: https://doi.org/10.1007/..
 
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2

Methylmalonic Acidemia – Matter Most Awaited!:

Bijarnia-Mahay, Sunita
Indian Journal of Pediatrics.  91 (2024)  7 - p. 651-652 , 2024
Link: https://doi.org/10.1007/..
 
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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

A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication ..:

Bajracharya, Luna ; Lall, Meena ; Bijarnia-Mahay, Sunita...
Case Reports in Genetics.  2023 (2023)  - p. 1-9 , 2023
Link: https://doi.org/10.1155/..
 
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5

Thiamine, transporters, and epilepsy:

, In: Vitamins and Minerals in Neurological Disorders,
Bijarnia-Mahay, Sunita ; Saini, Arushi Gahlot ; Mahay, Harjit Singh - p. 275-293 , 2023
Link: https://doi.org/10.1016/..
 
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6

Contributors:

, In: Vitamins and Minerals in Neurological Disorders,
Adlard, Paul A. ; Afridi, Hassan Imran ; Agarwal, Renu... - p. xxv-xxxiv , 2023
Link: https://doi.org/10.1016/..
 
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7

Farber disease clinical impact: Patient reported outcomes a..:

Mitchell, John ; Harmatz, Paul ; Selim, Laila...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S83-S84 , 2022
Link: https://doi.org/10.1016/..
 
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8

Subcutaneous nodules as a clinical biomarker of Farber dise..:

Mitchell, John ; Harmatz, Paul ; Selim, Laila...
Molecular Genetics and Metabolism.  135 (2022)  2 - p. S84 , 2022
Link: https://doi.org/10.1016/..
 
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9

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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10

Clinical and Genetic Profile of Children With Short Stature..:

Singh, Kanika ; Puri, Ratna Dua ; Bijarnia-Mahay, Sunita...
Indian Pediatrics.  59 (2022)  6 - p. 463-466 , 2022
Link: https://doi.org/10.1007/..
 
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11

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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12

Progress in Diagnosis and Management of Intellectual Disabi..:

Bijarnia-Mahay, Sunita ; Sandal, Sapna ; Suman, Praveen
Indian Pediatrics.  59 (2022)  11 - p. 875-878 , 2022
Link: https://doi.org/10.1007/..
 
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13

Rapid Detection and Treatment of Inborn Errors of Metabolis..:

Bijarnia-Mahay, Sunita ; Mishra, Ranjana
Indian Journal of Pediatrics.  88 (2021)  5 - p. 433-434 , 2021
Link: https://doi.org/10.1007/..
 
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14

Prenatal Diagnosis by Chromosome Microarray Analysis, An In..:

Bajaj Lall, Meena ; Agarwal, Shruti ; Paliwal, Preeti...
The Journal of Obstetrics and Gynecology of India.  71 (2021)  2 - p. 156-167 , 2021
Link: https://doi.org/10.1007/..
 
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15

Challenges in Chronic Genetic Disorders: Lessons From the C..:

Pal, Swasti ; Bhatia, Sameer ; Bijarnia-Mahay, Sunita..
Indian Pediatrics.  58 (2021)  4 - p. 391-392 , 2021
Link: https://doi.org/10.1007/..
 
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