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Sharda, Sheetal
37  results:
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1

Detecting Mosaicism of Monosomy X Using FISH in Prenatal Sa..:

Murarka, Shiva ; Biswas, Debaashish ; Bhatt, Samarth...
Journal of Fetal Medicine.  , 2024
Link: https://doi.org/10.1055/..
 
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2

P717: The landscape of clinical geneticists' perspectives a..:

Patil, Sushma ; Kotecha, Udhaya ; Sharda, Sheetal..
Genetics in Medicine Open.  2 (2024)  - p. 101621 , 2024
Link: https://doi.org/10.1016/..
 
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3

P472: Exploring diagnostic yield and challenges in exome se..:

Rajakumar, Nivedita ; Krishnakumar, Manaswini ; Kotecha, Udhaya...
Genetics in Medicine Open.  2 (2024)  - p. 101371 , 2024
Link: https://doi.org/10.1016/..
 
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4

Familial Infantile spasm syndrome due to biallelic variants..:

Raha, Sarbani ; Kotecha, Udhaya ; Mistri, Mehul..
Medical Reports.  2 (2023)  - p. 100002 , 2023
Link: https://doi.org/10.1016/..
 
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5

A Rare Case of Microduplication on Chromosome 13 Detected a..:

Murarka, Shiva ; Kotecha, Udhaya ; Pamnani, Dirgha..
Journal of Fetal Medicine.  10 (2023)  1 - p. 049-051 , 2023
Link: https://doi.org/10.1055/..
 
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6

Detection of IEMs by Mass Spectrometry Techniques in High-R..:

Patial, Ajay ; Saini, Arushi Gahlot ; Kaur, Rajdeep...
Indian Journal of Pediatrics.  89 (2022)  9 - p. 885-893 , 2022
Link: https://doi.org/10.1007/..
 
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7

Expanding the spectrum of ADNP‐related disorder‐Antenatally..:

Asegaonkar, Prashant ; Kotecha, Udhaya ; Dongre, Mayuresh..
American Journal of Medical Genetics Part A.  191 (2022)  1 - p. 275-279 , 2022
Link: https://doi.org/10.1002/..
 
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8

Exome sequencing and microarray identified a novel large ex..:

Kumar, C. P. Ravi ; Tamhankar, Parag M. ; Manohar, Radhika...
Journal of Genetics.  102 (2022)  1 - p. , 2022
Link: https://doi.org/10.1007/..
 
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9

NGS-based expanded carrier screening for genetic disorders ..:

Singh, Kanika ; Bijarnia-Mahay, Sunita ; Ramprasad, V. L....
BMC Medical Genetics.  21 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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10

Seven novel genetic variants in a North Indian cohort with ..:

Kaur, Rajdeep ; Attri, Savita V. ; Saini, Arushi G....
Scientific Reports.  10 (2020)  1 - p. , 2020
Link: https://doi.org/10.1038/..
 
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11

First International Conference on RASopathies and Neurofibr..:

Rauen, Katherine A. ; Alsaegh, Abeer ; Ben‐Shachar, Shay...
American Journal of Medical Genetics Part A.  179 (2019)  6 - p. 1091-1097 , 2019
Link: https://doi.org/10.1002/..
 
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12

Recurrent and novel GLB1 mutations in India:

Bidchol, Abdul Mueed ; Dalal, Ashwin ; Trivedi, Rakesh...
Gene.  567 (2015)  2 - p. 173-181 , 2015
Link: https://doi.org/10.1016/..
 
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13

Analysis of 26 amino acids in human plasma by HPLC using AQ..:

Sharma, Gaurav ; Attri, Savita Verma ; Behra, Bijaylaxmi...
Amino Acids.  46 (2014)  5 - p. 1253-1263 , 2014
Link: https://doi.org/10.1007/..
 
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14

MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Ex..:

Sharda, Sheetal ; Panigrahi, Inusha ; Marwaha, Ram Kumar
Case Reports in Genetics.  2011 (2011)  - p. 1-4 , 2011
Link: https://doi.org/10.1155/..
 
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15

Shwachman–Diamond syndrome in India:

Jha, Ajaya Kumar ; Bansal, Deepak ; Sharda, Sheetal...
Pediatric Blood & Cancer.  58 (2011)  3 - p. 479-480 , 2011
Link: https://doi.org/10.1002/..
 
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