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Kotecha, Udhaya
28  results:
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1

P598: Gene-disease validity assessments in pediatric moveme..:

Kotecha, Udhaya ; Chand Rayabarapu, Pranav ; Mistri, Mehul...
Genetics in Medicine Open.  2 (2024)  - p. 101504 , 2024
Link: https://doi.org/10.1016/..
 
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2

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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3

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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4

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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5

Profile of 208 patients with inborn errors of immunity at a..:

Bhattad, Sagar ; Mohite, Rachna S. ; Singh, Neha...
Clinical and Experimental Medicine.  23 (2023)  8 - p. 5399-5412 , 2023
Link: https://doi.org/10.1007/..
 
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6

Genetic tool used to diagnose achromatopsia: first case rep..:

Pritti, Kumari ; Mishra, Vineet ; Kotecha, Udhaya.
Egyptian Journal of Medical Human Genetics.  24 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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7

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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8

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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9

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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10

Familial Cold Autoinflammatory Syndrome Type 1:

Mohite, Rachna Shanbhag ; Kotecha, Udhaya ; Bhattad, Sagar
Indian Journal of Pediatrics.  88 (2021)  8 - p. 834-834 , 2021
Link: https://doi.org/10.1007/..
 
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11

Bi‐allelic loss of function variants in GOLGA2 are associat..:

Kotecha, Udhaya ; Mistri, Mehul ; Shah, Nidhi..
Clinical Genetics.  100 (2021)  6 - p. 748-751 , 2021
Link: https://doi.org/10.1111/..
 
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12

Evaluating the Utility of Next Generation Sequencing Techno..:

Kotecha, Udhaya ; Puri, Ratna ; Bijarnia, Sunita...
Journal of Fetal Medicine.  6 (2019)  2 - p. 57-62 , 2019
Link: https://doi.org/10.1007/..
 
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13

Mutation update for theGPC3gene involved in Simpson-Golabi-..:

Vuillaume, Marie-Laure ; Moizard, Marie-Pierre ; Rossignol, Sylvie...
Human Mutation.  39 (2018)  6 - p. 790-805 , 2018
Link: https://doi.org/10.1002/..
 
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14

Mutation update for the GPC3 gene involved in Simpson-Golab..:

Vuillaume, Marie-Laure ; Moizard, Marie-Pierre ; Rossignol, Sylvie...
Human Mutation.  39 (2018)  12 - p. 2110-2112 , 2018
Link: https://doi.org/10.1002/..
 
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15

Clinical and molecular characterization of Indian patients ..:

Bhai, Pratibha ; Bijarnia‐Mahay, Sunita ; Puri, Ratna D....
Annals of Human Genetics.  82 (2018)  5 - p. 309-317 , 2018
Link: https://doi.org/10.1111/..
 
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