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Mistri, Mehul
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1

Burden of rare genetic disorders in India: twenty-two years..:

Sheth, Jayesh ; Nair, Aadhira ; Sheth, Frenny...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

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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3

Novel mutation as a cause of anterior segment dysgenesis le..:

Pritti, Kumari ; Mishra, Vineet ; Aggarwal, Somesh..
Egyptian Journal of Medical Human Genetics.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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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

Proband only exome sequencing in 403 Indian children with n..:

Pranav Chand, Rayabarapu ; Vinit, Wankhede ; Vaidya, Varsha...
European Journal of Medical Genetics.  66 (2023)  5 - p. 104730 , 2023
Link: https://doi.org/10.1016/..
 
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6

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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7

The diagnostic utility of exome‐based carrier screening in ..:

Kotecha, Udhaya Hardik ; Mistri, Mehul ; Rayabarapu, Pranavchand..
American Journal of Medical Genetics Part A.  188 (2022)  4 - p. 1323-1333 , 2022
Link: https://doi.org/10.1002/..
 
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8

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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9

Identification of novel variants in a large cohort of child..:

Mistri, Mehul ; Mehta, Sanjeev ; Solanki, Dhaval...
Journal of Human Genetics.  64 (2019)  10 - p. 985-994 , 2019
Link: https://doi.org/10.1038/..
 
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10

Gaucher disease: single gene molecular characterization of ..:

Sheth, Jayesh ; Bhavsar, Riddhi ; Mistri, Mehul...
BMC Medical Genetics.  20 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
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11

Identification of novel and known mutation in 19 patients w..:

Mistri, Mehul A. ; Dalal, Ashwin ; Nath, Payal...
Molecular Genetics and Metabolism.  123 (2018)  2 - p. S96 , 2018
Link: https://doi.org/10.1016/..
 
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12

Identification of deletion-duplication in HEXA gene in five..:

Sheth, Jayesh ; Mistri, Mehul ; Mahadevan, Lakshmi...
BMC Medical Genetics.  19 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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13

Batten disease: biochemical and molecular characterization ..:

Sheth, Jayesh ; Mistri, Mehul ; Bhavsar, Riddhi...
BMC Neurology.  18 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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14

Biochemical and molecular characterization of adult patient..:

Sheth, Jayesh ; Pancholi, Dhairya ; Mistri, Mehul...
BMC Medical Genetics.  19 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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15

Pulmonary manifestations in Niemann-Pick type C disease wit..:

Sheth, Jayesh ; Joseph, Jijo John ; Shah, Krati...
BMC Medical Genetics.  18 (2017)  1 - p. , 2017
Link: https://doi.org/10.1186/..
 
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