I agree that this site is using cookies. You can find further informations here.
X
Sheth, Frenny
141  results:
Search for persons X
?
1

Ring Chromosome 6:

, In: Human Ring Chromosomes,
Sheth, Frenny ; Shah, Jhanvi ; Sheth, Harsh - p. 123-138 , 2024
Link: https://doi.org/10.1007/..
 
?
2

48th annual meeting and international conference of the Ind..:

Sheth, Jayesh ; Sheth, Harsh ; Sheth, Frenny...
The Lancet Regional Health - Southeast Asia.  23 (2024)  - p. 100373 , 2024
Link: https://doi.org/10.1016/..
 
?
3

Late infantile form of multiple sulfatase deficiency with a..:

Sheth, Jayesh ; Shah, Siddharth ; Datar, Chaitanya...
BMC Pediatrics.  23 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
?
4

A novel case of two siblings harbouring homozygous variant ..:

Sheth, Frenny ; Shah, Jhanvi ; Patel, Ketan...
BMC Neurology.  23 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
?
5

Comparative yield of molecular diagnostic algorithms for au..:

Sheth, Frenny ; Shah, Jhanvi ; Jain, Deepika...
BMC Neurology.  23 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
?
6

Late infantile and adult‐onset metachromatic leukodystrophy..:

Sheth, Jayesh ; Nair, Aadhira ; Bhavsar, Riddhi...
JIMD Reports.  64 (2023)  4 - p. 265-273 , 2023
Link: https://doi.org/10.1002/..
 
?
7

An ultra-rare case of immunoskeletal dysplasia with neurode..:

Bajaj, Shruti ; Satoskar, Purnima ; Nair, Aadhira...
BMC Pediatrics.  22 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
?
8

The GALNS p.P77R variant is a probable Gujarati-Indian foun..:

Sheth, Harsh ; Naik, Premal ; Shah, Maulin...
BMC Genomics.  23 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
?
9

Clinical characterization of 72 patients with del(22)(q11.2..:

Méndez-Rosado, Luis A. ; de León-Ojeda, Norma ; García, Alina...
Egyptian Journal of Medical Human Genetics.  23 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
?
10

A rare case of a male child with post-zygotic de novo mosai..:

Shah, Jhanvi ; Patel, Harsh ; Jain, Deepika..
BMC Neurology.  21 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
?
11

Mosaic chromosome 18 anomaly delineated in a child with dys..:

Sheth, Harsh ; Trivedi, Sunil ; Liehr, Thomas...
BMC Medical Genomics.  13 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
?
12

Rare cause of Hemophagocytic Lymphohistiocytosis due to mut..:

Sheth, Jayesh ; Patel, Akash ; Shah, Raju...
BMC Pediatrics.  19 (2019)  1 - p. , 2019
Link: https://doi.org/10.1186/..
 
?
13

Elucidation of the phenotypic spectrum and genetic landscap..:

Boonsawat, Paranchai ; Joset, Pascal ; Steindl, Katharina...
Genetics in Medicine.  21 (2019)  9 - p. 2043-2058 , 2019
Link: https://doi.org/10.1038/..
 
?
14

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/..
 
?
15

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/..
 
1-15