E-LIB Suche - Ergebnisse für: Shah, Krati

1

Molecular Diagnosis of Muscular Dystrophy Patients in Weste..:

Patel, Komal M. ; Bhatt, Arpan D. ; Shah, Krati...
Frontiers in Genetics. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

2

Mutational Landscape for Indian Hereditary Breast and Ovari..:

Kadri, Mohammed Shaad N. ; Patel, Komal M. ; Bhargava, Poonam A....
Frontiers in Oncology. 10 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

3

Whole exome sequencing reveals novel LEPR frameshift mutati..:

Bhatt, Arpan ; Purani, Charul ; Bhargava, Poonam...
Molecular Genetics & Genomic Medicine. 7 (2019) 7 - p. , 2019

Link: https://doi.org/10.1002/..

4

Molecular characterization and evaluation of complex rearra..:

Tewari, Stuti ; Lubna, Naznin ; Shah, Raju...
Molecular Cytogenetics. 10 (2017) 1 - p. , 2017

Link: https://doi.org/10.1186/..

5

Novel mutations in the LRP5 gene in patients with Osteoporo..:

Pekkinen, Minna ; Grigelioniene, Giedre ; Akin, Leyla...
American Journal of Medical Genetics Part A. 173 (2017) 12 - p. 3132-3135 , 2017

Link: https://doi.org/10.1002/..

6

C‐reactive protein gene polymorphisms (rs1205) in Asian Ind..:

Nair, Aswin M. ; Goel, Ruchika ; Hindhumati, Mohan...
International Journal of Rheumatic Diseases. 21 (2017) 3 - p. 732-739 , 2017

Link: https://doi.org/10.1111/..

7

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/..

8

Novel LINS1 missense mutation in a family with non‐syndromi..:

Sheth, Jayesh ; Ranjan, Gyan ; Shah, Krati..
American Journal of Medical Genetics Part A. 173 (2017) 4 - p. 1041-1046 , 2017

Link: https://doi.org/10.1002/..

9

GM2 gangliosidosis AB variant: novel mutation from India – ..:

Sheth, Jayesh ; Datar, Chaitanya ; Mistri, Mehul...
BMC Pediatrics. 16 (2016) 1 - p. , 2016

Link: https://doi.org/10.1186/..

10

Prader-Willi syndrome - type 1 deletion, a consequence of a..:

Sheth, Frenny ; Liehr, Thomas ; Shah, Krati.
Molecular Cytogenetics. 8 (2015) 1 - p. , 2015

Link: https://doi.org/10.1186/..

11

Cockayne syndrome: characteristic neuroimaging features:

Simon, Betty ; Oommen, Samuel P. ; Shah, Krati..
Acta Neurologica Belgica. 115 (2014) 3 - p. 427-428 , 2014

Link: https://doi.org/10.1007/..

12

An Indian Boy with Additional Features in Pallister-Killian..:

Shah, Krati ; George, Renu ; Balla, Evangelynn Singh...
The Indian Journal of Pediatrics. 79 (2011) 9 - p. 1238-1240 , 2011

Link: https://doi.org/10.1007/..

13

Mutational Landscape for Indian Hereditary Breast and Ovari..:

Kadri, Mohammed Shaad N ; Patel, Komal M ; Bhargava, Poonam A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7859489/. , 2021

Link: http://www.ncbi.nlm.nih...

14

Whole exome sequencing reveals novel LEPR frameshift mutati..:

Bhatt, Arpan ; Purani, Charul ; Bhargava, Poonam...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625100/. , 2019

Link: http://www.ncbi.nlm.nih...

15

GM2 gangliosidosis AB variant: novel mutation from India – ..:

Sheth, Jayesh ; Datar, Chaitanya ; Mistri, Mehul...
http://www.biomedcentral.com/1471-2431/16/88. , 2016

Link: http://www.biomedcentral..