E-LIB Suche - Ergebnisse für: Puri, Ratna D.

1

Development, validation and application of single molecule ..:

Sheth, Harsh ; Nair, Aadhira ; Bhavsar, Riddhi...
Human Genomics. 18 (2024) 1 - p. , 2024

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

2

The Impact of Isolated Increased Nuchal Translucency ≥95th ..:

Khatter, Sangeeta ; Lall, Meena ; Agrawal, Shruti...
Journal of Fetal Medicine. 10 (2023) 1 - p. 009-015 , 2023

Link: https://doi.org/10.1055/..

3

Farber disease clinical impact: Patient reported outcomes a..:

Mitchell, John ; Harmatz, Paul ; Selim, Laila...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S83-S84 , 2022

Link: https://doi.org/10.1016/..

4

Subcutaneous nodules as a clinical biomarker of Farber dise..:

Mitchell, John ; Harmatz, Paul ; Selim, Laila...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S84 , 2022

Link: https://doi.org/10.1016/..

5

A data set of variants derived from 1455 clinical and resea..:

Kausthubham, Neethukrishna ; Shukla, Anju ; Gupta, Neerja...
Human Mutation. 42 (2021) 4 - p. , 2021

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

6

Lysosomal storage disorders: Novel and frequent pathogenic ..:

Thomas, Divya C. ; Sharma, Sandeepika ; Puri, Ratna D...
Clinical Biochemistry. 89 (2021) - p. 14-37 , 2021

Link: https://doi.org/10.1016/..

7

Genetic analysis of familial hypercholesterolemia in Asian ..:

Setia, Nitika ; Movva, Sireesha ; Balakrishnan, Prahlad...
Journal of Clinical Lipidology. 14 (2020) 1 - p. 35-45 , 2020

Link: https://doi.org/10.1016/..

8

Spectrum of mutations in genes associated with familial col..:

Bhai, Pratibha ; Kulshrestha, Samarth ; Puri, Ratna D....
Indian Journal of Gastroenterology. 39 (2020) 6 - p. 599-607 , 2020

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

9

Co-inheritance of pathogenic variants in PKD1 and PKD2 gene..:

Arora, Veronica ; Bijarnia-Mahay, Sunita ; Tiwari, Vaibhav...
European Journal of Medical Genetics. 63 (2020) 3 - p. 103734 , 2020

Link: https://doi.org/10.1016/..

10

ASAH1pathogenic variants associated with acid ceramidase de..:

Elsea, Sarah H. ; Solyom, Alexander ; Martin, Kirt...
Human Mutation. 41 (2020) 9 - p. 1469-1487 , 2020

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

11

Expanding the phenotypic and genotypic spectrum of Wiedeman..:

Arora, Veronica ; Puri, Ratna D. ; Bijarnia‐Mahay, Sunita.
American Journal of Medical Genetics Part A. 182 (2020) 5 - p. 953-956 , 2020

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

12

Farber disease (acid ceramidase deficiency) natural history..:

Mitchell, John ; Harmatz, Paul ; Grant, Christina...
Molecular Genetics and Metabolism. 129 (2020) 2 - p. S111 , 2020

Link: https://doi.org/10.1016/..

13

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/..

14

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/..

15

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/..