E-LIB Suche - Ergebnisse für: Pande, Shruti

1

Genetic and phenotypic landscape of pediatric‐onset epileps..:

Majethia, Purvi ; Kaur, Namanpreet ; Mascarenhas, Selinda...
Clinical Genetics. 105 (2024) 6 - p. 639-654 , 2024

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

2

De novo variants underlying monogenic syndromes with intell..:

Pande, Shruti ; Majethia, Purvi ; Nair, Karthik...
European Journal of Human Genetics. , 2023

Link: https://doi.org/10.1038/..

3

Further validation of craniosynostosis as a part of phenoty..:

Pande, Shruti ; Mascarenhas, Selinda ; Venkatraman, Aishwarya...
American Journal of Medical Genetics Part A. 191 (2023) 8 - p. 2175-2180 , 2023

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

4

Nuclear proteostasis imbalance in laminopathy‐associated pr..:

Pande, Shruti ; Ghosh, Debasish Kumar
The FASEB Journal. 37 (2023) 8 - p. , 2023

Link: https://doi.org/10.1096/..

5

The E262K mutation in Lamin A links nuclear proteostasis im..:

Ghosh, Debasish Kumar ; Pande, Shruti ; Kumar, Jeevan...
Aging Cell. 21 (2022) 11 - p. , 2022

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

6

Multilocus disease-causing genomic variations for Mendelian..:

Narayanan, Dhanya Lakshmi ; Udyawar, Divya ; Kaur, Parneet...
European Journal of Human Genetics. 29 (2021) 12 - p. 1774-1780 , 2021

Link: https://doi.org/10.1038/..

7

Biallelic mutations in the death domain of PIDD1 impair cas..:

Sheikh, Taimoor I. ; Vasli, Nasim ; Pastore, Stephen...
Translational Psychiatry. 11 (2021) 1 - p. , 2021

Link: https://doi.org/10.1038/..

8

Hedgehog acyl‐transferase‐related multiple congenital anoma..:

Pande, Shruti ; Radhakrishnan, Periyasamy ; Shetty, Naveenchandra M...
American Journal of Medical Genetics Part A. 185 (2021) 9 - p. 2756-2765 , 2021

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

9

Transcriptome Sequence Reveals Candidate Genes Involving in..:

Siadjeu, Christian ; Mayland-Quellhorst, Eike ; Pande, Shruti..
Plants. 10 (2021) 4 - p. 787 , 2021

Link: https://doi.org/10.3390/..

10

Untapped opportunities for rare disease gene discovery in I..:

Girisha, Katta Mohan ; Pande, Shruti ; Dalal, Ashwin.
American Journal of Medical Genetics Part A. 182 (2020) 12 - p. 3056-3059 , 2020

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

11

Trichothiodystrophy type 4 in an Indian family:

Pande, Shruti ; Shukla, Anju ; Girisha, Katta Mohan
American Journal of Medical Genetics Part A. 182 (2020) 10 - p. 2226-2229 , 2020

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

12

Estrus Detection System in Dairy Cows' using Machine Learni..:

, In: 2023 11th International Conference on Emerging Trends in Engineering & Technology - Signal and Information Processing (ICETET - SIP),

Sasankar, Prachi ; Pande, Ms. Shruti ; Singh, Ms. Pranjali. - p. 1-5 , 2023

Link: https://doi.org/10.1109/..

13

The E262K mutation in Lamin A links nuclear proteostasis im..:

Ghosh, Debasish Kumar ; Pande, Shruti ; Kumar, Jeevan...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9649601/. , 2022

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

14

Multilocus disease-causing genomic variations for Mendelian..:

Narayanan, Dhanya Lakshmi ; Udyawar, Divya ; Kaur, Parneet...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8633282/. , 2021

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

15

Transcriptome Sequence Reveals Candidate Genes Involving in..:

Siadjeu, Christian ; Mayland-Quellhorst, Eike ; Pande, Shruti..
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8074181/. , 2021

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