E-LIB Suche - Ergebnisse für: Acharya, A. (Anushree)

1

Optical genome mapping unveils hidden structural variants i..:

Schrauwen, Isabelle ; Rajendran, Yasmin ; Acharya, Anushree...
Scientific Reports. 14 (2024) 1 - p. , 2024

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

2

Heterogeneous genetic patterns in bilateral perisylvian pol..:

Järvelä, Irma ; Paetau, Ritva ; Rajendran, Yasmin...
Brain Communications. 6 (2024) 3 - p. , 2024

Link: https://doi.org/10.1093/..

3

Rare-variant association analysis reveals known and new age..:

Cornejo-Sanchez, Diana M. ; Li, Guangyou ; Fabiha, Tabassum...
European Journal of Human Genetics. 31 (2023) 6 - p. 638-647 , 2023

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

4

Nonsense variant in a consanguineous family expands the phe..:

Liaqat, Khurram ; Bharadwaj, Thashi ; Shah, Khadim...
Clinical Genetics. 104 (2023) 4 - p. 499-501 , 2023

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

5

A novel variant in CYFIP2 in a girl with severe disabilitie..:

Salokivi, Tommi ; Parkkola, Riitta ; Rajendran, Yasmin...
American Journal of Medical Genetics Part A. 194 (2023) 4 - p. , 2023

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

6

Variants in EFCAB7 underlie nonsyndromic postaxial polydact..:

Bilal, Muhammad ; Khan, Hammal ; Khan, Muhammad Javed...
European Journal of Human Genetics. 31 (2023) 11 - p. 1270-1274 , 2023

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

7

Soil Properties Correlate with Microbial Community Structur..:

Skariah, Sini ; Abdul-Majid, Sara ; Hay, Anthony G....
Microbiology Spectrum. 11 (2023) 2 - p. , 2023

Link: https://doi.org/10.1128/..

8

A Novel Variant in VPS13B Underlying Cohen Syndrome:

Hussain, Abrar ; Acharya, Anushree ; Bharadwaj, Thashi...
BioMed Research International. 2023 (2023) - p. 1-7 , 2023

Link: https://doi.org/10.1155/..

9

A loss of function variant in AGPAT3 underlies intellectual..:

Malik, Madiha Amin ; Saqib, Muhammad Arif Nadeem ; Mientjes, Edwin...
European Journal of Human Genetics. 31 (2023) 12 - p. 1447-1454 , 2023

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

10

A splice site variant in TCTN3 underlies an atypical form o..:

Hussain, Shabir ; Nawaz, Shoaib ; Khan, Hammal...
Annals of Human Genetics. 86 (2022) 6 - p. 291-296 , 2022

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

11

Exome sequencing of families from Ghana reveals known and c..:

Wonkam, Ambroise ; Adadey, Samuel Mawuli ; Schrauwen, Isabelle...
Communications Biology. 5 (2022) 1 - p. , 2022

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

12

Syntaxin 4 is essential for hearing in human and zebrafish:

Schrauwen, Isabelle ; Ghaffar, Amama ; Bharadwaj, Thashi...
Human Molecular Genetics. 32 (2022) 7 - p. 1184-1192 , 2022

Link: https://doi.org/10.1093/..

13

A novel autosomal dominant GREB1L variant associated with n..:

Adadey, Samuel Mawuli ; Aboagye, Elvis Twumasi ; Esoh, Kevin...
BMC Medical Genomics. 15 (2022) 1 - p. , 2022

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

14

Phenotype Expansion for Atypical Gaucher Disease Due to Hom..:

Liaqat, Khurram ; Hussain, Shabir ; Acharya, Anushree...
Genes. 13 (2022) 4 - p. 662 , 2022

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

15

SCN1A Variants as the Underlying Cause of Genetic Epilepsy ..:

Cornejo-Sanchez, Diana M. ; Acharya, Anushree ; Bharadwaj, Thashi...
Genes. 13 (2022) 5 - p. 754 , 2022

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