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Radhakrishnan, Periyasamy
22
results:
Search for persons
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Format
Online (22)
Mediatypes
Articles (Online) (14)
Bookchapter (Online) (1)
OpenAccess-fulltext (7)
Sorted by: Relevance
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?
1
Intragenic homozygous duplication in HEPACAM is associated ..:
Kaur, Namanpreet
;
Arora, Khyati
;
Radhakrishnan, Periyasamy
..
neurogenetics. , 2024
Link:
https://doi.org/10.1007/..
?
2
Genome sequencing enables diagnosis and treatment of SLC5A6..:
Riley, Lisa G.
;
Sabui, Subrata
;
Said, Hamid M.
...
European Journal of Human Genetics. 32 (2024) 8 - p. 947-953 , 2024
Link:
https://doi.org/10.1038/..
?
3
Unlocking the promise of liquid biopsies in precision oncol..:
Pando-Caciano, Alejandra
;
Trivedi, Rakesh
;
Pauwels, Jarne
...
The Journal of Liquid Biopsy. 3 (2024) - p. 100151 , 2024
Link:
https://doi.org/10.1016/..
?
4
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/..
?
5
Novel biallelic variants expand the SLC5A6-related phenotyp..:
Holling, Tess
;
Nampoothiri, Sheela
;
Tarhan, Bedirhan
...
European Journal of Human Genetics. 30 (2022) 4 - p. 439-449 , 2022
Link:
https://doi.org/10.1038/..
?
6
A bi‐allelic missense change c.638A > G in matrix metallopr..:
Nampoothiri, Sheela
;
Dsouza, Jeanne Maria
;
Yesodharan, Dhanya
...
Clinical Genetics. 103 (2022) 3 - p. 369-370 , 2022
Link:
https://doi.org/10.1111/..
?
7
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/..
?
8
Bi-allelic variant c.8638_8658dup in HYDIN causes bronchiec..:
Radhakrishnan, Periyasamy
;
Magazine, Rahul
;
Surendra, Vyshak Uddur
...
Gene Reports. 21 (2020) - p. 100961 , 2020
Link:
https://doi.org/10.1016/..
?
9
Explanation for mild and severe osteogenesis imperfecta phe..:
Radhakrishnan, Periyasamy
;
Somashekar, Puneeth H.
;
Girisha, Katta M.
Gene Reports. 21 (2020) - p. 100803 , 2020
Link:
https://doi.org/10.1016/..
?
10
Meckel syndrome: Clinical and mutation profile in six fetus..:
Radhakrishnan, Periyasamy
;
Nayak, Shalini S.
;
Shukla, Anju
..
Clinical Genetics. 96 (2019) 6 - p. 560-565 , 2019
Link:
https://doi.org/10.1111/..
?
11
Biallelic c.1263dupC in DOK7 results in fetal akinesia defo..:
Radhakrishnan, Periyasamy
;
Shukla, Anju
;
Girisha, Katta M.
.
American Journal of Medical Genetics Part A. 182 (2019) 4 - p. 804-807 , 2019
Link:
https://doi.org/10.1002/..
?
12
c.202_204del in NUP214 causes late onset form of febrile en..:
Farooqui, Sheeba
;
Narayanan, Dhanya Lakshmi
;
Mascarenhas, Selinda
...
American Journal of Medical Genetics Part A. 194 (2024) 5 - p. , 2024
Link:
https://doi.org/10.1002/..
?
13
The Genomics of Arthrogryposis, a Complex Trait: Candidate ..:
ŞAHİN, İbrahim
;
Hempel, Maja
;
Gulec, Elif Yilmaz
...
1385f83c-3e33-4116-ac67-7fd32c705edd. , 2019
Link:
https://doi.org/10.1016/..
?
14
The Genomics of Arthrogryposis, a Complex Trait: Candidate ..:
Pehlivan, Davut
;
Bayram, Yavuz
;
Gunes, Nilay
...
https://hdl.handle.net/20.500.12645/10311. , 2019
Link:
https://hdl.handle.net/2..
?
15
The Genomics of Arthrogryposis, a Complex Trait: Candidate ..:
Pehlivan, Davut
;
Bayram, Yavuz
;
Gunes, Nilay
...
https://aperta.ulakbim.gov.tr/record/72507. , 2019
Link:
https://aperta.ulakbim.g..
1-15