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Radhakrishnan, Periyasamy
22  results:
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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..
 
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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..
 
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