Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Asodu Sandeep Sarma"'
Autor:
Kuldeep Shetty, Asodu Sandeep Sarma, Meera Devan, Ashwin Dalal, Gopal Krishna Dash, Apuroopa Jannabhatla, Siddaramappa Jagadish Patil
Publikováno v:
Journal of Movement Disorders, Vol 13, Iss 3, Pp 238-240 (2020)
Externí odkaz:
https://doaj.org/article/f5911cb494b64c0b8daf22ad4f6f3359
Publikováno v:
The Journal of Gene Medicine.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a9b039244d80ee5e0b2b9a8cacb002c7
https://doi.org/10.1002/jgm.3501
https://doi.org/10.1002/jgm.3501
Autor:
Asodu Sandeep Sarma, Rohan Peter Mathew, Ashwin Dalal, Venkatraman Bhat, Siddaramappa Jagdish Patil
Publikováno v:
European Journal of Medical Genetics. 66:104772
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f8e041724c1b8347958773441b534c5a
https://doi.org/10.1016/j.ejmg.2023.104772
https://doi.org/10.1016/j.ejmg.2023.104772
Autor:
Jessica R.C. Priestley, Ashish R. Deshwar, Harsha Murthy, Maria Daniela D’Agostino, Lucie Dupuis, Balram Gangaram, Christopher Gray, Rebekah Jobling, Emanuela Pannia, Konrad Platzer, Katrina Prescott, Melody Redman, Alyssa L. Rippert, Jill A. Rosenfeld, Daryl A. Scott, Yi Wen Wang, Zelia Schmederer, Ashwin Dalal, Asodu Sandeep Sarma, Cara Skraban, James.J. Dowling, Roberto Mendoza-Londono, Anne Slavotinek, Elizabeth J. Bhoj
Publikováno v:
Genetics in Medicine. :100863
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::34abe6d93f11d617315a107d363217fc
https://doi.org/10.1016/j.gim.2023.100863
https://doi.org/10.1016/j.gim.2023.100863
Publikováno v:
European Journal of Medical Genetics. 65:104591
Bamforth-Lazarus syndrome is a rare autosomal recessive disease caused by biallelic loss-of-function variants in the FOXE1 gene. The condition is characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76ec704a417f8db259f847a5c19ac974
https://doi.org/10.1016/j.ejmg.2022.104591
https://doi.org/10.1016/j.ejmg.2022.104591
Autor:
Ashwin Dalal, Siddaramappa Jagadish Patil, Asodu Sandeep Sarma, Apuroopa Jannabhatla, Gopal Krishna Dash, Kuldeep Shetty, Meera Devan
Publikováno v:
Journal of Movement Disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca0a34c6a9d9268effff2da09e662f37
http://europepmc.org/articles/PMC7502297
http://europepmc.org/articles/PMC7502297
Autor:
Rakesh Kumar Pilania, Deepti Suri, Ashwin Dalal, Surjit Singh, Jitendra Kumar Shandilya, Pandiarajan Vignesh, Anupriya Kaur, Anit Kaur, Asodu Sandeep Sarma, Madhubala Sharma, Shubham Goel, Amit Rawat
Publikováno v:
Journal of Clinical Immunology. 39:611-615
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9619cf2188ee05643b28f96f213f514c
https://doi.org/10.1007/s10875-019-00661-0
https://doi.org/10.1007/s10875-019-00661-0
Autor:
Prajnya Ranganath, Ashwin Dalal, Akash Ranjan, S Jamal Md Nurul Jain, Sunita Bijarnia-Mahay, Dipti Deshpande, Jayesh Sheth, Madhulika Kabra, Shagun Aggarwal, Katta M. Girisha, Asodu Sandeep Sarma, Kausik Mandal, Mehul Mistri, Mamta N. Muranjan, Preetha Tilak, Naresh B. Tayade, Ratna Dua Puri, Neerja Gupta, A Radha Rama Devi, Shailesh Kumar Gupta, Shubha R. Phadke, Chaitanya Datar
Publikováno v:
Human mutationREFERENCES. 42(10)
Pathogenic variations in SMPD1 lead to acid sphingomyelinase deficiency (ASMD), that is, Niemann-Pick disease (NPD) type A and B (NPA, NPB), which is a recessive lysosomal storage disease. The knowledge of variant spectrum in Indian patients is cruci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69a06663ae8dad43fb0afae05db163b9
https://pubmed.ncbi.nlm.nih.gov/34273913
https://pubmed.ncbi.nlm.nih.gov/34273913
