Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Shruti Bajaj"'
Autor:
Jayesh Sheth, Aadhira Nair, Frenny Sheth, Manali Ajagekar, Tejasvi Dhondekar, Inusha Panigrahi, Ashish Bavdekar, Sheela Nampoothiri, Chaitanya Datar, Ajit Gandhi, Mamta Muranjan, Anupriya Kaur, Manisha Desai, Mehul Mistri, Chitra Patel, Premal Naik, Maulin Shah, Koumudi Godbole, Seema Kapoor, Neerja Gupta, Sunita Bijarnia-Mahay, Sandeep Kadam, Dhaval Solanki, Soham Desai, Anand Iyer, Ketan Patel, Harsh Patel, Raju C. Shah, Shalmi Mehta, Ruchi Shah, Riddhi Bhavsar, Jhanvi Shah, Mili Pandya, Bhagyadhan Patel, Sudhir Shah, Heli Shah, Shalin Shah, Shruti Bajaj, Siddharth Shah, Nilam Thaker, Umesh Kalane, Mahesh Kamate, Vykunta Raju KN, Naresh Tayade, Sujatha Jagadeesan, Deepika Jain, Mitesh Chandarana, Jitendra Singh, Sanjiv Mehta, Beena Suresh, Harsh Sheth
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)
Abstract Background Rare disorders comprise of ~ 7500 different conditions affecting multiple systems. Diagnosis of rare diseases is complex due to dearth of specialized medical professionals, testing labs and limited therapeutic options. There is sc
Externí odkaz:
https://doaj.org/article/2e11021daa8849e989ed195e21ef0b00
Autor:
Harsh Sheth, Aadhira Nair, Riddhi Bhavsar, Mahesh Kamate, Vykuntaraju K. Gowda, Ashish Bavdekar, Sandeep Kadam, Sheela Nampoothiri, Inusha Panigrahi, Anupriya Kaur, Siddharth Shah, Sanjeev Mehta, Sujatha Jagadeesan, Indrani Suresh, Seema Kapoor, Shruti Bajaj, Radha Rama Devi, Ashka Prajapati, Koumudi Godbole, Harsh Patel, Zulfiqar Luhar, Raju C. Shah, Anand Iyer, Sunita Bijarnia, Ratna Puri, Mamta Muranjan, Ami Shah, Suvarna Magar, Neerja Gupta, Naresh Tayade, Ajit Gandhi, Ajit Sowani, Shrutikaa Kale, Anil Jalan, Dhaval Solanki, Ashwin Dalal, Shrikant Mane, C. Ratna Prabha, Frenny Sheth, Chaitanya G. Joshi, Madhvi Joshi, Jayesh Sheth
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-20 (2024)
Abstract Background Current clinical diagnosis pathway for lysosomal storage disorders (LSDs) involves sequential biochemical enzymatic tests followed by DNA sequencing, which is iterative, has low diagnostic yield and is costly due to overlapping cl
Externí odkaz:
https://doaj.org/article/8292fe789fb04f60a6890327d1f87871
Autor:
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
Publikováno v:
JIMD Reports, Vol 65, Iss 2, Pp 85-101 (2024)
Abstract Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at presentation. Several studies have described the phenotype, genotype and treatment outcomes for adult‐onset LSDs like Gaucher, Fabry, Pompe disease and
Externí odkaz:
https://doaj.org/article/cdb338da0152491e98a3940c956fe97f
Autor:
Frenny Sheth, Jhanvi Shah, Deepika Jain, Siddharth Shah, Harshkumar Patel, Ketan Patel, Dhaval I Solanki, Anand S Iyer, Bhargavi Menghani, Priti Mhatre, Sanjiv Mehta, Shruti Bajaj, Vishal Patel, Manoj Pandya, Deepak Dhami, Darshan Patel, Jayesh Sheth, Harsh Sheth
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-15 (2023)
Abstract Background Autism spectrum disorder (ASD) affects 1 in 100 children globally with a rapidly increasing prevalence. To the best of our knowledge, no data exists on the genetic architecture of ASD in India. This study aimed to identify the gen
Externí odkaz:
https://doaj.org/article/0a811d51a4c7480ba1bd9d0625f615fe
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-9 (2022)
Abstract Background Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) is an ultra-rare genetic condition that belongs to the group of spondyloepimetaphyseal dysplasias. It is caused due to presence of biallelic variants in the EX
Externí odkaz:
https://doaj.org/article/dc71625c01eb43c8a34645948e77eaa5
Publikováno v:
Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2564-2569 (2022)
Purpose: To analyze the genetic referral practices of pediatric ophthalmologists in an urban setting. Methods: (1) The first limb of the study: cross-sectional, observational study among children visiting the outpatient department of pediatric ophtha
Externí odkaz:
https://doaj.org/article/631a070364c647f98060d03b65ebd55f
Publikováno v:
Annals of Indian Academy of Neurology, Vol 25, Iss 6, Pp 1167-1169 (2022)
Ataxia-telangiectasia (AT) is a complex genetic neurodegenerative disease with autosomal recessive inheritance. The typical initial features of ataxia telangiectasia include ataxia, cutaneous telangiectasia, and immune deficiency with recurrent infec
Externí odkaz:
https://doaj.org/article/6720cef11f30455aa97314d7df679fa2
Publikováno v:
Annals of Indian Academy of Neurology, Vol 25, Iss 6, Pp 1190-1192 (2022)
Externí odkaz:
https://doaj.org/article/e1cb3485c8194e1cbeaeb5aa85839e61
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-5 (2021)
Abstract Background Bi-allelic mutations in FAM20C gene are known to cause a rare genetic disorder- Raine syndrome (RS). The FAM20C protein binds calcium and phosphorylates proteins involved in biomineralization of bones and teeth. RS is recognized a
Externí odkaz:
https://doaj.org/article/3be17deb874c42f0a89d80a2dfb7ec93
A Case Report: Aneurysmal Bone Cyst Of Proximal Femur With Subtrochanteric Femur Fracture In A Child
Autor:
null Dr. Devank Lohiya, null Dr. Ulhas Dudhekar, null Dr. Shrut Vasavada, null Dr. Shruti Bajaj
Publikováno v:
Journal of Pharmaceutical Negative Results. :251-255
Aneurysmal bone cysts are blood-filled lesions of the bone that are benign, expansile, aggressive, and locally damaging. They havean atypical presentation and an unknown etiology. We present the case of a 17-year-old male youngster who appeared with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::09de5c70d6d73815485addf545b98d39
https://doi.org/10.47750/pnr.2022.13.s05.33
https://doi.org/10.47750/pnr.2022.13.s05.33