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1 . Academic Journal
Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre
저자
by
Jayesh Sheth
;
Aadhira Nair
;
Frenny Sheth
;
Manali Ajagekar
;
Tejasvi Dhondekar
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-17 (2024)
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7 . Academic Journal
Development, validation and application of single molecule molecular inversion probe based novel integrated genetic screening method for 29 common lysosomal storage disorders in India
저자
by
Harsh Sheth
;
Aadhira Nair
;
Riddhi Bhavsar
;
Mahesh Kamate
;
Vykuntaraju K. Gowda
, et al.
소스
Human Genomics, Vol 18, Iss 1, Pp 1-20 (2024)
Open Access (BioMed Central)
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7 . Academic Journal
Hand Radiographs in Skeletal Dysplasia: A Pictorial Review
저자
by
Dheeksha D. S.
;
Stuti Chandola
;
Aayush Jain
;
Neerja Gupta
;
Madhulika Kabra
, et al.
소스
Indian Journal of Radiology and Imaging, Vol 34, Iss 02, Pp 291-308 (2024)
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7 . Academic Journal
Impact of Structured Reporting of Skeletal Survey in Skeletal Dysplasia: A Single Institution Experience
저자
by
Amit Gupta
;
Neerja Gupta
;
Madhulika Kabra
;
Tejinder Kaur
;
Pavan Gabra
, et al.
소스
Indian Journal of Radiology and Imaging, Vol 33, Iss 02, Pp 144-149 (2023)
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7 . Academic Journal
NEXT-GENERATION SEQUENCING AND CHROMOSOMAL MICROARRAY ANALYSIS FOR GENETIC EVALUATION OF DYSTONIA
저자
by
Arti Saini
;
Rahul Mewara
;
Bhawna Verma
;
Inder Singh
;
Vinod Scaria
, et al.
소스
IBRO Neuroscience Reports, Vol 15, Iss , Pp S930- (2023)
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7 . Academic Journal
Multidisciplinary team for genetic disorders – Integration with clinicians and health-care professionals
저자
by
Mounika Endrakanti
;
Neerja Gupta
.
소스
Apollo Medicine, Vol 20, Iss 2, Pp 144-147 (2023)
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4 . Academic Journal
Bilateral anterior uveitis as a presenting feature of Juvenile Xanthogranuloma in a neonate
저자
by
Brajesh Lahri
;
Zakir Hussain
;
Neerja Gupta
;
Shikha Gupta
;
Abhishek Singh
, et al.
소스
American Journal of Ophthalmology Case Reports, Vol 31, Iss , Pp 101867- (2023)
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7 . Academic Journal
Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting
저자
by
Aradhana Dwivedi
;
Amita Moirangthem
;
Himani Pandey
;
Pankaj Sharma
;
Priyanka Srivastava
, et al.
소스
Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-9 (2022)
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7 . Academic Journal
Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients
저자
by
Sheela Nampoothiri
;
Dhanya Yesodharan
;
Amrita Bhattacherjee
;
Hisham Ahamed
;
Ratna Dua Puri
, et al.
소스
JIMD Reports, Vol 56, Iss 1, Pp 82-94 (2020)
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7 . Academic Journal
Spine radiograph in dysplasias: A pictorial essay
저자
by
Pavan Gabra
;
Manisha Jana
;
Priyanka Naranje
;
Neerja Gupta
;
Madhulika Kabra
, et al.
소스
Indian Journal of Radiology and Imaging, Vol 30, Iss 04, Pp 436-447 (2020)
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