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1 . 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
Sheth, Harsh
;
Nair, Aadhira
;
Bhavsar, Riddhi
;
Kamate, Mahesh
;
Gowda, Vykuntaraju K.
, et al.
소스
Human Genomics; 5/10/2024, Vol. 18 Issue 1, p1-20, 20p
Open Access (BioMed Central)
Web of Science
Scopus
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7 . Academic Journal
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
저자
by
Sheth, Jayesh
;
Nair, Aadhira
;
Bhavsar, Riddhi
;
Godbole, Koumudi
;
Datar, Chaitanya
, et al.
소스
Journal of Inherited Metabolic Disease Reports; Mar2024, Vol. 65 Issue 2, p85-101, 17p
Open Access (Wiley)
Scopus
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7 . Academic Journal
Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre
저자
by
Sheth, Jayesh
;
Nair, Aadhira
;
Sheth, Frenny
;
Ajagekar, Manali
;
Dhondekar, Tejasvi
, et al.
소스
Orphanet Journal of Rare Diseases
. 19(1)
Open Access (BioMed Central)
Web of Science
Scopus
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7 . Academic Journal
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.
저자
by
Sheth, Frenny
;
Shah, Jhanvi
;
Jain, Deepika
;
Shah, Siddharth
;
Patel, Harshkumar
, et al.
소스
BMC Neurology
. 8/5/2023, Vol. 23 Issue 1, p1-15. 15p.
Open Access (BioMed Central)
Web of Science
Scopus
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7 . Academic Journal
Novel De Novo TBL1XR1 Variant Causing PIERPONT Syndrome in an Indian Child: A Case Report and Genotype–Phenotype Review of Reported Patients.
저자
by
Bajaj, Shruti
;
Gadgil, Pradnya
;
Seenappa, Venu
;
Setty, Phani N.
;
Joshi, Vaishali
, et al.
소스
Journal of Pediatric Neurology; Dec2022, Vol. 20 Issue 6, p423-428, 6p
Web of Science
Scopus
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7 . Academic Journal
A Case Report: Aneurysmal Bone Cyst Of Proximal Femur With Subtrochanteric Femur Fracture In A Child.
저자
by
Lohiya, Devank
;
Dudhekar, Ulhas
;
Vasavada, Shrut
;
Bajaj, Shruti
.
소스
Journal of Pharmaceutical Negative Results
. 2022 Special Issue, Vol. 13, p251-255. 5p.
Scopus
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6 . Periodical
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
저자
by
Pande, Shruti
;
Majethia, Purvi
;
Nair, Karthik
;
Rao, Lakshmi Priya
;
Mascarenhas, Selinda
, et al.
소스
European Journal of Human Genetics: EJHG; 20230101, Issue: Preprints p1-8, 8p
Web of Science
Scopus
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7 . Academic Journal
Cross-sectional observational analysis of the genetic referral practices across pediatric ophthalmology outpatient departments in an urban setting.
저자
by
Bajaj, Shruti
;
Venkatraman, Mathangi
;
Agarwal, Nidhi
;
Kothari, Mihir
.
소스
Indian Journal of Ophthalmology
. Jul2022, Vol. 70 Issue 7, p2564-2569. 6p.
Web of Science
Scopus
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6 . Academic Journal
Exome Sequencing Reveals Diagnosis of LAMA2-Muscular Dystrophy and Possibility of Coexisting Bethlem Myopathy in a Neonate.
저자
by
Bajaj, Shruti
;
Shah, Piyush
;
Seenappa, Venu
;
Kalyankar, Jayashree
;
Hingwala, Divyata
.
소스
Journal of Pediatric Neurology; 2022, Vol. 20 Issue 3, p202-207, 6p
Web of Science
Scopus
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7 . Academic Journal
An ultra-rare case of immunoskeletal dysplasia with neurodevelopmental abnormalities in an Indian patient with homozygous c.953C > T variant in EXTL3 gene: a case report.
저자
by
Bajaj, Shruti
;
Satoskar, Purnima
;
Nair, Aadhira
;
Sheth, Frenny
;
Sheth, Jayesh
, et al.
소스
BMC Pediatrics; 2/3/2022, Vol. 22 Issue 1, p1-9, 9p
Open Access (BioMed Central)
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