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1 . Academic Journal
Autosomal recessive spinocerebellar ataxia 20: Report of a new patient and review of literature
저자
by
Shukla, Anju
;
Upadhyai, Priyanka
;
Shah, Jhanvi
;
Neethukrishna, K.
;
Bielas, Stephanie
, et al.
소스
In
European Journal of Medical Genetics
February 2017 60(2):118-123
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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
Late infantile form of multiple sulfatase deficiency with a novel missense variant in the SUMF1 gene: case report and review.
저자
by
Sheth, Jayesh
;
Shah, Siddharth
;
Datar, Chaitanya
;
Bhatt, Kaveri
;
Raval, Pooja
, et al.
소스
BMC Pediatrics; 3/24/2023, Vol. 23 Issue 1, p1-7, 7p
Open Access (BioMed Central)
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7 . Academic Journal
A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report
저자
by
Sheth, Frenny
;
Shah, Jhanvi
;
Patel, Ketan
;
Patel, Darshan
;
Jain, Deepika
, et al.
소스
BMC Neurology
. 23(1)
Open Access (BioMed Central)
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7 . Report
A Novel Approach for Image Segmentation based on Histograms computed from Hue-data
저자
by
Mavani, Viraj
;
Gurnani, Ayesha
;
Shah, Jhanvi
.
소스
International Journal for Scientific Research and Development [Conference 10 : NCACSET 2017] (2017): pg. 176-179
Open Access (Arxiv)
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5 . Academic Journal
A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome.
저자
by
Shah, Jhanvi
;
Patel, Harsh
;
Jain, Deepika
;
Sheth, Frenny
;
Sheth, Harsh
.
소스
BMC Neurology
. 12/2/2021, Vol. 21 Issue 1, p1-8. 8p.
Open Access (BioMed Central)
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7 . Academic Journal
Case Report: Recurrent Variant c.298 TA in CCN6 Gene Found in Progressive Pseudorheumatoid Dysplasia Patients From Patni Community of Gujarat: A Report of Three Cases.
저자
by
Sheth, Harsh
;
Shah, Jhanvi
;
Nair, Aadhira
;
Naik, Premal
;
Sheth, Jayesh
.
소스
Frontiers in Genetics; 9/28/2021, Vol. 12, p1-6, 6p
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7 . Academic Journal
Recurrent variant c.1680C>A in FAM20C gene and genotype-phenotype correlation in a patient with Raine syndrome: a case report.
저자
by
Bajaj, Shruti
;
Nabi, Fazal
;
Shah, Jhanvi
;
Sheth, Harsh
.
소스
BMC Pediatrics; 3/6/2021, Vol. 21 Issue 1, p1-5, 5p
Open Access (BioMed Central)
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6 . Academic Journal
Bosley–Salih–Alorainy syndrome in patients from India.
저자
by
Patil, Siddaramappa J.
;
Karthik, Gadabanahalli Ashok
;
Bhavani, Gandham SriLakshmi
;
Bhat, Venkatraman
;
Matalia, Jyoti
, et al.
소스
American Journal of Medical Genetics. Part A; Nov2020, Vol. 182 Issue 11, p2699-2703, 5p
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