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1 . Academic Journal
Mortality by age, gene and gender in carriers of pathogenic mismatch repair gene variants receiving surveillance for early cancer diagnosis and treatment: a report from the prospective Lynch syndrome database
저자
by
Dominguez-Valentin, Mev
;
Haupt, Saskia
;
Seppälä, Toni T.
;
Sampson, Julian R.
;
Sunde, Lone
, et al.
소스
In
eClinicalMedicine
April 2023 58
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7 . Academic Journal
Identification of novel exonic variants contributing to hereditary breast and ovarian cancer in west Indian population
저자
by
Waghela, Bhargav N.
;
Pandit, Ramesh J.
;
Puvar, Apurvasinh
;
Shah, Franky D.
;
Patel, Prabhudas S.
, et al.
소스
In
Gene
5 February 2023 852
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7 . Academic Journal
SCYL2‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond?
저자
by
Malbos, Marlène
;
Vera, Gabriella
;
Sheth, Harsh
;
Schnur, Rhonda E.
;
Juven, Aurélien
, et al.
소스
Clinical Genetics
. Aug2024, p1. 7p. 2 Illustrations.
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7 . Academic Journal
48th annual meeting and international conference of the Indian Society of Human Genetics 2024: fostering collaborations within rare disease research community
저자
by
Sheth, Jayesh
;
Sheth, Harsh
;
Sheth, Frenny
;
Thelma, Bittianda Kuttapa
;
Joshi, Madhvi
, et al.
소스
In
The Lancet Regional Health - Southeast Asia
April 2024 23
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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
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)
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7 . Academic Journal
Patient‐reported outcomes in inguinal hernia surgery—Results from the GENESIS study: A multinational multicenter study.
저자
by
Baig, Sarfaraz
;
Sheth, Harsh
;
Viswanath, Nakul Gokhare
;
Madhok, Brijesh
;
Kalmoush, Abd‐Elfattah
, et al.
소스
World Journal of Surgery
. May2024, Vol. 48 Issue 5, p1132-1138. 7p.
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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)
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7 . Academic Journal
Clinical and Health Economic Evaluation of a Novel Device for Fecal Management in Bedridden Patients.
저자
by
Sheth, Harsh
;
Rao, Shilpa
;
Karthik V.
.
소스
Indian Journal of Critical Care Medicine
. Oct2023, Vol. 27 Issue 10, p759-765. 7p. 2 Color Photographs, 1 Diagram, 3 Charts.
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5 . Academic Journal
Characterization of sSMC by FISH and molecular techniques
저자
by
Sheth, Frenny
;
Andrieux, Joris
;
Ewers, Elisabeth
;
Kosyakova, Nadezda
;
Weise, Anja
, et al.
소스
In
European Journal of Medical Genetics
May-June 2011 54(3):247-255
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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)
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