Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Deepthi de Silva

Showing results (1-10 of 15) with videos related to

Pageof 2
Sort By:
The Ceylon Medical Journal|July 17, 2004
Genetic testing for single gene disordersDeepthi de Silva
Clinical Laboratory|August 28, 2024
Evaluation of an In-House Genetic Testing Method for Confirming Prader-Willi and Angelman Syndromes in Sri LankaNirosha Kugalingam, Deepthi de Silva, Pyara Rathnayake, et al.
BMC Ophthalmology|July 17, 2024
Retinoblastoma patients treated in Sri Lanka from 2014 to 2020: epidemiology, clinical status and correlates of lag time in seeking tertiary care servicesNirosha Kugalingam, Deepthi de Silva, Hiranya Abeysekera, et al.
BMC Medical Genomics|November 6, 2023
RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR)Nirosha Kugalingam, Deepthi De Silva, Hiranya Abeysekera, et al.
Twin Research : the Official Journal of the International Society for Twin Studies|January 23, 2003
Sri Lankan Twin RegistryAthula Sumathipala, Sisira Siribaddana, Nimali De Silva, et al.
BMC Pediatrics|September 26, 2018
Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular featuresDaham De Silva, Kathleen A Williamson, Kavinda Chandimal Dayasiri, et al.
American Journal of Medical Genetics. Part A|June 4, 2020
Characteristic dental pattern with hypodontia and short roots in Fraser syndromeFelix Kunz, Hülya Kayserili, Alina Midro, et al.
Twin Research : the Official Journal of the International Society for Twin Studies|March 11, 2003
Challenges in recruiting older twins for the Sri Lankan twin registryAthula Sumathipala, Sisira H Siribaddana, Nihal M R Abeysingha, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
Exploring the genetic basis of 3MC syndrome: Findings in 12 further familiesJill Urquhart, Rebecca Roberts, Deepthi de Silva, et al.
Human Mutation|January 15, 2013
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2Dorothea Bornholdt, T Prescott Atkinson, Bakar Bouadjar, et al.
Pageof 2

Showing results (1-10 of 15) with videos related to

Sort By:
Pageof 2
The Ceylon Medical Journal|July 17, 2004
Genetic testing for single gene disordersDeepthi de Silva
Clinical Laboratory|August 28, 2024
Evaluation of an In-House Genetic Testing Method for Confirming Prader-Willi and Angelman Syndromes in Sri LankaNirosha Kugalingam, Deepthi de Silva, Pyara Rathnayake, et al.
BMC Ophthalmology|July 17, 2024
Retinoblastoma patients treated in Sri Lanka from 2014 to 2020: epidemiology, clinical status and correlates of lag time in seeking tertiary care servicesNirosha Kugalingam, Deepthi de Silva, Hiranya Abeysekera, et al.
BMC Medical Genomics|November 6, 2023
RB1 screening of retinoblastoma patients in Sri Lanka using targeted next generation sequencing (NGS) and gene ratio analysis copy enumeration PCR (GRACE-PCR)Nirosha Kugalingam, Deepthi De Silva, Hiranya Abeysekera, et al.
Twin Research : the Official Journal of the International Society for Twin Studies|January 23, 2003
Sri Lankan Twin RegistryAthula Sumathipala, Sisira Siribaddana, Nimali De Silva, et al.
BMC Pediatrics|September 26, 2018
Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular featuresDaham De Silva, Kathleen A Williamson, Kavinda Chandimal Dayasiri, et al.
American Journal of Medical Genetics. Part A|June 4, 2020
Characteristic dental pattern with hypodontia and short roots in Fraser syndromeFelix Kunz, Hülya Kayserili, Alina Midro, et al.
Twin Research : the Official Journal of the International Society for Twin Studies|March 11, 2003
Challenges in recruiting older twins for the Sri Lankan twin registryAthula Sumathipala, Sisira H Siribaddana, Nihal M R Abeysingha, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
Exploring the genetic basis of 3MC syndrome: Findings in 12 further familiesJill Urquhart, Rebecca Roberts, Deepthi de Silva, et al.
Human Mutation|January 15, 2013
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2Dorothea Bornholdt, T Prescott Atkinson, Bakar Bouadjar, et al.
Pageof 2