Chamara S. Paththinige

Kynsey Road
Colombo, 00800, Sri Lanka

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 14 publications

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report.

A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report.

Journal: BMC neurology

Published: September 23, 2020

Turner syndrome in diverse populations.

Turner syndrome in diverse populations.

Journal: American journal of medical genetics. Part A

Published: September 11, 2019

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.

Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature.

Journal: BMC medical genetics

Published: February 11, 2019

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans.

The Frequency and Spectrum of Chromosomal Translocations in a Cohort of Sri Lankans.

Journal: BioMed research international

Published: October 25, 2018

Population Screening for Hemoglobinopathies.

Population Screening for Hemoglobinopathies.

Journal: Annual review of genomics and human genetics

Published: May 13, 2018

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.

A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature.

Journal: BMC medical genomics

Published: April 21, 2018

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

Journal: Lipids in health and disease

Published: January 09, 2018

Williams-Beuren syndrome in diverse populations.

Williams-Beuren syndrome in diverse populations.

Journal: American journal of medical genetics. Part A

Published: December 18, 2017

Noonan syndrome in diverse populations.

Noonan syndrome in diverse populations.

Journal: American journal of medical genetics. Part A

Published: May 05, 2017

Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Journal: Lipids in health and disease

Published: March 27, 2017

22q11.2 deletion syndrome in diverse populations.

22q11.2 deletion syndrome in diverse populations.

Journal: American journal of medical genetics. Part A

Published: January 05, 2017

Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.

Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature.

Journal: BMC pediatrics

Published: November 02, 2016

Showing 1-12 of 14

Last Updated: 09/26/2026