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

by Paththinige, C.S, Rajapakse, J.R.D.K, Constantine, G.R, Sem, K.P, Singaraja, R.R, Jayasekara, R.W, Dissanayake, V.H.W
Published 2020

Noonan syndrome in diverse populations

by Kruszka P., Porras A., Addissie Y., Moresco A., Medrano S., Mok G., Leung G., Tekendo-Ngongang C., Uwineza A., Thong M., Muthukumarasamy P., Honey E., Ekure E., Sokunbi O., Kalu N., Jones K., Kaplan J., Abdul-Rahman O., Vincent L., Love A., Belhassan K., Ouldim K., El Bouchikhi I., Shukla A., Girisha K., Patil S., Sirisena N., Dissanayake V., Paththinige C., Mishra R., Klein-Zighelboim E., Gallardo Jugo B., Chávez Pastor M., Abarca-Barriga H., Skinner S., Prijoles E., Badoe E., Gill A., Shotelersuk V., Smpokou P., Kisling M., Ferreira C., Mutesa L., Megarbane A., Kline A., Kimball A., Okello E., Lwabi P., Aliku T., Tenywa E., Boonchooduang N., Tanpaiboon P., Richieri-Costa A., Wonkam A., Chung B., Stevenson R., Summar M., Mandal K., Phadke S., Obregon M., Linguraru M., Muenke M.
Published 2017

Williams-Beuren syndrome in diverse populations

by Kruszka, Paul, Porras, Antonio R., de Souza, Deise Helena, Moresco, Angélica, Huckstadt, Victoria, Gill, Ashleigh D., Boyle, Alec P., Hu, Tommy, Addissie, Yonit A., Mok, Gary T. K., Tekendo-Ngongang, Cedrik, Fieggen, Karen, Prijoles, Eloise J., Tanpaiboon, Pranoot, Honey, Engela, Luk, Ho-Ming, Lo, Ivan F. M., Thong, Meow Keong, Muthukumarasamy, Premala, Jones, Kelly L., Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Bouguenouch, Laila, Shukla, Anju, Girisha, Katta M., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Kisling, Monisha S., Ferreira, Carlos R., de Herreros, María Beatriz, Lee, Ni-Chung, Jamuar, Saumya S., Lai, Angeline, Tan, Ee Shien, Ying Lim, Jiin, Wen-Min, Cham Breana, Gupta, Neerja, Lotz-Esquivel, Stephanie, Badilla-Porras, Ramsés, Hussen, Dalia Farouk, El Ruby, Mona O., Ashaat, Engy A., Patil, Siddaramappa J., Dowsett, Leah, Eaton, Alison, Innes, A. Micheil, Shotelersuk, Vorasuk, Badoe, Ëben, Wonkam, Ambroise, Obregon, María Gabriela, Chung, Brian H. Y., Trubnykova, Milana, La Serna, Jorge, Gallardo Jugo, Bertha Elena, Chávez Pastor, Miguel, Abarca Barriga, Hugo Hernán, Megarbane, Andre, Kozel, Beth A., van Haelst, Mieke M., Stevenson, Roger E., Summar, Marshall, Adeyemo, A. Adebowale, Morris, Colleen A., Moretti-Ferreira, Danilo, Linguraru, Marius George, Muenke, Maximilian
Published 2018