Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Tilak R. Shrestha"'
Autor:
Bin Alwi Zilfalil, Tilak R. Shrestha, Sarifah Hanafi, Matrika Bhattarai, Rosline Hassan, Wardah Yusof, Raju Lama
Publikováno v:
Hematology/Oncology and Stem Cell Therapy.
Background Beta-thalassemia is a genetic disorder that is inherited in an autosomal recessive pattern. This genetic disease leads to a defective beta-globin hemoglobin chain causing partial or complete beta-globin chain synthesis loss. Beta-thalassem
Autor:
Chin Bahadur Pun, Wan Khairunnisa Wan Juhari, Bin Alwi Zilfalil, Khairul Bariah Ahmad Amin Noordin, Wan Faiziah Wan Abdul Rahman, Andee Dzulkarnaen Zakaria, Wardah Yusof, Tilak R. Shrestha, Matrika Bhattarai, Raju Lama
Publikováno v:
Medical Journal of Indonesia, Vol 29, Iss 2 (2020)
BACKGROUND Hereditary nonpolyposis colorectal cancer, or Lynch syndrome, caused by germline mutations or genetic defects in mismatch repair (MMR) genes (MLH1, MSH2, PMS2, MSH6, and epithelial cellular adhesion molecule), is an autosomal dominant cond
Autor:
Rajkumar Ramesar, Jim Kaput, Wayne W. Grody, Vu Chi Dung, Thomas P. Weber, Graham R. Taylor, George P. Patrinos, Bin Alwi Zilfalil, Mona O. El-Ruby, Arleen D. Auerbach, Makia J. Marafie, Kevin Carpenter, Augusto Rojas-Martinez, Ming Qi, Heather J. Howard, Helen M. Robinson, María-Jesús Sobrido, Garry R. Cutting, Milan Macek, Thomy de Ravel, Martina Witsch-Baumgartner, Andreas Hadjisavvas, Lynn B. Jorde, David L. Rimoin, Fahd Al-Mulla, Timothy D. Smith, Mauno Vihinen, Tilak R. Shrestha, Ghazi O. Tadmouri, Lotfi Chouchane, Sherifa A. Hamed, Feliciano J. Ramos, Carmancita Padilla, Xi-Tao Li, Richard G.H. Cotton, Yoichi Matsubara, John Burn, Julia A. Hasler
Publikováno v:
Human Mutation
The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. The two main pillars of this effort are gene/disease-specific databases a