Results 121 to 130 of about 11,828,008 (230)

PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases

Human Mutation, 2015
The discovery of disease‐causing mutations typically requires confirmation of the variant or gene in multiple unrelated individuals, and a large number of rare genetic diseases remain unsolved due to difficulty identifying second families.
Orion J. Buske, M. Gîrdea, Sergiu Dumitriu, Bailey Gallinger, T. Hartley, Heather P Trang, A. Misyura, Tal Friedman, C. Beaulieu, W. Bone, Amanda E Links, N. Washington, M. Haendel, Peter N. Robinson, C. Boerkoel, D. Adams, W. Gahl, K. Boycott, M. Brudno   +18 more
semanticscholar   +1 more source

Health Care Challenges of Hereditary Common Hematological Disorders in Odisha, India [PDF]

, 2012
Medical Genetics over the past few decades have emerged as an important and powerful medical specialty with increasing appreciation of its role and function in the biomedical sciences.
Balgir, RS
core   +1 more source

The Genetic Disease, Hypoascorbemia: A Fresh Approach to an Ancient Disease and Some of its Medical Implications [PDF]

, 1967
Irwin Stone
openalex   +1 more source

SCGN deficiency results in colitis susceptibility

eLife, 2019
Inflammatory bowel disease (IBD) affects 1.5–3.0 million people in the United States. IBD is genetically determined and many common risk alleles have been identified. Yet, a large proportion of genetic predisposition remains unexplained.
Luis F Sifuentes-Dominguez, Haiying Li, Ernesto Llano, Zhe Liu, Amika Singla, Ashish S Patel, Mahesh Kathania, Areen Khoury, Nicholas Norris, Jonathan J Rios, Petro Starokadomskyy, Jason Y Park, Purva Gopal, Qi Liu, Shuai Tan, Lillienne Chan, Theodora Ross, Steven Harrison, K Venuprasad, Linda A Baker, Da Jia, Ezra Burstein   +21 more
doaj   +1 more source

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

Genetics in Medicine, 2015
Purpose:Despite the recognized clinical value of exome-based diagnostics, methods for comprehensive genomic interpretation remain immature. Diagnoses are based on known or presumed pathogenic variants in genes already associated with a similar phenotype.
Xiaoling Zhu, S. Petrovski, S. Petrovski, Pingxing Xie, Pingxing Xie, E. Ruzzo, Yi-Fan Lu, K. M. McSweeney, B. Ben-Zeev, B. Ben-Zeev, A. Nissenkorn, A. Nissenkorn, Y. Anikster, Y. Anikster, D. Oz-Levi, R. Dhindsa, Y. Hitomi, Y. Hitomi, K. Schoch, Rebecca C. Spillmann, G. Heimer, D. Marek‐Yagel, M. Tzadok, M. Tzadok, Yujun Han, G. Worley, J. Goldstein, Yong-hui Jiang, D. Lancet, E. Pras, V. Shashi, D. Mchale, A. Need, A. Need, D. Goldstein   +34 more
semanticscholar   +1 more source

THE “HOST FACTOR” IN DISEASE: GENETIC AND ENVIRONMENTAL INTERACTION [PDF]

, 1961
Richard H. Osborne
openalex   +1 more source

Cystinuria: biochemical evidence for three genetically distinct diseases. [PDF]

, 1966
Leah Rosenberg, Sylvia J. Downing, J. L. Durant, Stanton Segal   +3 more
openalex   +1 more source

Role of Epidemiological Studies in Disease Prevention [PDF]

, 2019
Today's society is full of disease that are of different natures including genetic, infectious and metabolic etc. Every disease has its own mechanisms of affecting humans and different prevention mechanisms as per disease nature.
Akthar, M. S. (Muhammad)
core  

Genetic Aspects of Cardiovascular Diseases in Animals [PDF]

, 1964
D. K. Detweiler
openalex   +1 more source

Genetic Variants of von Willebrand's Disease [PDF]

, 1972
Lars Holmberg, I. M. Nilsson
openalex   +1 more source