The Case ∣ Familial occurrence of retinitis pigmentosa, deafness, and nephropathy. [PDF]
, 2011 Foini P +7 more
core +1 more source
Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome [PDF]
, 2018 Meng‐Che Tsai +5 more
openalex +1 more source
Finding Rare, Disease-Associated Variants in Isolated Groups: Potential Advantages of Mennonite Populations [PDF]
, 2017 Large-scale genotyping and next-generation sequencing techniques have allowed great advances in the field of molecular genetics. Numerous common variants of low impact have been associated with many complex human traits and diseases, such as bipolar ...
Alves, Veronica M. +6 more
core +1 more source
A Bayesian method for finding interactions in genomic studies [PDF]
, 2004 An important step in building a multiple regression model is the selection of predictors. In genomic and epidemiologic studies, datasets with a small sample size and a large number of predictors are common.
Chen, Wei +3 more
core +1 more source
Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus [PDF]
, 2003 Leen M. ‘t Hart +3 more
openalex +1 more source
Phosphoproteomic profiling highlights CDC42 and CDK2 as key players in the regulation of the TGF-β pathway in ALMS1 and BBS1 knockout models [PDF]
, 2022 Brais Bea-Mascato +5 more
openalex +1 more source
Species-independent identification of known and novel recurrent genomic entities in multiple cancer patients [PDF]
, 2016 Brunak, Søren +2 more
core +1 more source
Integrating Multiomics and Machine Learning: Senescence-Regulated ALMS1-IT1/miR-7c-5p/HMGA2 Axis as a Novel Therapeutic Target for Head and Neck Squamous Cell Carcinoma. [PDF]
ACS OmegaZhu Y +12 more
europepmc +1 more source