Results 71 to 80 of about 15,235 (121)

Geneticization in MIM/OMIM®? Exploring Historic and Epistemic Drivers of Contemporary Understandings of Genetic Disease.

Journal of Medicine and Philosophy, 2017
R. Ankeny
semanticscholar   +1 more source

Coexistence of T-Cell Lymphoblastic Lymphoma and Ichthyosis Vulgaris: A Case Report. [PDF]

Case Rep Oncol Med
Kamış ŞÇ, Yağcı B.
europepmc   +1 more source

DNA methylation data from Japanese patients with Rubinstein-Taybi syndrome. [PDF]

Hum Genome Var
Kawai T, Aoki T, Nakabayashi K, Hata K, Kaname T, Kosaki R.   +5 more
europepmc   +1 more source

Unbiased human genomic characterization of polyglutamine disorder genes to guide biological understanding and therapeutic strategies. [PDF]

HGG Adv
Namuli KL, Drögemöller BI, Wright GEB.
europepmc   +1 more source

Computational biological analysis reveals that HIF-1 and FoxO signaling pathways influence cognitive impairment in patients with depression. [PDF]

Transl Psychiatry
Zhuo C, Zhang Y, Zhang Q, Yang L, Chen X, Ma X, Li R, Wang L, Tian H, Mao F.   +9 more
europepmc   +1 more source

Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes. [PDF]

Nat Commun
Badonyi M, Marsh JA.
europepmc   +1 more source

Utilizing Network Toxicology and Molecular Dynamics Simulations to Efficiently Evaluate the Neurotoxicity and Underlying Mechanisms of the Endocrine-Disrupting Chemical Triclosan. [PDF]

Int J Mol Sci
Wang H, Du Y, Ji J, Wang C, Yu Z, Li X, Lv Y, Guan S.   +7 more
europepmc   +1 more source

Rare Copy Number Variants Intersecting Parkinson's-associated Genes in a Cohort of children With Autism Spectrum Disorders. [PDF]

Neurosci Insights
Erbescu A, Papuc SM, Budișteanu M, Dobre M, Iliescu C, Hinescu ME, Arghir A, Neagu M.   +7 more
europepmc   +1 more source

Molecular mechanisms of the Suting Pill in the treatment of asthma: A study based on network pharmacology and molecular docking. [PDF]

Medicine (Baltimore)
Wang W, Gong L, Zhong S, Ling J.
europepmc   +1 more source

Enhancing Mobility: Surgical Deformity Correction and Rehabilitation in Emery-Dreifuss Muscular Dystrophy Type 2. [PDF]

Cureus
Debnath A, Athani B, Das J, Chandini NC.
europepmc   +1 more source