Results 261 to 270 of about 247,558 (284)

Genetic, Clinical and Neuroradiological Spectrum of MED-Related Disorders: An Updated Review. [PDF]

Genes (Basel)
Fazio A, Leonardi R, Aliotta L, Lo Bianco M, Anastasio G, Messina G, Spatola C, Foti PV, Palmucci S, Basile A, Ruggieri M, David E.   +11 more
europepmc   +1 more source

Revisiting classical <i>Escherichia coli</i> cell division mutants by whole-genome sequencing. [PDF]

Microb Genom
Dahdouh E, García-Pérez I, Reyes-Zuñagua DS, Mingorance J, Vicente M.   +4 more
europepmc   +1 more source

Molecular markers associated with elevated colorectal cancer risk: a mini review. [PDF]

Hered Cancer Clin Pract
Szuman M, Kazimierczyk M, Grot N, Kaczmarek-Ryś M, Kryszczyńska A, Dziechciowska I, Knaur M, Hnatyszyn A, Hryhorowicz S, Pławski A.   +9 more
europepmc   +1 more source

Decoding molecular signatures and identifying therapeutic targets in triple-negative breast cancer subtypes using omics and network analysis. [PDF]

Sci Rep
Sanyal D, AlShahrani AM, Kar S, Ahmad SR, Mal C, Mondal SK.   +5 more
europepmc   +1 more source

<i>GCK</i> Mutation Analysis and Clinical Profiles of Chinese Pediatric Patients with MODY2: Insights into Screening and Diagnosis. [PDF]

Pediatric Health Med Ther
Su C, Piao Y, Chen C, Miao Y, Wu D, Sang Y.   +5 more
europepmc   +1 more source

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Predicting Oncogenic Missense Mutations

2019 IEEE EMBS International Conference on Biomedical & Health Informatics (BHI), 2019
With the rapid progress of cancer genome studies, many missense mutations in populations of somatic cells of different cancer types and at different stages have been identified. However, it is challenging to understand the implications of these cancer-related variants.
Xue, Lei, Boshen, Wang, Alan, Perez-Rathke, Wei, Tian, Chia-Yi, Chou, Yan Yuan, Tseng, Jie, Liang   +6 more
openaire   +2 more sources

Two Novel Missense Mutations in Nonketotic Hyperglycinemia

Journal of Child Neurology, 2014
Nonketotic hyperglycinemia (OMIM no. 605899) is an autosomal recessively inherited glycine encephalopathy, caused by a deficiency in the mitochondrial glycine cleavage system. Here we report 2 neonates who were admitted to the hospital with complaints of respiratory failure and myoclonic seizures with an elevated cerebrospinal fluid/plasma glycine ...
Yilmaz B.S., Kor D., Ceylaner S., Mert G.G., Incecik F., Kartal E., Mungan N.O.   +6 more
openaire   +3 more sources

Missense mutations resulting in type 1 lissencephaly

CMLS Cellular and Molecular Life Sciences, 2005
Proper human brain formation is dependent upon the integrated activity of multiple genes. Malfunctioning of key proteins results in brain developmental abnormalities. Mutation(s) in the LIS1 gene or the X-linked gene doublecortin (DCX) results in a spectrum of disorders including lissencephaly, or "smooth brain", and subcortical band heterotopia, or ...
O, Reiner, F M, Coquelle
openaire   +2 more sources

Making Sense of Missense Mutations

Science Translational Medicine, 2013
Genetic variation that is deleterious is on average younger than neutral variation.
openaire   +1 more source