Results 291 to 300 of about 1,540,335 (330)

Case Report: Compound Heterozygous SCNN1B Mutations Causing Pseudohypoaldosteronism Type 1B2 in Neonatal Twins. [PDF]

Mol Genet Genomic Med
Wang Z, Long L, Bi H.
europepmc   +1 more source

StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia. [PDF]

Case Rep Endocrinol
Alabduljabbar A, Farooq D, Abid S, Aljazaeri S, Alhuthil R, Alsagheir A.   +5 more
europepmc   +1 more source

Case report: First report of metastatic esophageal squamous cell carcinoma with EGFR p.S768I mutation: remarkable response to third-generation EGFR-TKI. [PDF]

NPJ Precis Oncol
Liu Y, Wu C, Wang L, Sun W, Liu B, Ren W.   +5 more
europepmc   +1 more source

Unveiling Rare Genetic Variants in DAB2IP: New Insights Into the Pathogenesis of Recurrent Angioedema

Allergy, EarlyView.
Maurizio Margaglione, Maria D'Apolito, Rosa Santacroce, Giorgia Cordisco, Francesco Arcoleo, Tiziana De Pasquale, Ilaria Puxeddu, Andrea Zanichelli, Mauro Cancian   +8 more
wiley   +1 more source

A Missense Mutation in Close Proximity of ALS-linked PFN1 Mutations Causes Only Early-onset Paget Disease of Bone.

J Clin Endocrinol Metab
Weng R, Li X, Yue H, Xu Y, Wei Z, Xu S, Li B, Zhang Z.   +7 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
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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