Results 341 to 350 of about 1,544,422 (378)

A Novel Missense Mutation of c.965C>T (p.Ala322Val) in the Human <i>GALNS</i> Gene Results in Severe Mucopolysaccharidosis Type IVA. [PDF]

Iran J Pathol
Safavi M, Setoodeh A, Ghoddoosi M.
europepmc   +1 more source

Case report: Novel p.Val306Met missense mutation in TRPV3 in a case of Olmsted syndrome accompanied by squamous cell carcinoma. [PDF]

Front Oncol
Hao Y, Wu R, Chen X, Shen Y, Chou M, Yang J.   +5 more
europepmc   +1 more source

Deciphering the pathogenic role of rare RAF1 heterozygous missense mutation in the late-presenting DDH. [PDF]

Front Genet
Liu Y, Fan X, Qian K, Wu C, Zhang L, Yuan L, Man Z, Wu S, Li P, Wang X, Li W, Zhang Y, Sun S, Yu C.   +13 more
europepmc   +1 more source

A MISSENSE MUTATION OF MSX1 GENE IN PAKISTANI FAMILIES WITH HYPODONTIA

, 2019
Muhammad Nawaz, Nasrullah Mengal, Shai Mureed, Agha Muhammad Raza, Muhammad Saeed, Jamil Ahmed   +5 more
openalex   +1 more source

46 XX Ovotesticular Disorder of Sex Development with Gonadotropin-Releasing Hormone Receptor, Autosomal Recessive Heterozygous Missense Mutation and Autosomal Dominant Heterozygous Missense Mutation of the <i>PROKR2</i> Gene: A Case Report. [PDF]

Glob Med Genet
Peranzoni F, De Castro R, Merlini E, Nguyen YL.   +3 more
europepmc   +1 more source

A Critical Functional Missense Mutation (T117M) in Sheep MC4R Gene Significantly Leads to Gain-of-Function. [PDF]

Animals (Basel)
Zhao Z, Yang Y, Liu P, Yan T, Li R, Pan C, Li Y, Lan X.   +7 more
europepmc   +1 more source

Permanent neonatal diabetes mellitus and neurological abnormalities due to a novel homozygous missense mutation in NEUROD1

H Demirbilek (21841148), N Hatipoglu (21880250), U Gul (21880253), Z Uzan Tatli (21880256), S Ellard (13734760), SE Flanagan (21320006), E De Franco (21826052), S Kurtoglu (21880259)   +7 more
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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
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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