Results 251 to 260 of about 199,160 (290)

Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome. [PDF]

Hum Genome Var
Takaiso N, Imoto I, Matsumoto T, Yoshimura A.   +3 more
europepmc   +1 more source

Genome-scale quantification and prediction of pathogenic stop codon readthrough by small molecules. [PDF]

Nat Genet
Toledano I, Supek F, Lehner B.
europepmc   +1 more source

Genetic Structure of Hereditary Forms of Diabetes Mellitus in Russia. [PDF]

Int J Mol Sci
Minniakhmetov IR, Khusainova RI, Laptev DN, Yalaev BI, Karpova YS, Deev RV, Salakhov RR, Panteleev DD, Smirnov KV, Melnichenko GA, Shestakova MV, Mokrysheva NG.   +11 more
europepmc   +1 more source

Mitochondrial aspartate aminotransferase ( maa1 ) inactivation causes glutamate-requiring glu1 mutation in Schizosaccharomyces pombe. [PDF]

MicroPubl Biol
Kitamura K.
europepmc   +1 more source

Compound Heterozygous Loss-of-Function Variants in CCM2L in a Fetus With Tetralogy of Fallot. [PDF]

Mol Genet Genomic Med
Ling D, Xie W, Mao X, Liu Z, Tang Y, Kong F.   +5 more
europepmc   +1 more source

Exponential Clonal Expansion of 5-Fluorocytosine-Resistant Candida tropicalis and New Insights into Underlying Molecular Mechanisms. [PDF]

Emerg Infect Dis
Abou-Chakra N, Astvad KMT, Martinussen J, Munksgaard ASE, Arendrup MC.   +4 more
europepmc   +1 more source

Identification and functional validation of a novel FBN1 variant in a Marfan syndrome family using a zebrafish model. [PDF]

BMC Genomics
Huang S, Chen J, Wang Q, Zhang R, Zhuang J, Huang R, Yu C, Fang M, Zhao H, Lei L.   +9 more
europepmc   +1 more source

Dias-Logan syndrome with a de novo p.Leu360Profs*212 heterozygous pathogenic variant of BCL11A in a Chinese patient: A case report. [PDF]

SAGE Open Med Case Rep
Shu Y, Chen X, Wei Z, Chen C.
europepmc   +1 more source

Splicing to keep splicing: A feedback system for cellular homeostasis and state transition. [PDF]

Clin Transl Med
Guo Z, Zhang X, Li Y, Chen Y, Xu Y.
europepmc   +1 more source