Results 121 to 130 of about 2,677 (178)

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients [PDF]

, 2015

core   +1 more source

Solute carrier family 6 creatine transporter member 8 (SLC6A8; CRT) [PDF]

Science-Business eXchange, 2013
openaire   +1 more source

Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD [PDF]

Genomics, 1995
P, Gregor, S R, Nash, M G, Caron, M F, Seldin, S T, Warren   +4 more
openaire   +2 more sources

Optimizing Gene Therapies for Creatine Transporter Deficiency: Correcting by Connecting. [PDF]

Epilepsy Curr
Lillis KP.
europepmc   +1 more source

Genetik der nichtsyndromalen geistigen Behinderung [PDF]

core   +1 more source

A CNS-Directed, AAV9 Gene Therapy Restores Expression and Biochemical Function of Guanidinoacetate Methyltransferase in Models of GAMT Deficiency. [PDF]

Int J Mol Sci
Binsfeld R, Webster T, Tkachyova I, Tropak M, Mitchell M, Peretti T, Schulze A, Walia JS.   +7 more
europepmc   +1 more source

Biopharmaceutics [PDF]

, 2008
立川 正憲, 細谷 健一, 赤沼 伸乙   +2 more
core   +1 more source

Identification of core genes in systemic juvenile idiopathic arthritis based on 113 machine learning algorithms. [PDF]

Medicine (Baltimore)
Chen Q, Zeng J, Tang H, Sun Y, Wu H, Huang X, Man YN, Li B, He ML, He ML.   +9 more
europepmc   +1 more source

Integrative Multi-Omics Analysis Unveils Candidate Genes and Functional Variants for Growth and Reproductive Traits in Duroc Pigs. [PDF]

Animals (Basel)
Yan Z, Li X, Yang W, Zhou P, Zhang W, Li X, Fu L, Li J, Du X.   +8 more
europepmc   +1 more source

Structural insights into the substrate uptake and inhibition of the human creatine transporter (hCRT). [PDF]

Proc Natl Acad Sci U S A
Yuan X, Yin J, Liu C, Chen X, Chen M, Wang Y, Yang Z, Wang Y, Jiang L, Zhou N, Wang X, Liu B, Ma Z, Wang K, Li H, Zhang S, Shang Y, Yang M.   +17 more
europepmc   +1 more source