Results 191 to 200 of about 9,755 (237)

MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening. [PDF]

J Transl Med
Zhao Z, Zhao G, Li S, Yuan C, Feng J, Tang W, Fu X, Li H, Zhu J, Zhao X, Wu D, Kong X.   +11 more
europepmc   +1 more source

Rare diseases in the Turkish-Cypriot community: a nationwide study. [PDF]

J Community Genet
Koyutourk B, Ergoren MC.
europepmc   +1 more source

Ensuring transparency and clinical utility in SMA noninvasive prenatal diagnosis. [PDF]

Ann Med
Wang J, Liu C.
europepmc   +1 more source

Extracellular vesicles as biomarkers of disease progression and therapeutic response in patients with spinal muscular atrophy. [PDF]

Mol Ther Adv
Poulin KL, René CA, Smith IC, Vacratsis PO, Burger D, McMillan HJ, Kothary R, Perkins TJ, Warman-Chardon J, Parks RJ.   +9 more
europepmc   +1 more source

Metadata assessment of non-human primate studies of AAV9 uncovers potential tissue specific variation in expression efficiency. [PDF]

Gene Ther
Shahrukh M, Sweeney JR, Del Rio T, Ozsolak F.   +3 more
europepmc   +1 more source

Clinical Experience of Timing Treatment in Newborns with Spinal Muscular Atrophy: A Call for Standardized Screening Practices in Italy. [PDF]

Int J Neonatal Screen
Bitetti I, Iannaccone R, Margiotta G, Varone A.   +3 more
europepmc   +1 more source

Targeted Carrier Screening for Thalassemia, Hereditary Deafness, and Spinal Muscular Atrophy: A Feasible Approach for Preventing Birth Defects in China's Community Healthcare System. [PDF]

Mol Genet Genomic Med
Wang Z, Bai W, Cai X, Huang S, Zeng J, Liang X, Hong X.   +6 more
europepmc   +1 more source

Loss of SMN Impairs Osteoblast-Osteoclast Coupling via IGF1-Akt-OPG Axis in Spinal Muscular Atrophy. [PDF]

FASEB J
Xiang T, Zhou Z, Li Y, Suo Y, Dai J, Shi X, Zhou X, Sheng L.   +7 more
europepmc   +1 more source