Results 131 to 140 of about 4,368 (158)

Failure to Fuse Shut Eyelids, a Novel Unique Sign in Affected Fetus with Homozygous PPP1R13L Pathogenic Variant-A Case Report and Review of the Literature. [PDF]

Int J Mol Sci
Shalata Z, Mintz H, Haddad S, Osman K, Mahroum M, Hadid Y, Shalata A.   +6 more
europepmc   +1 more source

SORT LNPs encapsulating Cas9 mRNA achieve efficient editing in skeletal muscle in a dystrophic mouse model. [PDF]

Mol Ther
Iyer S, Daman K, Sun Y, Tutto A, Holbrook SE, Joynt AT, Yan J, Ambegaokar P, Guo D, Liu P, Stauffer JE, Maitland SA, Lee SM, Xiao Y, Huang HC, Zhu LJ, Gallagher TL, Cox GA, Keeler AM, Siegwart DJ, Emerson CP, Wolfe SA.   +21 more
europepmc   +1 more source

Increased Prevalence of Rare Copy Number Variants in Australian Children With Fetal Alcohol Spectrum Disorder: Experience in a State-Wide Diagnostic Service. [PDF]

Alcohol Clin Exp Res (Hoboken)
Byrnes S, Collins F, Elliott E.
europepmc   +1 more source

Genetic counselors' perspectives on the expanded use of non-invasive prenatal testing. [PDF]

J Community Genet
Levkova M, Yaneva A.
europepmc   +1 more source

Can cell-free fetal DNA screening be utilized for the assessment of chromosomal abnormalities in fetuses with mildly increased nuchal translucency? [PDF]

Arch Gynecol Obstet
Su L, Zhao W, Huang H, Li Y, Xie X, Cai M, Zheng L, Xu L, Wu X.   +8 more
europepmc   +1 more source

The Application Value of Chromosome Microarray Analysis in Prenatal Diagnosis of Clinically Relevant Copy Number Variations in Fetuses. [PDF]

Int J Womens Health
Liu H, Wang W, Zhu Z, Zhang B, Wang L.
europepmc   +1 more source

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns. [PDF]

J Clin Lab Anal
Choi N, Kim HY, Ko JM.
europepmc   +1 more source

Clinical application of an Asian Screening Array-based preimplantation genetic testing workflow for various genetic disorders. [PDF]

Orphanet J Rare Dis
Peng C, Ren J, Zhou F, Chen H, Yang H, Li Y, Keqie Y, Zhao X, Liu Z, Hu T, Zhang X, Ding T, Yang J, Luo S, Fan W, Chen X, Liu S.   +16 more
europepmc   +1 more source

A rare <i>de novo</i> contiguous 15q11.1-q13.3 duplication with tetrasomy (CN=4) and adjacent trisomy (CN=3) associated with severe global developmental delay, autism spectrum disorder, and subclinical epileptiform discharges: a case report and literature review. [PDF]

Front Genet
Zhou X, Xie H, Yu H, Zhang Z, Qi Y, Jiang K, Lin S.   +6 more
europepmc   +1 more source