Results 141 to 150 of about 22,195,386 (187)

NIPT-based prenatal screening of maternal Xq28 copy number variations in a cohort of 80,371 pregnancies. [PDF]

Arch Gynecol Obstet
Meng L, Xu Y, Liang Y, Zhou R, Zhao J, Huo H, Zhang Q, Gao J, Liu T, Dai M, Du P, Wang Y, Hu P, Xu Z.   +13 more
europepmc   +1 more source

Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 5p13.3p13.2 microduplication in a Chinese family. [PDF]

Mol Cytogenet
Wang W, Zhan L, Xu L, Leng P.
europepmc   +1 more source

Rapid prenatal CNV detection using nanopore technology. [PDF]

BMC Res Notes
Bhuwapathanapun M, Chaemsaithong P, Warintaksa P, Rerkamnuaychoke B, Parinayok R, Chareonsirisuthigul T, Hadradchai S, Prakobpanich M, Thammachote W, Jinawath N, Arigul T, Nimsamer P, Arayamethakorn S, Kaewkarn S, Jenjaroenpun P, Wongsurawat T.   +15 more
europepmc   +1 more source

Severe Early-Onset Fetal Growth Restriction: The Yield of Antenatal and Postnatal Genetic Testing. [PDF]

Prenat Diagn
Mossayebi MH, Adams SJ, Bunnell ME, Guseh SH, Wilkins-Haug LE.   +4 more
europepmc   +1 more source

Genetic etiology and phenotypic characteristics of fetuses with 11q deletion syndrome (11q23.3-q25). [PDF]

Exp Ther Med
Zhang T, Cong X, Li Z, Cao X, Hu L, Luo X, Liu Y, Liu W, Wei F.   +8 more
europepmc   +1 more source

Conundrum resolved by optical genome mapping in a 46,XY girl with difference in sex development and skeletal anomalies. [PDF]

JCEM Case Rep
Daghsni M, Guo F, Forsyth R, Reyes-Múgica M, Yatsenko SA, Witchel SF.   +5 more
europepmc   +1 more source

Diagnostic yield versus clinical utility in prenatal genomic testing for fetal CNS anomalies. [PDF]

Arch Gynecol Obstet
Küçük Z.
europepmc   +1 more source

Genetic and Epigenetic Mechanisms Underlying Phenotypic Discordance in Monochorionic Monozygotic Twins: A Systematic Review. [PDF]

Genes (Basel)
Colacurci D, Maruotti GM, Saccone G, D'Agostino AM, De Santis MV, Riccardi M, Martirani M, Guida M, Sarno L.   +8 more
europepmc   +1 more source

<i>GRIA3</i> Duplication at Xq25 in a Young Adult Male With Profound Intellectual Disability and Morbid Obesity: A Case Report. [PDF]

Case Rep Genet
Yatsuga S.
europepmc   +1 more source