Results 81 to 90 of about 224,806 (164)

Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies. [PDF]

Front Med (Lausanne)
Ye Y, Wang X, He Y, Ning H, Zhang Z, Tao F, Zou Z, Fang Q, Chen Z, Tian X, Hao X.   +10 more
europepmc   +1 more source

Prenatal Microarray Analysis of Pregnancies Without Ultrasound Anomalies: Establishment of Copy Number and Homozygosity Frequencies in Low-Risk Population. [PDF]

Genes (Basel)
Schwartz S, Best RG.
europepmc   +1 more source

A Complex Chromosome Rearrangement Disrupting <i>SYT1</i> Supports Haploinsufficiency as a Cause of Baker-Gordon Syndrome. [PDF]

Case Rep Genet
Bertola DR, Farias SO, da Costa SS, Pinheiro MMLS, Passos-Bueno MRDS, Rosenberg C, Krepischi ACV.   +6 more
europepmc   +1 more source

A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report. [PDF]

Front Med (Lausanne)
Deng G, Liu W, Lai Y, Pan J, Chen Y, Song J, Zhang D, Liang X, Ning S, Lu Y, Liang Y, Li D.   +11 more
europepmc   +1 more source

Hemophilia's Overlooked Female Face. [PDF]

J Clin Med
Adramerina A, Economou M.
europepmc   +1 more source

Discordant fetal anomalies in monochorionic multiple pregnancies. [PDF]

Med Genet
Schuligoi H, Juch H, Klaritsch P.
europepmc   +1 more source

Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation. [PDF]

Front Genet
León A, Aguirre AS, Lindstrand A, Ek M, Romero VI.   +4 more
europepmc   +1 more source